Case report reveals genetic alterations in a male with myelodysplastic syndromes progressing to acute lymphoblastic leukemia, suggesting novel mutations.
Abstract Myelodysplastic syndromes (MDS) comprise clonal hematopoietic stem cell disorders characterized by heterogeneous clinical manifestations. Approximately 20–30% of MDS cases progress to acute myeloid leukemia, whereas transformation to acute lymphoblastic leukemia (ALL) is extremely rare. In this report, we present the case of a Chinese male patient who presented with MDS-refractory anemia with ringed sideroblasts, which developed into B-cell ALL. During disease transformation, the patient acquired novel gene mutations. By comparing the gene mutations identified at the initial MDS diagnosis with those observed at the time of transformation to ALL, we aim to elucidate the genetic alterations associated with disease progression. Furthermore, we provide a comprehensive review of 55 MDS cases reported in the literature so far.
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Ding et al. (2025) studied this question.
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