慢粒急变嗜碱性粒细胞白血病伴罕见染色体畸变一例并文献复习

1 Case of CML blastic transformation into basophilic cell leukemia with rare chromosome aberrations and literature review

目的报道1例CML急变嗜碱性粒细胞白血病罕见染色体异常并分析其急变的分子遗传学机制。方法采用常规方法检查CML患者外周血和骨髓细胞,应用G-显带技术分析骨髓细胞核型。结果患者具CML急变嗜碱性粒细胞白血病典型的外周血和骨髓象特征,Ph(+),伴有8号染色体三体和四体、19号染色体三体、20号染色体三体、22号染色体三体、i(17q)等附加染色体畸变。结论8、9、17及22号染色体畸变致BCR/ABL、p53、C-myc和p16等基因的异常表达可能是CML急变的分子遗传学基础。

Objective To report 1 case of CML blastie transformation into basophilic cell leukemia with rare chromosome aberrations and analyze its mechanism of molecular genetics. Methods Cytological examinations were performed according to conventional methods in peripheral blood and bone marrow samples from the patient with CML, and karyotype in bone marrow was analyzed by G-banding. Results The patient had Characteristics of CML blastic transformation into basophilie cell leukemia in peripheral blood and bone marrow. Cytogenetically, the karyotype showed the very complex ehromosoma aberrations, including Ph positive, trisomy 8,tetrasomy 8, trisomyl9, trisomy 20, trisomy 22, i （17q） et al. Conclusion Abnormal expression of BCR/ABLp53,C-myc and pl6 genes due to chromosome aberrations may be the molecular mechanisms of CML blast crisis.