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Review
. 2022 Dec 9;2022(1):649-657.
doi: 10.1182/hematology.2022000393.

Modern management of Fanconi anemia

Carlo Dufour  1 , Filomena Pierri  1
Affiliations
Review

Modern management of Fanconi anemia

Carlo Dufour et al. Hematology Am Soc Hematol Educ Program. .

Abstract

In this review, we present a clinical case report and discussion to outline the importance of long-term specific Fanconi anemia (FA) monitoring, and we discuss the main aspects of the general management of patients with FA and clinical complications. While several nontransplant treatments are currently under evaluation, hematopoietic stem cell transplantation (HSCT) remains the only therapeutic option for bone marrow failure (BMF). Although HSCT outcomes in patients with FA have remarkably improved over the past 20 years, in addition to the mortality intrinsic to the procedure, HSCT increases the risk and accelerates the appearance of late malignancies. HSCT offers the best outcome when performed in optimal conditions (moderate cytopenia shifting to severe, prior to transfusion dependence and before clonal evolution or myelodysplasia/acute myeloid leukemia); hence, an accurate surveillance program is vital. Haploidentical HSCT offers very good outcomes, although long-term effects on malignancies have not been fully explored. A monitoring plan is also important to identify cancers, particularly head and neck carcinomas, in very early phases. Gene therapy is still experimental and offers the most encouraging results when performed in early phases of BMF by infusing high numbers of corrected cells without genotoxic effects. Patients with FA need comprehensive monitoring and care plans, coordinated by centers with expertise in FA management, that start at diagnosis and continue throughout life. Such long-term follow-up is essential to detect complications related to the disease or treatment in this setting.

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Conflict of interest statement

Carlo Dufour: Advisory Board for Novartis.

Filomena Pierri: no competing financial interests to declare.

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Figure 1.
Figure 1.
Postdiagnosis hematologic monitoring and decision-making process. Modified from Dufour. BM, bone marrow; FBC, full blood count; haplo, haploidentical donor; MRD, matched related donor; MUD, matched unrelated donor.
See this image and copyright information in PMC

References

    1. Dufour C. How I manage patients with Fanconi anaemia. Br J Haematol. 2017;178(1):32-47. doi:10.1111/bjh.14615. - DOI - PubMed
    1. Svahn J, Bagnasco F, Cappelli E, et al.. Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem-cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology). Am J Hematol. 2016;91(7):666-671. - PubMed
    1. Wegman-Ostrosky T, Savage SA. The genomics of inherited bone marrow failure: from mechanism to the clinic. Br J Haematol. 2017;177(4):526-542. doi:10.1111/bjh.14535. - DOI - PubMed
    1. Ceccaldi R, Sarangi P, D'Andrea AD. The Fanconi anaemia pathway: new players and new functions. Nat Rev Mol Cell Biol. 2016;17(6):337-349. doi:10.1038/nrm.2016.48. - DOI - PubMed
    1. Garaycoechea JI, Crossan GP, Langevin F, Daly M, Arends MJ, Patel KJ. Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function. Nature. 2012;489(7417):571-575. doi:10.1038/nature11368. - DOI - PubMed

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