title: How I treat MDS and AML in Fanconi anemia.
abstract: Fanconi anemia (FA) is the most frequent inherited cause of bone marrow failure (BMF). Most FA patients experience hematopoietic stem cell attrition and cytopenia during childhood, which along with intrinsic chromosomal instability, favor clonal evolution and the frequent emergence in their teens or young adulthood of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). To early identify and further predict bone marrow (BM) clonal progression and enable timely treatment, the follow-up of FA patients includes regular BM morphological and cytogenetic examinations. Allogeneic hematopoietic stem cell transplantation (HSCT) remains the only curative treatment of FA patients with MDS or AML. Although questions remain concerning HSCT itself (including the need for pretransplant chemotherapy, the best conditioning regimen, and the optimal long-term follow-up of such patients especially regarding secondary malignancies), clonal evolution in the absence of significant BM dysplasia and blast cells can be difficult to address in FA patients, for whom the concept of preemptive HSCT is discussed. Illustrated by 3 representative clinical vignettes showing specific features of MDS and AML in FA patients, this paper summarizes our practical approach from diagnosis through treatment in this particular situation.
authors.affiliation: Service d'Hématologie-Greffe, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France; Université Paris Diderot, Institut Universitaire d'Hématologie, Sorbonne Paris Cité, Paris, France; Centre de Référence Aplasie Médullaire, Assistance Publique-Hôpitaux de Paris, Paris, France; Severe Aplastic Anemia Working Party of the European Group for Blood and Marrow Transplantation, Leiden, The Netherlands;
authors.forename: Régis
authors.initials: R
authors.lastname: Peffault de Latour
authors.affiliation: Université Paris Diderot, Institut Universitaire d'Hématologie, Sorbonne Paris Cité, Paris, France; Centre de Référence Aplasie Médullaire, Assistance Publique-Hôpitaux de Paris, Paris, France; Service d'Hématologie Biologique, Hôpital Saint-Louis, Paris, France; and INSERM U944/Centre national de la recherche scientifique, Unité mixte de recherche 7212, Hôpital Saint-Louis, Paris, France.
authors.forename: Jean
authors.initials: J
authors.lastname: Soulier
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000150:complications / Q000628:therapy*; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000150:complications / Q000628:therapy*; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000628:therapy*; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous