Zhang Huayue, Li Guoxia, Chang Jianmei, Wang Hongwei
Institute of Hematology, the Second Hospital of Shanxi Medical University, China.
Institute of Hematology, the Second Hospital of Shanxi Medical University, China
Ann Clin Lab Sci. 2020 May;50(3):401-403.
Chromosomal aberrations play an important role in the incidence of myelodysplastic syndromes (MDS) and development to acute myeloid leukemia (AML). We report a case of a 62-year-old male patient diagnosed with MDS with excess blasts. The karyotype was 45, XY,+1,+1,-7,-10,-22,t(1;14) (q21;q32),t(1;17)(q21;p13),t(1;19)(q21;p13). The patient and his family refused treatment for financial reasons. After 2 months, the patient's MDS transformed into acute myeloid monocytic leukemia (AML-M5). This case of MDS with poor prognosis shows that patients with chromosomal numerical abnormality and balanced translocations should be treated early to prevent transition to AML. Further study of this case will reveal the molecular mechanism of MDS-to-AML transformation and identify new leukemic fusion genes.
染色体畸变在骨髓增生异常综合征（MDS）的发病及向急性髓系白血病（AML）的发展过程中起着重要作用。我们报告一例62岁男性患者，诊断为伴有过多原始细胞的MDS。核型为45，XY，+1，+1，-7，-10，-22，t(1;14)(q21;q32)，t(1;17)(q21;p13)，t(1;19)(q21;p13)。患者及其家属因经济原因拒绝治疗。2个月后，患者的MDS转化为急性髓系单核细胞白血病（AML-M5）。这例预后不良的MDS病例表明，染色体数目异常和平衡易位的患者应尽早治疗，以防止向AML转化。对该病例的进一步研究将揭示MDS向AML转化的分子机制，并鉴定新的白血病融合基因。
