Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision Mattia Moratti, Beatrice Rivalta, Antonello Cardoni, Veronica Santilli, Enrico Attardi, Emma Concetta Manno, Riccardo Ciudino, Silvia Di Cesare, Cristina Cifaldi, Chiara Mengoli, Edoardo Muratore, Samuele Naviglio, Paola Selva, Simona Ferrari, Gigliola Di Matteo, Alessandro Broccoli, Nicola Cotugno, Donato Amodio, Riccardo Masetti, Elena Facchini, Pier Luigi Zinzani, Marcello Lanari, Cinzia Milito, Alberto Tommasini, Rita De Vito, Andrea Finocchi, Rita Alaggio, Elena Sabattini, Caterina Cancrini, Francesca Conti Journal of Human Immunity, 2026 Inborn errors of immunity (IEI) are genetic disorders that not only heighten infection risk but also disrupt immune regulation, frequently leading to lymphoid tissue overgrowth known as lymphoid proliferations (LPD). We retrospectively reviewed 38 patients with genetically or clinically confirmed IEI and persistent LPD, comparing those with nonneoplastic/reactive hyperplasia to those who developed overt lymphoid neoplasm (lymphoma). Overall, 26% developed lymphoma—predominantly classical Hodgkin lymphoma or diffuse large B cell lymphoma—often after earlier IEI onset. Immunophenotyping and principal component analysis revealed that patients with common variable immunodeficiency developing Hodgkin lymphoma shared a distinctive T cell profile, differing from immunocompetent lymphoma cases. Centralized histologic re-evaluation reclassified several presumed lymphoma as nonneoplastic/reactive hyperplasia and identified Castleman-like and germinal center transformation patterns in nonneoplastic/reactive LPD. Notably, elevated blood IgM and circulating T follicular helper cells mirrored IgM deposits and PD-1+ T cells in lymph nodes. These findings highlight the importance of an integrated approach involving clinical, genetic, and pathological reviews to improve IEI diagnosis and avoid overtreatment.
Hematopoietic stem cell transplantation disrupts age-related gut microbiota signatures in pediatric and adult recipients Davide Leardini, Marcello Roberto, Sara Roggiani, Edoardo Muratore, Marco Fabbrini, Gianluca Storci, Enrica Tomassini, Elisa Dan, Angela Schipani, Serena De Matteis, Barbara Sinigaglia, Daria Messelodi, Nicola Salvatore Bertuccio, Arcangelo Prete, Patrizia Brigidi, Francesca Bonifazi, Riccardo Masetti Bone Marrow Transplantation, 2025 Allogeneic hematopoietic stem cell transplantation (allo-HSCT) profoundly reshapes the gut microbiome (GM), yet age-related differences in this process remain incompletely understood. In this study, we analyzed stool samples from a cohort of pediatric and adult patients collected before allo-HSCT and at neutrophil engraftment to assess GM dynamics. We observed a significant reduction in alpha diversity post-HSCT across both age groups, with young patients displaying notably lower biodiversity. While GM composition varies among age ranges before transplantation, these distinctions largely disappeared at neutrophil engraftment, indicating a convergence toward a more uniform "transplant-specific" signature. This shift entailed a loss of health-associated, butyrate-producing taxa and a rise in potentially opportunistic bacteria (e.g., Enterococcaceae, Staphylococcaceae). Low pre-allo-HSCT GM diversity correlated with an increased risk of clinically significant acute graft-versus-host disease, overwhelming the age differences, underscoring the clinical relevance of maintaining a balanced microbiome before transplantation. Overall, our findings highlight the importance of age in shaping the pre-transplant GM and reveal how allo-HSCT-driven factors homogenize microbial communities among age ranges, offering insights for future microbiome-targeted interventions to improve transplant outcomes.
Risk Stratification for Cardiotoxicity in Childhood Cancer Survivors: State-of-the-Art Review and a Novel Two-Step Approach Fiorentina Guida, Marianna Fabi, Anna Balducci, Daniele Zama, Riccardo Masetti, Federico Mercolini, Tamara Belotti, Maria Elena Cantarini, Elena Facchini, Elena Lara Legnani, Fraia Melchionda, Ylenia Bartolacelli, Cristina Ciuca, Valentina Gesuete, Arcangelo Prete, Andrea Donti, Marcello Lanari Cancers, 2025 Numerous studies and international recommendations have investigated risk factors that put childhood cancer survivors (CCSs) at a higher risk of late-onset cancer therapy-related cardiovascular toxicities (CTR-CVTs). While anthracyclines and chest-directed radiotherapy are well-established high-risk treatments, other anticancer therapies, including alkylating agents, antimetabolites, targeted therapies, and hematopoietic stem cell transplantation, also carry potential cardiotoxic effects. The likelihood of developing CTR-CVT is further modulated by the presence of cardiometabolic risk factors, prior occurrence of CTR-CVT during treatment, and certain clinical conditions, which may predispose survivors to long-term cardiovascular complications. This state-of-the-art review summarizes current strategies for stratifying the risk for developing CTR-CVT in CCSs. We then propose a tailored, multimodal approach for guiding cardio-oncological assessments both during treatment and in long-term follow-up, including a structured echocardiographic protocol. Future perspectives include validation of this approach to optimize early detection and personalized management of CTR-CVT.
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency Lili Kotmayer, Emilia J. Kozyra, Guolian Kang, Brigitte Strahm, Ayami Yoshimi, Sushree S. Sahoo, Victor B. Pastor, Enrico Attardi, Rebecca Voss, Luca Vinci, Max Kaiser, Michael N. Dworzak, Barbara De Moerloose, Martina Sukova, Jan Starý, Henrik Hasle, Kirsi Jahnukainen, Sophia Polychronopoulou, Krisztián Kállay, Owen P. Smith, Andrea Malone, Shlomit Barzilai Birenboim, Riccardo Masetti, Jochen Buechner, Marek Ussowicz, Paula Kjöllerström, Ivana Bodova, Marko Kavcic, Albert Català, Dominik Turkiewicz, Markus Schmugge, Valerie de Haas, Victoria I. Okhomina, Cristian Sotomayor, Paula Catalán, Claudia Wehr, Ulrich Salzer, Ulrich Germing, Norbert Gattermann, Csaba Bödör, Nathan Gray, Sara Lewis, Akiko Shimamura, Alessandra Giorgetti, Miriam Erlacher, Charlotte M. Niemeyer, Marcin W. Wlodarski Blood Cancer Journal, 2025 GATA2 deficiency is an autosomal dominant transcriptopathy disorder with high risk for myelodysplastic syndrome (MDS). To elucidate genotype-phenotype associations and identify new genetic risk factors for MDS, we analyzed 218 individuals with germline heterozygous GATA2 variants. We observed striking age-dependent incidence patterns in GATA2-related MDS (GATA2-MDS), with MDS being absent in infants, rare before age 6 years, and steeply increasing in older children. Among 108 distinct GATA2 variants (67 novel), null mutations conferred a 1.7-fold increased risk for MDS, had earlier MDS onset compared to other variants (12.2 vs. 14.6 years, p = 0.009) and were associated with lymphedema and deafness. In contrast, intron 4 variants exhibited reduced penetrance and lower risk for MDS development. Analysis of the somatic landscape revealed unique patterns of clonal hematopoiesis. SETBP1 mutations occurred exclusively in patients with monosomy 7 and their frequency decreased with age. Conversely, the frequency of STAG2 mutations and trisomy 8 increased with age and appeared protective against early development of advanced MDS. Overall, the majority (73.9%) of mutation-positive cases harbored monosomy 7, suggesting it serves as a major driver in malignant progression. Our findings provide evidence for age-appropriate surveillance, and a foundation for genotype-driven risk stratification in GATA2 deficiency.
Unmet Needs in Pediatric Oncological Patients Eligible for Palliative Care Sara Cerasi, Davide Leardini, Claudio Chiossi, Giovanna Locatelli, Deborah Masini, Maria Prisco, Cinzia Scalera, Monica Beccaro, Riccardo Masetti, Tamara Belotti Pediatric Blood and Cancer, 2025 The authors declare no conflicts of interest. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
Sensitivity of Pediatric Myelodysplastic Syndromes With Excess of Blasts With UBTF–TD to Venetoclax/Azacitidine Pietro Merli, Riccardo Masetti, Martina Pigazzi, Katia Girardi, Evelina Miele, Silvia Bresolin, Francesco Baccelli, Jack H. Peplinski, Marco Becilli, Valeria Paganelli, Luisa Strocchio, Barbara Buldini, Daria Pagliara, Soheil Meshinchi, Franco Locatelli American Journal of Hematology, 2025 UBTF-TD has been reported in a significant percentage of childhood MDS-EB and has been associated with inferior survival compared to that of patients with the wild-type gene. We treated three consecutive pediatric patients affected by UBTF-TD MDS-EB with venetoclax and azacitidine (ven/aza) in combination as 28-day cycles on a compassionate use basis three consecutive pediatric patients affected by UBTF-TD MDS-EB as a bridge to allogeneic HSCT. Treatment with ven/aza was well-tolerated, and all patients responded to the ven/aza course, achieving CR with flow-cytometry negativity. All three patients were bridged to myeloablative HSCT. All patients are disease-free and graft-versus-host disease-free at last follow-up. Comprehensive biological characterization of the disease showed (i) high expression of the BCL2 gene, paralleled by a low expression of BCL2A1 and MCL1; (ii) overexpression of both HOXA and HOXB; and (iii) a distinct methylation signature of patients with UBTF-TD myeloid neoplasms. Myelodysplastic syndromes (MDS) in children are a rare disease [1], differing from those occurring in adults in terms of incidence, genetics, disease characteristics, clinical course, and treatment approach. Regarding genetics, while many pediatric cases arise in the context of inherited bone marrow failure syndromes/familial MDS, data on somatic genetic alterations in the pediatric population are still limited. Recently, tandem duplications (TD) in exon 13 of the upstream binding transcription factor gene (UBTF) have been reported in 4% of a cohort of pediatric acute myelogenous leukemia (AML) [2], and thereafter in childhood MDS with excess of blasts (EB), where prevalence was 34% [3]. Notably, patients with UBTF-TD MDS-EB showed inferior survival compared to those with the wild-type (wt) gene [3]. This parallels UBTF-TD AML, in which response to chemotherapy is poor, resulting in a probability of overall survival (OS) of only 44% [2]. Indeed, of 25 UBTF-TD patients recently reported (19 AML and 6 MDS) and treated with chemotherapy ± allogeneic HSCT, only 11 were alive at last follow-up (2/6 with MDS), the main cause of death being relapse/progressive disease [4]. Treatment of pediatric MDS-EB is represented by HSCT, but the role of pre-transplant therapy is still a matter of debate [1]. For this reason, the European Working Group on Childhood MDS (EWOG-MDS) guidelines suggest the use of pre-transplant treatment in patients with high blast count, with schemes adapted to the individual case, with the aim of reducing blast count before HSCT. Considering the overlapping transcriptomic profile of UBTF-TD-AML with NPM1- and KMT2A-AML and the favorable response of these myeloid neoplasms to BCL-2 inhibition [5], we administered venetoclax in combination with azacytidine (ven/aza) in three children with UBTF-TD MDS-EB. Between 12/2023 and 08/2024, three consecutive children with confirmed UBTF-TD MDS-EB followed at IRCCS Bambino Gesù Children's Hospital, Rome, Italy, were treated with ven/aza. For every 28-day cycle, venetoclax was administered orally at the dose of 360 mg/m2 for 28 days, while azacitidine was given intravenously at 75 mg/m2 for 7 days (Day 1–7). Both drugs were given on an off-label basis, under the responsibility of the treating physicians. Ven/aza cycles were administered until a suitable donor was available for the transplant. Details on donors and conditioning are reported in the Supporting Information material. Adverse events were graded according to CTCAE version 5.0. Bone marrow (BM) aspirates were centralized at the laboratory of the Padova University. All DNA samples were screened for UBTF-TD by polymerase chain reaction (PCR) with specific primers previously validated (details in the Supporting Information). Allelic ratio (AR) was defined as the ratio between the area of the mutated peak and the area of the wild-type one (limit of detection 0.006). Transcriptomics and methylation analyses were performed using Illumina technologies (Illumina, CA, USA). Additionally, methylation data of UBTF-TD patients were compared to those of 843 pediatric AML samples from the Target Pediatric AML (TpAML) initiative (https://targetpediatricaml.org) to identify differentially methylated regions (DMRs) (details in the Supporting Information). Patients' characteristics (including additional genetic lesions) are reported in Table 1, while the morphology of marrow trephine [6] (before and after treatment) and the immunophenotype are reported in the Supporting Information material (Figures S1, S2, and Table S1). Two patients were treatment-naïve, while one had relapsed 1 year after a first HSCT; notably, before that HSCT, he had received two courses of intensive AML-like therapy. In this patient, UBTF-TD was not investigated at diagnosis but was identified at relapse; additionally, analysis on frozen samples identified UBTF-TD also at diagnosis. HLADR+; CD11a+; CD13+; CD33+; CD45+; CD117+ UBTF-TD CEBPA NTD mut (VAF 4%), WT1 mut (VAF 3.4%) Treatment with ven/aza was well tolerated; one patient experienced a grade 2 increase in transaminases and another an episode of grade 3 febrile neutropenia; both were considered related to treatment, but no treatment interruption was needed. Blood count kinetics of the three patients after ven/aza courses are detailed in Figure S3. All patients responded to the ven/aza course, achieving CR with flow-cytometry negativity (Figure 1). Notably, all patients achieved the best response after two cycles; one patient received a third cycle while waiting for an unrelated donor. Longitudinal molecular testing by fragment analysis showed a reduction in AR to undetectable values (Figure 1). Through scalar dilutions, we demonstrated a sensitivity up to 10−3 with this technique (Supporting Information). The concomitant disappearance of CEBPA NTD VAF and WT1 VAF in patient #1 and the reduction of KRAS VAF in patient #3 after the first ven/aza cycle were demonstrated. All three patients were bridged to HSCT, one after three cycles and the other two after two courses; conditioning was myeloablative for all of them. No major complication after transplant was recorded (except for mucositis) and all patients are disease-free and graft-versus-host disease-free at last follow-up (median value 15.9 months, range 12.4–17.9). We compared RNAseq data of the three patients with samples from: (i) non-UBTF-TD MDS-EB (n = 3), (ii) UBTF-TD AML (n = 4), (iii) AML with normal karyotype (AML-NK; n = 6), (iv) AML with KMT2A-rearrangements (AML-KMT2Ar, n = 7), and (v) AML with NUP98-rearrangements (AML-NUP98r, n = 5). We found high expression of the BCL2 gene in UBTF-TD MDS and AML, paralleled by a low expression of BCL2A1 and MCL1 (Figure S4A). Notably, while the expression of these genes was similar for MDS and AML with UBTF-TD, it differed in cases of MDS not harboring UBTF-TD. Additionally, we found overexpression of both HOXA and HOXB for both UBTF-TD MDS-EB and AML cases, while it was not detected in non-UBTF-TD MDS (Figure S4B). On PB, we observed that the mean DNA methylation level of all probes was lower in the post-therapy (0.52) than in the pre-therapy group (0.59) (p < 0.001) (details in the Supporting Information and Figure S5). Given that response to venetoclax might be modulated/enhanced by the hypomethylating agent, we studied the methylation profile of UBTF-TD and contrasted the methylation profile to patients without the variant in TpAML. Supervised clustering of the methylation data from patients with and without UBTF-TD (N = 41 vs. N = 776), revealed a distinct signature that included all patients with UBTF-TD (with substantial overlap with FLT3-ITD and WT1 mutations), demonstrating that AML with UBTF-TD have a distinct methylation profile that may contribute to response to azacytidine (Figure 2A). Surprisingly, although there is no overlap of UBTF-TD with NUP98::NSD1 fusions, all patients with NUP98::NSD1 segregated in the same methylation block. Additionally, comparison of the mutational profile of those with UBTF-TD to that in NUP98::NSD1 revealed striking similarity in genomic composition of the two variants (Figure 2B). Experimental data support the use of menin inhibitors in UBTF-TD AML [7], and a recent report showed response to revumenib, although transient, in a young adult AML UBTF-TD patient [8]. UBTF-TD and KMT2A/menin complex colocalize and interact with genomic targets to maintain leukemic stemness and proliferation. Although no study has specifically tested menin inhibitors in MDS, the frequent dysplastic features in UBTF-TD AML and the presence of UBTF-TD in a relevant percentage of pediatric MDS suggest a possible MDS-AML continuum driven by UBTF-TD [2, 9]. In our study, transcriptomic analysis indicates that MDS-EB and AML with UBTF-TD share a profile distinct from UBTF-wt MDS-EB, suggesting that UBTF-TD myeloid neoplasms could represent a unique entity. The potential of combining BCL-2 inhibition with hypomethylating agents and/or menin inhibitors is being studied in an ongoing clinical trial on NPM1/KMT2Ar/NUP98r-AML (NCT06177067). Although the treatment was chosen empirically in light of the: (i) favorable response rates of these myeloid neoplasms to BCL-2 inhibition [10], (ii) known resistance to and/or unclear clinical benefit from chemotherapy of these kinds of diseases, (iii) previous safety data [5, 11], (iv) biological rationale for BCL-2 inhibition in HOX-dysregulated UBTF-TD myeloid diseases [9, 12], and (v) synergistic effect of venetoclax with azacytidine [13], we were able to demonstrate biological correlation with the observed response. Indeed, the transcriptomic profile of the three cases was consistent with sensitivity to BCL-2 inhibition. Notably, although additional RAS mutations have been reported as conferring resistance to venetoclax [14], through increased stability and higher levels of MCL-1 protein [15], patient #3, harboring a KRAS mutation, responded well to therapy; however, contrary to what was expected in KRAS-mutated disease, he had low expression of MCL1. Additional studies from a large cohort of AML patients with UBTF-TD demonstrated a distinct methylation profile that was shared with all patients with this genetic alteration, providing rationale that hypomethylating agents may modulate/enhance response to venetoclax. Unexpected observation of co-clustering of NUP98::NSD1 AML in the same methylation block as UBTF-TD neoplasms provided rationale in investigating likelihood of response to similar therapy in patients with NUP98::NSD1 [16]. Emerging data from AML patients with NUP98::NSD1 is also suggestive of potent response to ven/aza in another very high-risk cohort of patients [16]. Although there is no co-occurrence of UBTF-TD and NUP98::NSD1, there are significant similarities between the two genomic variants, including very high enrichment of both variants in FLT3-ITD, WT1 mutations and similar outcomes. These similarities appear to extend to methylation state and response to ven/aza. In conclusion, our data indicate that UBTF-TD MDS-EB cases are biologically similar to AML cases harboring the same genetic lesion, thus further supporting the hypothesis that MDS and AML could be part of a continuum driven by UBTF-TD, and this should be considered as a separate entity. More importantly, we demonstrated, although in a small cohort, safety and efficacy of the combination of ven/aza in this population as a bridge to HSCT, which, once the control of the disease is obtained and a suitable donor is secured, should be performed rapidly. Two ven/aza treatment courses seem sufficient before transplantation; more courses can be given while waiting for the transplant (e.g., in case of unavailable donors). Finally, the same regimen could be explored in other myeloid malignancies with similar transcriptomic profiles and resistance to conventional therapies, including NUP98::NSD1 AML. Ethical approval for this case series was obtained from the local IRB. Written informed consent was obtained from parents/legal guardians. P.M. reports personal fees from Sobi, Miltenyi, and Amgen, outside the submitted work. F.L. reports personal fees from Amgen, personal fees from Novartis, other from Bellicum Pharmaceutical, other from Neovii, personal fees from Miltenyi, Medac, Jazz Pharmaceutical, and Takeda, outside the submitted work. The other authors declare no conflicts of interest. For original data, please contact [email protected]. Data S1: Supporting Information. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
Food Safety Practices and Foodborne Illness in Italian Pediatric Oncology and Hematology Centers: A Survey on Behalf of the Infectious Disease Working Group of AIEOP Davide Leardini, Gianluca Bossù, Francesco Venturelli, Francesco Baccelli, Edoardo Muratore, Antonio Grasso, Pietro Gasperini, Chiara Pilotto, Letizia Pomponia Brescia, Nagua Giurici, Angelica Barone, Mariacristina Menconi, Elena Soncini, Daniela Onofrillo, Manuela Spadea, Francesco Fabozzi, Pietro Casartelli, Simona Rinieri, Maria Grazia Petris, Valeria Petroni, Paola Muggeo, Katia Perruccio, Cristina Meazza, Francesca Compagno, Francesco Paolo Tambaro, Maura Faraci, Angela Mastronuzzi, Riccardo Masetti, Simone Cesaro Pediatric Blood and Cancer, 2025 BackgroundFood safety practices are widely recommended for pediatric patients with cancer or undergoing hematopoietic stem cell transplantation (HCT) to mitigate foodborne infectious risks. However, specific measures, such as the neutropenic diet (ND) or low‐microbial diet, lack robust evidence and are inconsistently implemented across pediatric hematology‐oncology centers. Additionally, data on foodborne illnesses (FBI) in this population remain scarce.ProcedureWe conducted an online survey and a retrospective review of FBI cases across 22 centers within the Italian Association of Pediatric Hematology and Oncology (AIEOP) network, 13/22 performing allogeneic HCT.ResultsAll centers provide dietary recommendations to the patients. Restrictive diets are recommended in 72% of centers during hospitalization and in 77% after discharge. Universally avoided foods include unpasteurized milk, fresh fruit without skin, moldy cheeses, bakery and ice cream products, raw eggs and derivatives, raw meat, raw or smoked fish, cured meats, shellfish, and cooked food leftovers. Fresh fruits and vegetables are commonly restricted only to patients undergoing allogeneic HCT. Ninety‐five percent of centers provide patients and their families with guidelines on cleaning food at home, including thorough cleaning of fruits and vegetables with a food disinfectant. Seven centers reported FBI cases, with eight documented cases, including two fatalities caused by meningoencephalitis related to infections from Listeria monocytogenes and Bacillus cereus, respectively.ConclusionsThis study highlights the need for standardized, evidence‐based food safety guidelines and FBI management to enhance care for pediatric patients receiving chemotherapy or HCT.
Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia Masayuki Umeda, Ryan Lea Hiltenbrand, Nicole L Michmerhuizen, Juan M Barajas, Melvin E Thomas, Bright Arthur, Michael P Walsh, Guangchun Song, Jing J. Ma, Tamara Westover, Amit Kumar, Petri Pölönen, Cristina Mecucci, Danika Di Giacomo, Franco Locatelli, Riccardo Masetti, Salvatore Nicola Bertuccio, Martina Pigazzi, Shondra M Pruett-Miller, Stanley B Pounds, Jeffrey Rubnitz, Hiroto Inaba, Kyriakos P Papadopoulos, Michael J Wick, Ilaria Iacobucci, Charles G. Mullighan, Jeffery M Klco Blood, 2025 Leukemias with NUP98 rearrangements exhibit heterogeneous phenotypes such as acute myeloid leukemia (AML), T-acute lymphoblastic leukemia (T-ALL), or myelodysplastic syndrome/neoplasms (MDS) associated with fusion partners, whereas the mechanism responsible for this heterogeneity is poorly understood. Through genome-wide mutational and transcriptional analyses of 177 NUP98-rearranged leukemias, we show that cooperating alterations are associated with differentiation status even among leukemias sharing the same NUP98 fusions, such as NUP98::KDM5A acute megakaryocytic leukemia (AMKL) with RB1 loss or T-ALL with NOTCH1 mutations. CUT&RUN profiling of in vitro cord blood CD34+ cell (cbCD34) models of major NUP98 fusions revealed that NUP98 fusion oncoproteins directly regulate differentiation-related genes contributing to the disease phenotypes, represented by NUP98::KDM5A binding to MEIS2 or GFI1B for megakaryocyte differentiation. In patient samples, NUP98-fusion oncoprotein binding patterns are heterogeneous, potentially shaped by somatic mutations and differentiation status. Using cbCD34 models and CRISPR/Cas9 gene editing, we show that RB1 loss cooperates with NUP98::KDM5A by blocking terminal differentiation toward platelets and expanding megakaryocyte-like cells, whereas WT1 frameshift mutations skew differentiation toward dormant lymphoid-myeloid primed progenitor cells and cycling granulocyte-monocyte progenitor cells, providing evidence for NUP98-rearranged leukemia phenotypes affected by cooperating alterations. NUP98::KDM5A cbCD34 models with RB1 or WT1 alterations have different sensitivities to menin inhibition, suggesting that cellular differentiation provides stage-specific menin dependencies and resistance mechanisms that can be leveraged for future treatment strategies for NUP98-rearranged leukemia.
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement Davide Leardini, Elisabetta Flex, Elliot Stieglitz, Sara Cerasi, Salvatore Nicola Bertuccio, Francesco Baccelli, Krisztián Kállay, Paula Kjollerstrom, Sara Batalha, Giovanna Carpentieri, Lucia Pedace, Andrea Ciolfi, Mahmoud Hammad, Maria Miranda, Marta Rojas, Anupama Rao, Andrew J. Innes, Martina Rudelius, Valeria Santini, Marco Raddi, Kok-Hoi Teh, Rita De Vito, Ayami Yoshimi, Marco Tartaglia, Franco Locatelli, Charlotte M. Niemeyer, Riccardo Masetti European Journal of Human Genetics, 2025
Diagnostic accuracy of liver stiffness measurement for the diagnosis of veno-occlusive disease/sinusoidal obstruction syndrome after hematopoietic stem cell transplantation (HSCT), the ELASTOVOD STUDY: an investigator-initiated, prospective, multicentre diagnostic clinical trial Federico Ravaioli, Antonio Colecchia, Jacopo Peccatori, Daria Pagliara, Anna Grassi, Francesco Barbato, Riccardo Masetti, Barbara Sarina, Simona Sica, Simone Cesaro, Chiara Nozzoli, Giovanni Manfredi Assanto, Lucia Prezioso, Stella Santarone, Francesco Saglio, Ester Vanni, Attilio Olivieri, Mario Delia, Edoardo Benedetti, Francesco Zallio, Fabrizio Pane, Cristina Skert, Mariacristina Menconi, Fabio Benedetti, Francesco De Felice, Luigi Colecchia, Tamara Belotti, Luigina Vanessa Alemanni, Margherita Ursi, Giovanni Marasco, Marcello Roberto, Amanda Vestito, Elton Dajti, Matteo Garcovich, Stefania Bramanti, Daniela Taurino, Francesco Quagliarella, Fabio Ciceri, Arcangelo Prete, Andrea Pession, Davide Festi, , Mario Arpinati, Enrico Maffini, Sadia Falcione, Rocco Maurizio Zagari, Zama Daniele, Lorenzo Lazzari, Alessandro Rambaldi, Laura Riccardi, Valentina Di Ruscio, Emilia Boccieri, Margherita Falcomer, Valsania Chiara, Virginia Vitale, Chiara Garonzi, Francesco Vizzutti, Umberto Arena, Adriano De Santis, Amelia RinaldI, Andrea Olivani, Doriana Vaddinelli, Enza Di Lembo, Manuela Spadea, Vincenzo Apolito, Dellacasa Chiara, Alessandro Busca, Giorgia Mancini, Giulio Argalia, Paola Carluccio, Francesca Passerini, Alessandro Di Gangi, Paolo Rivela, Roberto Carbone, Giorgia Battipaglia, Francesca Carobolante, Irene Franceschet, Francesca Patriarca, Michele Malagola, Riccardo Varaldo, Francesco Onida, Pavone Vincenzo, Fancesca Bonifazi, Francesca Bonifazi Bone Marrow Transplantation, 2025
Healthcare migration in Italian paediatric haematology-oncology centres belonging to AIEOP Roberto Rondelli, Tamara Belotti, Riccardo Masetti, Franco Locatelli, Maura Massimino, Alessandra Biffi, Carlo Dufour, Franca Fagioli, Giuseppe Menna, Andrea Biondi, Claudio Favre, Marco Zecca, Nicola Santoro, Giovanna Russo, Silverio Perrotta, Andrea Pession, Arcangelo Prete Italian Journal of Pediatrics, 2024
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation Jonathan Bohlen, Ivan Bagarić, Taja Vatovec, Masato Ogishi, Syed F. Ahmed, Axel Cederholm, Lori Buetow, Steicy Sobrino, Corentin Le Floc’h, Carlos A. Arango-Franco, Luis Seabra, Marine Michelet, Federica Barzaghi, Davide Leardini, Francesco Saettini, Francesca Vendemini, Francesco Baccelli, Albert Catala, Eleonora Gambineri, Marinella Veltroni, Yurena Aguilar de la Red, Gillian I. Rice, Filippo Consonni, Laureline Berteloot, Laetitia Largeaud, Francesca Conti, Cécile Roullion, Cécile Masson, Boris Bessot, Yoann Seeleuthner, Tom Le Voyer, Darawan Rinchai, Jérémie Rosain, Anna-Lena Neehus, Lucia Erazo-Borrás, Hailun Li, Zarah Janda, En-Jui Cho, Edoardo Muratore, Camille Soudée, Candice Lainé, Eric Delabesse, Claire Goulvestre, Cindy S. Ma, Anne Puel, Stuart G. Tangye, Isabelle André, Christine Bole-Feysot, Laurent Abel, Miriam Erlacher, Shen-Ying Zhang, Vivien Béziat, Chantal Lagresle-Peyrou, Emmanuelle Six, Marlène Pasquet, Laia Alsina, Alessandro Aiuti, Peng Zhang, Yanick J. Crow, Nils Landegren, Riccardo Masetti, Danny T. Huang, Jean-Laurent Casanova, Jacinta Bustamante Journal of Clinical Investigation, 2024
Biologic and Clinical Analysis of Childhood Gamma Delta T-ALL Identifies LMO2/STAG2 Rearrangements as Extremely High Risk Shunsuke Kimura, Chun Shik Park, Lindsey E. Montefiori, Ilaria Iacobucci, Petri Pölönen, Qingsong Gao, Elizabeth D. Arnold, Andishe Attarbaschi, Anthony Brown, Barbara Buldini, Kenneth J. Caldwell, Yunchao Chang, Chelsey Chen, Cheng Cheng, Zhongshan Cheng, John Choi, Valentino Conter, Kristine R. Crews, Hester A. de Groot-Kruseman, Takao Deguchi, Mariko Eguchi, Hannah E. Muhle, Sarah Elitzur, Gabriele Escherich, Burgess B. Freeman, Zhaohui Gu, Katie Han, Keizo Horibe, Toshihiko Imamura, Sima Jeha, Motohiro Kato, Kean H. Chiew, Tanya Khan, Michal Kicinski, Stefan Köhrer, Steven M. Kornblau, Rishi S. Kotecha, Chi-Kong Li, Yen-Chun Liu, Franco Locatelli, Selina M. Luger, Elisabeth M. Paietta, Atsushi Manabe, Hanne V. Marquart, Riccardo Masetti, Mellissa Maybury, Pauline Mazilier, Jules P.P. Meijerink, Sharnise Mitchell, Takako Miyamura, Andrew S. Moore, Koichi Oshima, Katarzyna Pawinska-Wasikowska, Rob Pieters, Mollie S. Prater, Shondra M. Pruett-Miller, Ching-Hon Pui, Chunxu Qu, Michaela Reiterova, Noemi Reyes, Kathryn G. Roberts, Jacob M. Rowe, Atsushi Sato, Kjeld Schmiegelow, Martin Schrappe, Shuhong Shen, Szymon Skoczeń, Orietta Spinelli, Jan Stary, Michael Svaton, Masatoshi Takagi, Junko Takita, Yanjing Tang, David T. Teachey, Paul G. Thomas, Daisuke Tomizawa, Jan Trka, Elena Varotto, Tiffaney L. Vincent, Jun J. Yang, Allen E.J. Yeoh, Yinmei Zhou, Martin Zimmermann, Hiroto Inaba, Charles G. Mullighan Cancer Discovery, 2024
Current practices for nutritional evaluation and care during the treatment of pediatric oncology patients: a survey among AIEOP centers Francesco Venturelli, Davide Leardini, Francesco Baccelli, Francesca Gottardi, Veronica Barat, Francesca Vendemini, Veronica Maria Folsi, Cristina Meazza, Maddalena Marinoni, Maria Ester Bernardo, Manuela Tumino, Alessandra Brugiolo, Cristina Pizzato, Laura Battisti, Patrizia Bertolini, Alessia Pancaldi, Simona Rinieri, Roberta Pericoli, Paola Coccia, Daniela Onofrillo, Francesco Fabozzi, Simona Bianchi, Daniela Rizzo, Rosa Maria Daniele, Pio Stellato, Arcangelo Prete, Riccardo Masetti, Edoardo Muratore European Journal of Pediatrics, 2024
Phenotypic profiling of CD34+ cells by advanced flow cytometry improves diagnosis of juvenile myelomonocytic leukemia Cristina Bugarin, Laura Antolini, Chiara Buracchi, Sergio Matarraz, Tiziana Angela Coliva, Vincent H. Van der Velden, Tomasz Szczepanski, Elaine Sobral Da Costa, Alita Van der Sluijs, Michaela Novakova, Ester Mejstrikova, Stefan Nierkens, Fabiana Vieira De Mello, Paula Fernandez, Carmen Aanei, Łukasz Sędek, Luisa Strocchio, Riccardo Masetti, Laura Sainati, Jan Philippé, Maria Grazia Valsecchi, Franco Locatelli, Jacques J.M. Van Dongen, Andrea Biondi, Alberto Orfao, Giuseppe Gaipa Haematologica, 2024
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup Senthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, Ina Schanze, Ilse Wieland, Geoffroy Andrieux, Patrick Metzger, Maria Hess, Michael H. Albert, Arndt Borkhardt, Dorine Bresters, Jochen Buechner, Albert Catala, Valerie De Haas, Michael Dworzak, Miriam Erlacher, Henrik Hasle, Kirsi Jahnukainen, Franco Locatelli, Riccardo Masetti, Jan Stary, Dominik Turkiewicz, Luca Vinci, Marcin W. Wlodarski, Ayami Yoshimi, Melanie Boerries, Charlotte M. Niemeyer, Martin Zenker, Christian Flotho British Journal of Haematology, 2024
Measurable Residual Disease and Fusion Partner Independently Predict Survival and Relapse Risk in Childhood KMT2A -Rearranged Acute Myeloid Leukemia: A Study by the International Berlin-Frankfurt-Münster Study Group Romy E. van Weelderen, Kim Klein, Christine J. Harrison, Yilin Jiang, Jonas Abrahamsson, Nira Arad-Cohen, Emmanuelle Bart-Delabesse, Barbara Buldini, Barbara De Moerloose, Michael N. Dworzak, Sarah Elitzur, José M. Fernández Navarro, Robert B. Gerbing, Bianca F. Goemans, Hester A. de Groot-Kruseman, Erin Guest, Shau-Yin Ha, Henrik Hasle, Charikleia Kelaidi, Hélène Lapillonne, Guy Leverger, Franco Locatelli, Riccardo Masetti, Takako Miyamura, Ulrika Norén-Nyström, Sophia Polychronopoulou, Mareike Rasche, Jeffrey E. Rubnitz, Jan Stary, Anne Tierens, Daisuke Tomizawa, C. Michel Zwaan, Gertjan J.L. Kaspers Journal of Clinical Oncology, 2023
Second allogeneic stem cell transplantation can rescue a significant proportion of patients with JMML relapsing after first allograft Luca Vinci, Christian Flotho, Peter Noellke, Dirk Lebrecht, Riccardo Masetti, Valerie de Haas, Barbara De Moerloose, Michael Dworzak, Henrik Hasle, Tayfun Güngör, Jan Starý, Dominik Turkiewicz, Marek Ussowicz, Cristina Diaz de Heredia, Jochen Buechner, Kirsi Jahnukainen, Krisztian Kallay, Ivana Bodova, Owen P. Smith, Marco Zecca, Dorine Bresters, Peter Lang, Tania Nicole Masmas, Roland Meisel, Herbert Pichler, Miriam Erlacher, Gudrun Göhring, Franco Locatelli, Brigitte Strahm, Charlotte M. Niemeyer, Ayami Yoshimi Bone Marrow Transplantation, 2023
Long-term proliferation of immature hypoxia-dependent JMML cells supported by a 3D in vitro system Alice Cani, Caterina Tretti Parenzan, Chiara Frasson, Elena Rampazzo, Pamela Scarparo, Samuela Francescato, Federico Caicci, Vito Barbieri, Antonio Rosato, Simone Cesaro, Marco Zecca, Concetta Micalizzi, Laura Sainati, Martina Pigazzi, Alessandra Biffi, Barbara Buldini, Franco Locatelli, Luca Persano, Riccardo Masetti, Geertruij te Kronnie, Silvia Bresolin Blood Advances, 2023
Hypodiploidy has unfavorable impact on survival in pediatric acute myeloid leukemia: An I-BFM Study Group collaboration Anne Sofie Borg Hammer, Kristian Løvvik Juul-Dam, Julie Damgaard Sandahl, Jonas Abrahamsson, Malgorzata Czogala, Emmanuelle Delabesse, Iren Haltrich, Kirsi Jahnukainen, E. Anders Kolb, Gábor Kovács, Guy Leverger, Franco Locatelli, Riccardo Masetti, Ulrika Noren-Nyström, Susana C. Raimondi, Mareike Rasche, Dirk Reinhardt, Tomohiko Taki, Daisuke Tomizawa, Bernward Zeller, Henrik Hasle, Eigil Kjeldsen Blood Advances, 2023
Treatment of steroid-refractory graft versus host disease in children Francesca Gottardi, Davide Leardini, Edoardo Muratore, Francesco Baccelli, Sara Cerasi, Francesco Venturelli, Andrea Zanaroli, Tamara Belotti, Arcangelo Prete, Riccardo Masetti Frontiers in Transplantation, 2023
AML-283 The Genetic Landscape of NUP98-Rearranged Pediatric Leukemia Masayuki Umeda, Nicole Michmerhuizen, Jing Ma, Tamara Westover, Michael P Walsh, Guangchun Song, Cristina Mecucci, Danika Di Giacomo, Franco Locatelli, Riccardo Masetti, Salvatore Nicola Bertuccio, Martina Pigazzi, Ilaria Iacobucci, Charles G Mullighan, Jeffery M Klco Clinical Lymphoma Myeloma and Leukemia, 2022
Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome Francesco Saettini, Tiziana Angela Coliva, Francesca Vendemini, Marta Galbiati, Cristina Bugarin, Riccardo Masetti, Daniele Moratto, Marco Chiarini, Fabiola Guerra, Maria Iascone, Raffaele Badolato, Giovanni Cazzaniga, Charlotte Niemeyer, Christian Flotho, Andrea Biondi Frontiers in Pediatrics, 2022
Management of Nutritional Needs in Pediatric Oncology: A Consensus Statement Francesco Fabozzi, Chiara Maria Trovato, Antonella Diamanti, Angela Mastronuzzi, Marco Zecca, Serena Ilaria Tripodi, Riccardo Masetti, Davide Leardini, Edoardo Muratore, Veronica Barat, Antonella Lezo, Francesco De Lorenzo, Riccardo Caccialanza, Paolo Pedrazzoli Cancers, 2022
Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes (Nature Medicine, (2021), 27, 10, (1806-1817), 10.1038/s41591-021-01511-6) Sushree S. Sahoo, Victor B. Pastor, Charnise Goodings, Rebecca K. Voss, Emilia J. Kozyra, Amina Szvetnik, Peter Noellke, Michael Dworzak, Jan Starý, Franco Locatelli, Riccardo Masetti, Markus Schmugge, Barbara De Moerloose, Albert Catala, Krisztián Kállay, Dominik Turkiewicz, Henrik Hasle, Jochen Buechner, Kirsi Jahnukainen, Marek Ussowicz, Sophia Polychronopoulou, Owen P. Smith, Oksana Fabri, Shlomit Barzilai, Valerie de Haas, Irith Baumann, Stephan Schwarz-Furlan, Jan Starý, Barbara De Moerloose, Krisztián Kallay, Owen Smith, Valérie De Haas, Gudrun Gohring, Charlotte Niemeyer, Karin Nebral, Ingrid Simonitsch-Kluppp, Pascale De Paepe, Nadine Van Roy, Vit Campr, Zuzana Zemanova, Erik Clasen-Linde, Tine Plesner, Brigitte Schlegelberger, Martina Rudelius, Kalliopi Manola, Kalliopi Stefanaki, Judit Csomor, Hajnalka Andrikovics, David Betts, Maureen O’Sullivan, Yaniv Zohar, Marta Jeison, Rita De Vito, Francesco Pasquali, Jadwiga Maldyk, Olga Haus, Helena Alaiz, Paula Kjollerstrom, Luis Mascarenhas de Lemos, Ivana Bodova, Martin Čermák, Lukas Plank, Barbara Gazic, Marko Kavcic, Helena Podgornik, Margarita Llavador Ros, Jose Cervera, Carole Gengler, Joelle Tchinda, Berna Beverloo, Roos Leguit, Marena R. Niewisch, Martin G. Sauer, Birgit Burkhardt, Peter Lang, Peter Bader, Rita Beier, Ingo Müller, Michael H. Albert, Roland Meisel, Ansgar Schulz, Gunnar Cario, Pritam K. Panda, Julius Wehrle, Shinsuke Hirabayashi, Marta Derecka, Robert Durruthy-Durruthy, Gudrun Göhring, Ayami Yoshimi-Noellke, Manching Ku, Dirk Lebrecht, Miriam Erlacher, Christian Flotho, Brigitte Strahm, Charlotte M. Niemeyer, Marcin W. Wlodarski, and Nature Medicine, 2021
Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome Rachel Bortnick, Marcin Wlodarski, Valerie de Haas, Barbara De Moerloose, Michael Dworzak, Henrik Hasle, Riccardo Masetti, Jan Starý, Dominik Turkiewicz, Marek Ussowicz, Emilia Kozyra, Michael Albert, Peter Bader, Victoria Bordon, Gunnar Cario, Rita Beier, Johannes Schulte, Dorine Bresters, Ingo Müller, Herbert Pichler, Petr Sedlacek, Martin G. Sauer, Marco Zecca, Gudrun Göhring, Ayami Yoshimi, Peter Noellke, Miriam Erlacher, Franco Locatelli, Charlotte M. Niemeyer, Brigitte Strahm, and Bone Marrow Transplantation, 2021
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes Sushree S. Sahoo, Victor B. Pastor, Charnise Goodings, Rebecca K. Voss, Emilia J. Kozyra, Amina Szvetnik, Peter Noellke, Michael Dworzak, Jan Starý, Franco Locatelli, Riccardo Masetti, Markus Schmugge, Barbara De Moerloose, Albert Catala, Krisztián Kállay, Dominik Turkiewicz, Henrik Hasle, Jochen Buechner, Kirsi Jahnukainen, Marek Ussowicz, Sophia Polychronopoulou, Owen P. Smith, Oksana Fabri, Shlomit Barzilai, Valerie de Haas, Irith Baumann, Stephan Schwarz-Furlan, Jan Starý, Barbara De Moerloose, Krisztián Kallay, Owen Smith, Valérie De Haas, Gudrun Gohring, Charlotte Niemeyer, Karin Nebral, Ingrid Simonitsch-Kluppp, Pascale De Paepe, Nadine Van Roy, Vit Campr, Zuzana Zemanova, Erik Clasen-Linde, Tine Plesner, Brigitte Schlegelberger, Martina Rudelius, Kalliopi Manola, Kalliopi Stefanaki, Judit Csomor, Hajnalka Andrikovics, David Betts, Maureen O’Sullivan, Yaniv Zohar, Marta Jeison, Rita De Vito, Francesco Pasquali, Jadwiga Maldyk, Olga Haus, Helena Alaiz, Paula Kjollerstrom, Luis Mascarenhas de Lemos, Ivana Bodova, Martin Čermák, Lukas Plank, Barbara Gazic, Marko Kavcic, Helena Podgornik, Margarita Llavador Ros, Jose Cervera, Carole Gengler, Joelle Tchinda, Berna Beverloo, Roos Leguit, Marena R. Niewisch, Martin G. Sauer, Birgit Burkhardt, Peter Lang, Peter Bader, Rita Beier, Ingo Müller, Michael H. Albert, Roland Meisel, Ansgar Schulz, Gunnar Cario, Pritam K. Panda, Julius Wehrle, Shinsuke Hirabayashi, Marta Derecka, Robert Durruthy-Durruthy, Gudrun Göhring, Ayami Yoshimi-Noellke, Manching Ku, Dirk Lebrecht, Miriam Erlacher, Christian Flotho, Brigitte Strahm, Charlotte M. Niemeyer, Marcin W. Wlodarski, and Nature Medicine, 2021
Autoimmunity and cancer Riccardo Masetti, Alessandra Tiri, Anna Tignanelli, Elena Turrini, Alberto Argentiero, Andrea Pession, Susanna Esposito Autoimmunity Reviews, 2021
CD56, HLA-DR, and CD45 recognize a subtype of childhood AML harboring CBFA2T3-GLIS2 fusion transcript Andrea Zangrando, Francesca Cavagnero, Pamela Scarparo, Elena Varotto, Samuela Francescato, Claudia Tregnago, Rosanna Cuccurullo, Franca Fagioli, Luca Lo Nigro, Riccardo Masetti, Maria Caterina Putti, Carmelo Rizzari, Nicola Santoro, Andrea Pession, Martina Pigazzi, Franco Locatelli, Giuseppe Basso, Barbara Buldini Cytometry Part A, 2021
Necrotizing enterocolitis: Overview on in vitro models Luigia De Fazio, Isadora Beghetti, Salvatore Nicola Bertuccio, Concetta Marsico, Silvia Martini, Riccardo Masetti, Andrea Pession, Luigi Corvaglia, Arianna Aceti International Journal of Molecular Sciences, 2021
Inborn errors of immunity and cancer Alessandra Tiri, Riccardo Masetti, Francesca Conti, Anna Tignanelli, Elena Turrini, Patrizia Bertolini, Susanna Esposito, Andrea Pession Biology, 2021
Posterior Reversible Encephalopathy Syndrome in infants and young children Duccio Maria Cordelli, Chiara Marra, Lara Ciampoli, Davide Barbon, Francesco Toni, Daniele Zama, Lucio Giordano, Giuseppe Milito, Stefano Sartori, Laura Sainati, Thomas Foiadelli, Tommaso Mina, Lucia Fusco, Marta Santarone, Chiara Iurato, Alessandro Orsini, Giovanni Farello, Alberto Verrotti, Arianna Aceti, Riccardo Masetti European Journal of Paediatric Neurology, 2021
Nasal obstruction and snoring: three unusual cases as a lesson for the paediatrician Medico E Bambino, 2020
The altered transcriptome of pediatric myelodysplastic syndrome revealed by RNA sequencing Lorena Zubovic, Silvano Piazza, Toma Tebaldi, Luca Cozzuto, Giuliana Palazzo, Viktoryia Sidarovich, Veronica De Sanctis, Roberto Bertorelli, Tim Lammens, Mattias Hofmans, Barbara De Moerloose, Julia Ponomarenko, Martina Pigazzi, Riccardo Masetti, Cristina Mecucci, Giuseppe Basso, Paolo Macchi Journal of Hematology and Oncology, 2020
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency Emilia J. Kozyra, Victor B. Pastor, Stylianos Lefkopoulos, Sushree S. Sahoo, Hauke Busch, Rebecca K. Voss, Miriam Erlacher, Dirk Lebrecht, Enikoe A. Szvetnik, Shinsuke Hirabayashi, Ramunė Pasaulienė, Lucia Pedace, Marco Tartaglia, Christian Klemann, Patrick Metzger, Melanie Boerries, Albert Catala, Henrik Hasle, Valerie de Haas, Krisztián Kállay, Riccardo Masetti, Barbara De Moerloose, Michael Dworzak, Markus Schmugge, Owen Smith, Jan Starý, Ester Mejstrikova, Marek Ussowicz, Emma Morris, Preeti Singh, Matthew Collin, Marta Derecka, Gudrun Göhring, Christian Flotho, Brigitte Strahm, Franco Locatelli, Charlotte M. Niemeyer, Eirini Trompouki, Marcin W. Wlodarski, European Working Group of MDS in Childhood (EWOG-MDS) Leukemia, 2020
Hepatic Tumours Matteo Carella, Riccardo Masetti, Claudio Antonellini, Beatrice Randi, Andrea Pession Neonatal Surgery Contemporary Strategies from Fetal Life to the First Year of Age, 2019
Wilms Tumor in Neonates Matteo Carella, Riccardo Masetti, Claudio Antonellini, Beatrice Randi, Andrea Pession Neonatal Surgery Contemporary Strategies from Fetal Life to the First Year of Age, 2019
Neuroblastoma in Neonates Matteo Carella, Riccardo Masetti, Claudio Antonellini, Beatrice Randi, Andrea Pession, Mario Lima Neonatal Surgery Contemporary Strategies from Fetal Life to the First Year of Age, 2019
RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia Daniel B. Lipka, Tania Witte, Reka Toth, Jing Yang, Manuel Wiesenfarth, Peter Nöllke, Alexandra Fischer, David Brocks, Zuguang Gu, Jeongbin Park, Brigitte Strahm, Marcin Wlodarski, Ayami Yoshimi, Rainer Claus, Michael Lübbert, Hauke Busch, Melanie Boerries, Mark Hartmann, Maximilian Schönung, Umut Kilik, Jens Langstein, Justyna A. Wierzbinska, Caroline Pabst, Swati Garg, Albert Catalá, Barbara De Moerloose, Michael Dworzak, Henrik Hasle, Franco Locatelli, Riccardo Masetti, Markus Schmugge, Owen Smith, Jan Stary, Marek Ussowicz, Marry M. van den Heuvel-Eibrink, Yassen Assenov, Matthias Schlesner, Charlotte Niemeyer, Christian Flotho, Christoph Plass Nature Communications, 2017
Outcome of children with acute leukemia given HLA-haploidentical HSCT after ab T-cell and B-cell depletion Franco Locatelli, Pietro Merli, Daria Pagliara, Giuseppina Li Pira, Michela Falco, Daniela Pende, Roberto Rondelli, Barbarella Lucarelli, Letizia Pomponia Brescia, Riccardo Masetti, Giuseppe Maria Milano, Valentina Bertaina, Mattia Algeri, Rita Maria Pinto, Luisa Strocchio, Raffaella Meazza, Lavinia Grapulin, Rupert Handgretinger, Alessandro Moretta, Alice Bertaina, Lorenzo Moretta Blood, 2017
Hh/Gli antagonist in acute myeloid leukemia with CBFA2T3-GLIS2 fusion gene Riccardo Masetti, Salvatore Nicola Bertuccio, Annalisa Astolfi, Francesca Chiarini, Annalisa Lonetti, Valentina Indio, Matilde De Luca, Jessica Bandini, Salvatore Serravalle, Monica Franzoni, Martina Pigazzi, Alberto Maria Martelli, Giuseppe Basso, Franco Locatelli, Andrea Pession Journal of Hematology and Oncology, 2017
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents Marcin W. Wlodarski, Shinsuke Hirabayashi, Victor Pastor, Jan Starý, Henrik Hasle, Riccardo Masetti, Michael Dworzak, Markus Schmugge, Marry van den Heuvel-Eibrink, Marek Ussowicz, Barbara De Moerloose, Albert Catala, Owen P. Smith, Petr Sedlacek, Arjan C. Lankester, Marco Zecca, Victoria Bordon, Susanne Matthes-Martin, Jonas Abrahamsson, Jörn Sven Kühl, Karl-Walter Sykora, Michael H. Albert, Bartlomiej Przychodzien, Jaroslaw P. Maciejewski, Stephan Schwarz, Gudrun Göhring, Brigitte Schlegelberger, Annámaria Cseh, Peter Noellke, Ayami Yoshimi, Franco Locatelli, Irith Baumann, Brigitte Strahm, Charlotte M. Niemeyer Blood, 2016
LIN28B overexpression defines a novel fetal-like subgroup of juvenile myelomonocytic leukemia Hetty H. Helsmoortel, Silvia Bresolin, Tim Lammens, Hélène Cavé, Peter Noellke, Aurélie Caye, Farzaneh Ghazavi, Andrica de Vries, Henrik Hasle, Veerle Labarque, Riccardo Masetti, Jan Stary, Marry M. van den Heuvel-Eibrink, Jan Philippé, Nadine Van Roy, Yves Benoit, Frank Speleman, Charlotte Niemeyer, Christian Flotho, Giuseppe Basso, Geertruy te Kronnie, Pieter Van Vlierberghe, Barbara De Moerloose Blood, 2016
Heterogeneous cytogenetic subgroups and outcomes in childhood acute megakaryoblastic leukemia: A retrospective international study Hiroto Inaba, Yinmei Zhou, Oussama Abla, Souichi Adachi, Anne Auvrignon, H. Berna Beverloo, Eveline de Bont, Tai-Tsung Chang, Ursula Creutzig, Michael Dworzak, Sarah Elitzur, Alcira Fynn, Erik Forestier, Henrik Hasle, Der-Cherng Liang, Vincent Lee, Franco Locatelli, Riccardo Masetti, Barbara De Moerloose, Dirk Reinhardt, Laura Rodriguez, Nadine Van Roy, Shuhong Shen, Takashi Taga, Daisuke Tomizawa, Allen E. J. Yeoh, Martin Zimmermann, Susana C. Raimondi Blood, 2015
Gonadal tumors Riccardo Masetti, Daniele Zama, Francesca Vendemini, Andrea Pession Pediatric Urology Contemporary Strategies from Fetal Life to Adolescence, 2015
Criteria for evaluating response and outcome in clinical trials for children with juvenile myelomonocytic leukemia C. M. Niemeyer, M. L. Loh, A. Cseh, T. Cooper, C. C. Dvorak, R. Chan, B. Xicoy, U. Germing, S. Kojima, A. Manabe, M. Dworzak, B. De Moerloose, J. Stary, O. P. Smith, R. Masetti, A. Catala, E. Bergstraesser, M. Ussowicz, O. Fabri, A. Baruchel, H. Cave, M. Zwaan, F. Locatelli, H. Hasle, M. M. van den Heuvel-Eibrink, C. Flotho, A. Yoshimi Haematologica, 2015
HLA-haploidentical stem cell transplantation after removal of αβ+ T and B cells in children with nonmalignant disorders Alice Bertaina, Pietro Merli, Sergio Rutella, Daria Pagliara, Maria Ester Bernardo, Riccardo Masetti, Daniela Pende, Michela Falco, Rupert Handgretinger, Francesca Moretta, Barbarella Lucarelli, Letizia P. Brescia, Giuseppina Li Pira, Manuela Testi, Caterina Cancrini, Nabil Kabbara, Rita Carsetti, Andrea Finocchi, Alessandro Moretta, Lorenzo Moretta, Franco Locatelli Blood, 2014
T(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: An international study of 62 patients J. D. Sandahl, E. A. Coenen, E. Forestier, J. Harbott, B. Johansson, G. Kerndrup, S. Adachi, A. Auvrignon, H. B. Beverloo, J.-M. Cayuela, L. Chilton, M. Fornerod, V. de Haas, C. J. Harrison, H. Inaba, G. J. L. Kaspers, D.-C. Liang, F. Locatelli, R. Masetti, C. Perot, S. C. Raimondi, K. Reinhardt, D. Tomizawa, N. von Neuhoff, M. Zecca, C. M. Zwaan, M. M. van den Heuvel-Eibrink, H. Hasle Haematologica, 2014
Somatic PTPN11 mutations in childhood acute myeloid leukaemia Marco Tartaglia, Simone Martinelli, Ivano Iavarone, Giovanni Cazzaniga, Monica Spinelli, Emanuela Giarin, Valentina Petrangeli, Claudio Carta, Riccardo Masetti, Maurizio Aricò, Franco Locatelli, Giuseppe Basso, Mariella Sorcini, Andrea Pession, Andrea Biondi British Journal of Haematology, 2005
RECENT SCHOLAR PUBLICATIONS
Thrombopoietin Receptor Agonists for Treating Poor Graft Function and Thrombocytopenia Post-Autologous Stem Cell Transplantation in Children D Leardini, A Di Battista, F Gottardi, F Baccelli, RM Mura, RE Saia, ... European journal of haematology 116 (6), 954-956 , 2026 2026
Neutropenia and infectious events during off-label treatment with venetoclax in children with malignant disease: a pharmacovigilance analysis of FDA adverse event reporting … E Muratore, V Giunchi, M Fusaroli, F Baccelli, F Gottardi, E Poluzzi, ... Annals of Hematology 105 (5), 264 , 2026 2026
Improved outcomes of the refined risk-stratification and risk-adapted therapy in children with acute myeloid leukemia: final results of the AIEOP AML 2013 F Locatelli, B Buldini, M Pigazzi, C Rizzari, G Menna, F Fagioli, M Tumino, ... Journal of Hematology & Oncology , 2026 2026
Use of Eltrombopag to Treat Poor Graft Function after Allogeneic Hematopoietic Stem Cell Transplantation in Children: A Retrospective Multicenter Study F Pierri, F Bagnasco, S Pestarino, F Saglio, F Fagioli, R Masetti, ... Transplantation and Cellular Therapy, Official Publication of the American … , 2026 2026 Citations: 1
Simultaneous integrated boost (SIB) imrt for bone metastases in metastatic breast cancer: A long-term outcome analysis V Masiello, A Fabi, S Manfrida, F Moschella, G Garufi, L Scardina, ... European Journal of Cancer 237 , 2026 2026
Impact of nutritional source modality on weight loss and BMI reduction after hematopoietic stem cell transplantation FP Tambaro, F Fabozzi, R Masetti, F Cacace, G Pagano, F Cecere, ... Frontiers in Oncology 16, 1778224 , 2026 2026
Lymphoproliferation in inborn errors of immunity: From challenging diagnosis to histologic revision M Moratti, B Rivalta, A Cardoni, V Santilli, E Attardi, EC Manno, R Ciudino, ... Journal of Human Immunity 2 (2), e20250174 , 2026 2026 Citations: 2
Pre-HCT Resistome Disruption Predicts ESBL Gene Expansion in Pediatric Transplant Recipients: A Prospective Multi-Center Study M Duggar, Y Sun, D Leardini, Q Jia, E Muratore, RH Dallas, J Ferrolino, ... medRxiv, 2026.01. 20.26344466 , 2026 2026
SEVERE VANISHING BILE DUCT SYNDROME AFTER ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION IN PEDIATRIC PATIENTS G Ferrando, S Pestarino, S Napolitano, G Lucchini, D Leardini, R Masetti, ... Transplantation and cellular therapy, S2666-6367 (26) 00051-5 , 2026 2026
Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function T Vatovec, AL Neehus, KJL Jackson, DT Avery, I Bagarić, L Erazo, ... Nature Immunology, 1-15 , 2026 2026 Citations: 1
Letermovir prophylaxis does not hinder immune reconstitution while reshaping viral infection landscape in children Immune reconstitution under letermovir in children M Spadea, F Romani, S Nucera, A Tomatis, R Vitale, V Carzaniga, ... Transplantation and Cellular Therapy , 2025 2025 Citations: 2
Mediterranean diet adherence among women attending mobile breast cancer prevention program: results of a cross-sectional study in Italy A Maio, A Di Leone, S Di Grande, G Franceschini, S Magno, ... 2025
Distinct functional and compositional properties in the gut microbiome of children with acute lymphoblastic leukaemia identified by shotgun metagenomics E Muratore, G Conti, M Fabbrini, D Zama, N Decembrino, P Muggeo, ... Scientific Reports 15 (1), 43082 , 2025 2025 Citations: 1
GENETIC LANDSCAPE OF PRIMARY MYELODYSPLASTIC SYNDROMES WITH EXCESS OF BLASTS (MDS-EB) IN CHILDREN AND ADOLESCENTS D Leardini, M Erlacher, L Vinci, B De Moerloose, H Hasle, K Hetnik, ... EJC Paediatric Oncology 6 , 2025 2025
COMPREHENSIVE CHARACTERIZATION OF SOMATIC PTPN11-MUTATED JMML E Muratore, V de Haas, D Bresters, C Flotho, P Goncalves, M Hofmans, ... EJC Paediatric Oncology 6 , 2025 2025
GENETIC LANDSCAPE AND OUTCOMES AFTER HEMATOPOIETIC STEM CELL TRANSPLANTATION IN CHILDREN AND ADOLESCENTS WITH THERAPY-RELATED MYELOID NEOPLASMS L Vinci, S Ramamoorthy, EM Kornemann, V De Haas, B De Moerloose, ... EJC Paediatric Oncology 6 , 2025 2025
COAGULATIVE ABNORMALITIES IN PATIENTS WITH CBL SYNDROME E Muratore, J Bohlen, D Leardini, G Cedric, M Gadea, A Catala, ... EJC Paediatric Oncology 6 , 2025 2025
IMPROVED ENGRAFTMENT FOLLOWING A TREOSULFAN-FLUDARABINE CONDITIONING REGIMEN COMPARED TO THIOTEPA-FLUDARABINE IN PATIENTS WITH REFRACTORY CYTOPENIA OF CHILDHOOD B Strahm, A Yoshimi, I Bodova, J Buechner, A Catala, V de Haas, ... EJC Paediatric Oncology 6 , 2025 2025
LONG-TERM OUTCOME OF AN OBSERVATIONAL APPROACH IN PATIENTS WITH NRAS-MUTATED JUVENILE MYELOMONOCYTIC LEUKEMIA AND ABSENCE OF HIGH RISK FEATURES J De Waele, M Hofmans, A Fischer, A Catala, M Dworzak, M Erlacher, ... EJC Paediatric Oncology 6 , 2025 2025
Hematopoietic stem cell transplantation disrupts age-related gut microbiota signatures in pediatric and adult recipients D Leardini, M Roberto, S Roggiani, E Muratore, M Fabbrini, G Storci, ... Bone Marrow Transplantation 60 (12), 1611-1621 , 2025 2025 Citations: 4
MOST CITED SCHOLAR PUBLICATIONS
HLA-haploidentical stem cell transplantation after removal of αβ + T and B cells in children with nonmalignant disorders A Bertaina, P Merli, S Rutella, D Pagliara, ME Bernardo, R Masetti, ... Blood, The Journal of the American Society of Hematology 124 (5), 822-826 , 2014 2014 Citations: 541
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents MW Wlodarski, S Hirabayashi, V Pastor, J Starý, H Hasle, R Masetti, ... Blood, The Journal of the American Society of Hematology 127 (11), 1387-1397 , 2016 2016 Citations: 502
Outcome of children with acute leukemia given HLA-haploidentical HSCT after αβ T-cell and B-cell depletion F Locatelli, P Merli, D Pagliara, G Li Pira, M Falco, D Pende, R Rondelli, ... Blood, The Journal of the American Society of Hematology 130 (5), 677-685 , 2017 2017 Citations: 379
Results of the AIEOP AML 2002/01 multicenter prospective trial for the treatment of children with acute myeloid leukemia A Pession, R Masetti, C Rizzari, MC Putti, F Casale, F Fagioli, M Luciani, ... Blood, The Journal of the American Society of Hematology 122 (2), 170-178 , 2013 2013 Citations: 258
Breast cancer treatment: A phased approach to implementation M Mutebi, BO Anderson, C Duggan, C Adebamowo, G Agarwal, Z Ali, ... Cancer 126, 2365-2378 , 2020 2020 Citations: 249
Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype G Cazzaniga, MG Dell'Oro, C Mecucci, E Giarin, R Masetti, V Rossi, ... Blood 106 (4), 1419-1422 , 2005 2005 Citations: 232
Unbalance of intestinal microbiota in atopic children M Candela, S Rampelli, S Turroni, M Severgnini, C Consolandi, ... BMC microbiology 12 (1), 95 , 2012 2012 Citations: 225
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes SS Sahoo, VB Pastor, C Goodings, RK Voss, EJ Kozyra, A Szvetnik, ... Nature medicine 27 (10), 1806-1817 , 2021 2021 Citations: 199
CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype R Masetti, M Pigazzi, M Togni, A Astolfi, V Indio, E Manara, R Casadio, ... Blood, The Journal of the American Society of Hematology 121 (17), 3469-3472 , 2013 2013 Citations: 176
Gut microbiota trajectory in pediatric patients undergoing hematopoietic SCT E Biagi, D Zama, C Nastasi, C Consolandi, J Fiori, S Rampelli, S Turroni, ... Bone marrow transplantation 50 (7), 992-998 , 2015 2015 Citations: 160
Indoleamine 2, 3-dioxygenase 1 (IDO1) activity in leukemia blasts correlates with poor outcome in childhood acute myeloid leukemia V Folgiero, BM Goffredo, P Filippini, R Masetti, G Bonanno, R Caruso, ... Oncotarget 5 (8), 2052 , 2013 2013 Citations: 156
Anthracycline and trastuzumab-induced cardiotoxicity in breast cancer. MA Nicolazzi, A Carnicelli, M Fuorlo, A Scaldaferri, R Masetti, R Landolfi, ... European Review for Medical & Pharmacological Sciences 22 (7) , 2018 2018 Citations: 149
Role of nutrition in pediatric patients with cancer L Pedretti, S Massa, D Leardini, E Muratore, S Rahman, A Pession, ... Nutrients 15 (3), 710 , 2023 2023 Citations: 142
RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia DB Lipka, T Witte, R Toth, J Yang, M Wiesenfarth, P Nöllke, A Fischer, ... Nature communications 8 (1), 2126 , 2017 2017 Citations: 142
Characterization of human breast tissue microbiota from core needle biopsies through the analysis of multi hypervariable 16S-rRNA gene regions L Costantini, S Magno, D Albanese, C Donati, R Molinari, A Filippone, ... Scientific reports 8 (1), 16893 , 2018 2018 Citations: 141
Recurrent abnormalities can be used for risk group stratification in pediatric AMKL: a retrospective intergroup study JDE De Rooij, R Masetti, MM Van Den Heuvel-Eibrink, JM Cayuela, ... Blood, The Journal of the American Society of Hematology 127 (26), 3424-3430 , 2016 2016 Citations: 140
t (6; 9)(p22; q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients JD Sandahl, EA Coenen, E Forestier, J Harbott, B Johansson, G Kerndrup, ... Haematologica 99 (5), 865 , 2014 2014 Citations: 130
Perfluoroalkyl substances in human milk: a first survey in Italy A Barbarossa, R Masetti, T Gazzotti, D Zama, A Astolfi, B Veyrand, ... Environment international 51, 27-30 , 2013 2013 Citations: 123
Somatic PTPN11 mutations in childhood acute myeloid leukaemia M Tartaglia, S Martinelli, I Iavarone, G Cazzaniga, M Spinelli, E Giarin, ... British journal of haematology 129 (3), 333-339 , 2005 2005 Citations: 109
Heterogeneous cytogenetic subgroups and outcomes in childhood acute megakaryoblastic leukemia: a retrospective international study H Inaba, Y Zhou, O Abla, S Adachi, A Auvrignon, HB Beverloo, E De Bont, ... Blood, The Journal of the American Society of Hematology 126 (13), 1575-1584 , 2015 2015 Citations: 102