{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T01:20:45Z","timestamp":1787966445849,"version":"build-2784847793"},"reference-count":25,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T00:00:00Z","timestamp":1749168000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We analyzed 193 Fanconi anemia patients from the Italian Registry, focusing on hematological outcome, cancer risk, and mortality, both in transplanted (<jats:italic>n<\/jats:italic>\u2009=\u2009130, 67.4% of the cohort) and non\u2010transplanted (<jats:italic>n<\/jats:italic>\u2009=\u200963, 36.6% of the cohort) patients. After a median follow\u2010up of 7\u2009years, almost all patients developed cytopenia that was more frequent in patients receiving hematopoietic stem cell transplantation (HSCT). The cumulative overall survival from birth was 91.0% at age 10\u2009years, 71.6% at age 20, and 47.4% at age 30\u2009years; the median survival age was 29.1\u2009years. When stratifying patients by indication for transplantation (moderate vs. severe cytopenia vs. persistent poor prognosis cytogenetic alterations\/acute myeloid leukemia), we found a 5\u2010year cumulative mortality higher, though not significantly (<jats:italic>p<\/jats:italic>\u2009=\u20090.281) in the last group. Cancers were the second most common cause of death in the whole cohort after infections. Head and neck squamous cell carcinoma was the most frequent cancer, followed by hematologic neoplasms. The cumulative incidence of solid\/hematological malignancy remarkably increased after 20\u2009years of age and was 51.7% at age 40\u2009years. The risk of malignancies was greater in subjects who received HSCT (sub\u2010distribution azard ratio 2.9, 95% CI: 1.1\u20137.5, <jats:italic>p<\/jats:italic>\u2009=\u20090.024). We also identified a small group of patients with stable or even improved cytopenia over time without transplant, thus confirming that bone marrow failure is not automatic in all patients and heightening the importance of tight monitoring to surveil on the worsening of hematopoietic function and cancer occurrence. Overall, this study provides important findings that may help to make robust clinical decisions.<\/jats:p>","DOI":"10.1002\/ajh.27724","type":"journal-article","created":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T11:38:37Z","timestamp":1749209917000},"page":"1387-1396","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Long\u2010Term Outcome of Fanconi Anemia Patients From the Italian Registry on Behalf of the Marrow Failure Study Group of the <scp>AIEOP<\/scp> (Italian Association for Pediatric Haematology\u2010Oncology)"],"prefix":"10.1002","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4992-598X","authenticated-orcid":false,"given":"Erica","family":"Ricci","sequence":"first","affiliation":[{"name":"Infectious Diseases Unit IRCCS Istituto G. Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Bagnasco","sequence":"additional","affiliation":[{"name":"Epidemiology and Biostatistics Unit IRCCS Istituto G. Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filomena","family":"Pierri","sequence":"additional","affiliation":[{"name":"Hematopoietic Stem Cell Transplantation Unit IRCCS Istituto G. Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4744-5109","authenticated-orcid":false,"given":"Antonio","family":"Risitano","sequence":"additional","affiliation":[{"name":"AORN San Giuseppe Moscati  Avellino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Farruggia","sequence":"additional","affiliation":[{"name":"Pediatric Onco\u2010Haematology A.R.N.A.S., Civico di Cristina e Benfratelli  Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maura","family":"Faraci","sequence":"additional","affiliation":[{"name":"Hematopoietic Stem Cell Transplantation Unit IRCCS Istituto G. Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9348-091X","authenticated-orcid":false,"given":"Camilla","family":"Frieri","sequence":"additional","affiliation":[{"name":"AORN San Giuseppe Moscati  Avellino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Corti","sequence":"additional","affiliation":[{"name":"Pediatria Fondazione IRCCS San Gerardo dei Tintori  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugo","family":"Ramenghi","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences Ospedale Infantile Regina Margherita  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Quarello","sequence":"additional","affiliation":[{"name":"Hemaotlogy Unit Pediatric Department Ospedale Infantile Regina Margherita  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter","family":"Barberi","sequence":"additional","affiliation":[{"name":"Hematology AOU Policlinico Umberto I  Roma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Menna","sequence":"additional","affiliation":[{"name":"Hemato\u2010Oncology Unit, Department of Oncology, Hematology and Cellular Therapy AORN Santobono Pausilipon  Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Giagnuolo","sequence":"additional","affiliation":[{"name":"Hemato\u2010Oncology Unit, Department of Oncology, Hematology and Cellular Therapy AORN Santobono Pausilipon  Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Pillon","sequence":"additional","affiliation":[{"name":"Clinic of Pediatric Onco\u2010Hematology, Department of Women's and Children's Health University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9816-1704","authenticated-orcid":false,"given":"Maurizio","family":"Miano","sequence":"additional","affiliation":[{"name":"Hematology Unit IRCCS Istituto G. Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Di Bartolomeo","sequence":"additional","affiliation":[{"name":"Terapia Intensiva Ematologica, Dipartimento Oncologico Ematologico Ospedale Civile  Pescara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Santarone","sequence":"additional","affiliation":[{"name":"Bone Marrow Transplant Center Hematology Presidio Ospedaliero di Pescara  Pescara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Zecca","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\/Oncology Fondazione IRCCS Policlinico San Matteo  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Mastrodicasa","sequence":"additional","affiliation":[{"name":"Paediatric Onco\u2010Haematology Unit Ospedale Santa Maria della Misericordia  Perugia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosamaria","family":"Mura","sequence":"additional","affiliation":[{"name":"Pediatric Oncology Unit Azienda Ospedaliera Brotzu  Cagliari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Pinazzi","sequence":"additional","affiliation":[{"name":"UOC Ematologia e Trapianto di Cellule Staminali AO San Camillo Forlanini  Roma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Luti","sequence":"additional","affiliation":[{"name":"Paediatric Oncology and Haematology Department Santa Chiara Hospital, Azienda Ospedaliero Universitaria Pisana  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Licciardello","sequence":"additional","affiliation":[{"name":"Pediatric Onco\u2010Hematology Unit Azienda Policlinico Rodolico San Marco, Department of Clinical and Experimental Medicine, University of Catania  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica","family":"Barone","sequence":"additional","affiliation":[{"name":"Pediatric Onco\u2010Haematology Azienda Ospedaliero\u2010Universitaria di Parma  Parma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marinella","family":"Veltroni","sequence":"additional","affiliation":[{"name":"Division of Pediatric Oncology\/Hematology IRCCS Meyer Children's Hospital  Firenze Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Palazzi","sequence":"additional","affiliation":[{"name":"Dipartimento Integrato Materno Infantile, UO di Pediatria ad Indirizzo Oncoematologico Azienda Ospedaliera\u2010Universit\u00e0 di Modena  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Verzegnassi","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health IRCCS Burlo Garofolo  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Patriarca","sequence":"additional","affiliation":[{"name":"Haematology and Stem Cell Transplantation Unit Udine University Hospital, Azienda Sanitaria Universitaria Friuli Centrale  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Onofrillo","sequence":"additional","affiliation":[{"name":"Hematology Unit Hospital of Pescara  Pescara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Cesaro","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Oncology, Department of Mother and Child Azienda Ospedaliera Universitaria Integrata  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Ghilardi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics IRCCS\u2010Ospedale Maggiore Policlinico  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"D'Alba","sequence":"additional","affiliation":[{"name":"Paediatric Haematology\u2010Oncology Maternal Infant Hospital \u2018G. 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