骨髄異形成症候群に続発するB細胞急性リンパ芽球性白血病：症例報告と文献レビュー

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 60 MDS and MDS/MPN cases reported in the literature so far.