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How I treat MDS and AML in Fanconi anemia
Régis Peffault de Latour1, Jean Soulier2
1Service 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;
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.
Insights
Fanconi anemia (FA), a bone marrow failure disorder, often leads to myelodysplastic syndrome and acute myeloid leukemia. Early detection and hematopoietic stem cell transplantation are crucial for managing these serious complications.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Fanconi anemia (FA) is the primary inherited cause of bone marrow failure (BMF).
- FA patients frequently develop cytopenias and chromosomal instability, increasing risks for myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).
Observation:
- Regular bone marrow examinations are vital for monitoring clonal progression in FA patients.
- Identifying clonal evolution, especially without overt dysplasia, presents diagnostic challenges.
Findings:
- Allogeneic hematopoietic stem cell transplantation (HSCT) is the sole curative option for FA patients with MDS or AML.
- Clinical vignettes illustrate practical approaches to diagnosing and treating MDS and AML in the context of FA.
Implications:
- Timely diagnosis and treatment, including considering preemptive HSCT, are critical for improving outcomes in FA patients.
- Further research is needed to optimize HSCT protocols and long-term follow-up for FA patients, particularly regarding secondary malignancies.
