Long‐Term 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‐Oncology)

We analyzed 193 Fanconi anemia patients from the Italian Registry, focusing on hematological outcome, cancer risk, and mortality, both in transplanted (n = 130, 67.4% of the cohort) and non-transplanted (n = 63, 36.6% of the cohort) patients. After a median follow-up of 7 years, 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 years, 71.6% at age 20, and 47.4% at age 30 years; the median survival age was 29.1 years. When stratifying patients by indication for transplantation (moderate vs. severe cytopenia vs. persistent poor prognosis cytogenetic alterations/acute myeloid leukemia), we found a 5-year cumulative mortality higher, though not significantly (p = 0.281) 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 years of age and was 51.7% at age 40 years. The risk of malignancies was greater in subjects who received HSCT (sub-distribution azard ratio 2.9, 95% CI: 1.1-7.5, p = 0.024). 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.

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Publication Details

Journal
American Journal of Hematology
Published
2025-06-06
DOI
https://doi.org/10.1002/ajh.27724
Citations
3
Primary Topic
Hematopoietic Stem Cell Transplantation
Type
article
Field-Weighted Citation Impact
5.31
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article

Long‐Term Outcome of Fanconi Anemia Patients From the Italian Registry on Behalf of the Marrow Failure Study Group of the AIEOP (Italian Association for Pediatric Haematology‐Oncology)

Irene D’Alba, Maurizio Miano, Simone Cesaro, Piero Farruggia et al.
3 citations
American Journal of Hematology
Hematopoietic Stem Cell Transplantation
5.31
article

Long‐Term Outcome of Fanconi Anemia Patients From the Italian Registry on Behalf of the Marrow Failure Study Group of the AIEOP (Italian Association for Pediatric Haematology‐Oncology)

Irene D’Alba, Maurizio Miano, Simone Cesaro, Piero Farruggia, Erica Ricci, Filomena Pierri, Walter Barberi, Antonio M. Risitano, Maura Faraci, Camilla Frieri, Giovanna Giagnuolo, Paola Quarello, Carlo Dufour, Ugo Ramenghi, Marta Pillon, Ramona Tallone, Roberta Ghilardi, Stella Santarone, Paolo Di Bartolomeo, Francesca Bagnasco, Paola Corti
article en
3 citations

Abstract

We analyzed 193 Fanconi anemia patients from the Italian Registry, focusing on hematological outcome, cancer risk, and mortality, both in transplanted (n = 130, 67.4% of the cohort) and non-transplanted (n = 63, 36.6% of the cohort) patients. After a median follow-up of 7 years, 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 years, 71.6% at age 20, and 47.4% at age 30 years; the median survival age was 29.1 years. When stratifying patients by indication for transplantation (moderate vs. severe cytopenia vs. persistent poor prognosis cytogenetic alterations/acute myeloid leukemia), we found a 5-year cumulative mortality higher, though not significantly (p = 0.281) 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 years of age and was 51.7% at age 40 years. The risk of malignancies was greater in subjects who received HSCT (sub-distribution azard ratio 2.9, 95% CI: 1.1-7.5, p = 0.024). 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.

American Journal of HematologyVol. 100(8)
University of Padua (IT), IRCCS Materno Infantile Burlo Garofolo (IT), Policlinico Umberto I (IT), Istituto Giannina Gaslini (IT), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT), University of Catania (IT), Ospedale Maggiore (IT), El.En. Group (Italy) (IT), Azienda Ospedaliera Universitaria Integrata Verona (IT), Azienda Ospedaliera San Camillo-Forlanini (IT), Ospedali Riuniti di Ancona (IT), Azienda Ospedaliero-Universitaria di Modena (IT), Azienda Ospedaliera San Gerardo (IT), Azienda Ospedaliera S.Giuseppe Moscati (IT), Meyer Children's Hospital (IT), Ospedale Santa Maria (IT), Santobono Children's Hospital (IT), Ospedale Santa Maria della Misericordia di Udine (IT), Hospital Materno-Infantil (ES), Policlinico Universitario di Catania (IT), Ospedale di Parma (IT), Ospedale Regina Margherita (IT), Institute of Genetics and Biophysics (IT), Ospedale Pediatrico Giovanni XXIII (IT), Azienda USL di Pescara (IT), Ospedale San Giuseppe (IT), Policlinico San Matteo Fondazione (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Azienda Ospedaliera Universitaria Pisana (IT), Azienda Ospedaliera G. Brotzu (IT), University of Genoa (IT)
Good health and well-being
Openalex Percentile: Top 5%
Hematopoietic Stem Cell Transplantation
5.31
DOIOpen Access PDFOpenAlex
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