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) - PubMed (original) (raw)

. 2025 Aug;100(8):1387-1396.

doi: 10.1002/ajh.27724. Epub 2025 Jun 6.

Francesca Bagnasco 2, Filomena Pierri 3, Antonio Risitano 4, Piero Farruggia 5, Maura Faraci 3, Camilla Frieri 4, Paola Corti 6, Ugo Ramenghi 7, Paola Quarello 8, Walter Barberi 9, Giuseppe Menna 10, Giovanna Giagnuolo 10, Marta Pillon 11, Maurizio Miano 12, Paolo Di Bartolomeo 13, Stella Santarone 14, Marco Zecca 15, Elena Mastrodicasa 16, Rosamaria Mura 17, Beatrice Pinazzi 18, Laura Luti 19, Maria Licciardello 20, Angelica Barone 21, Marinella Veltroni 22, Giovanni Palazzi 23, Federico Verzegnassi 24, Francesca Patriarca 25, Daniela Onofrillo 26, Simone Cesaro 27, Roberta Ghilardi 28, Irene D'Alba 29, Rosa Angarano 30, Luca Arcuri 31, Andrea Beccaria 32, Ramona Tallone 32, Adriana Zatterale 33, Carlo Dufour 12

Affiliations

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)

Erica Ricci et al. Am J Hematol. 2025 Aug.

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.

Keywords: Fanconi anemia; bone marrow failure; cancer occurrence; cytopenia; hematopoietic stem cells transplantation.

© 2025 The Author(s). American Journal of Hematology published by Wiley Periodicals LLC.

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Conflict of interest statement

Dr. Carlo Dufour has been payed in 2023 honoraria for consultation by Rockets Pharmaceuticals.

Figures

FIGURE 1

FIGURE 1

Cumulative mortality since HSCT.

FIGURE 2

FIGURE 2

Cumulative mortality since eligibility to HSCT. (A) Patients with transplant indication because of moderate. (B) Patients with transplant indication because of severe cytopenia; comparison by type of transplant or non‐transplant. Haplo transplants (n = 4) are not included in the curve. (C) Patients with transplant indication from year 2000 because of severe cytopenia: Comparison by type of transplant or non‐transplant.

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