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MDS 2023 | Pathophysiology of progression of Fanconi anemia to MDS/AML

Jean Soulier, MD, PhD, Saint-Louis Hospital, Paris, France, discusses the mechanisms of progression from Fanconi anemia (FA) to myelodysplastic syndromes (MDS). Prof. Soulier comments on the results of a study that used genomic and functional approaches to decipher these mechanisms and identified that chromosome 1q abnormalities are associated with clonal hematopoiesis (CH) which may or may not lead to leukemic transformation. Prof. Soulier highlights the importance of single-cell approaches to monitor patients with chromosome 1q abnormalities and other lesions that increase the risk of transformation. This interview took place at the 17th International Congress on Myelodysplastic Syndromes 2023 (MDS 2023) held in Marseille, France.

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