伴有Y染色体缺失的恶性血液病患者临床及实验室研究8例分析

Clinical and laboratory features of hematologic malignancies with Y chromosome loss—report of eight cases

目的探讨恶性血液病伴有Y染色体缺失患者临床及实验室特点。方法对8例恶性血液病患者进行常规遗传学分析,用骨髓细胞24小时短期培养后,制备染色体标本,R技术显带后进行核型分析;利用荧光原位杂交方法,采用着丝粒探针CSP X/CSP Y(绿/红)检测Y染色体缺失;流式细胞仪间接免疫荧光法检测白细胞表面抗原,综合分析患者临床表现和实验室资料。结果 8例伴有Y染色体缺失患者中位年龄53岁(29～76岁),其中急性髓细胞性白血病(AML)5例,均有贫血表现,出血较轻。伴有附加染色体异常4例,其中伴有t(8;21)2例。患者完全缓解率低,生存期短。结论 Y染色体缺失常见于AML,尤其是伴有t(8;21)的AML,可以发生于任何年龄,具有独特的临床特征,预后不良。

Objective To investigate the clinical and laboratory characteristics of hematologic malignancies with Y chromosome loss（-Y）. Methods Bone marrow samples were collected,after short-time unstimulated culture and R- banding,the samples were karyotyped by conventional cytogenetic assay（CCA）. Y chromosome loss was detected with centromere probes of CSP X/CSP Y（the CSP X probe was labeled with spectrum green and CSP Y probe with spectrum orange） by fluorescence in situ hybridization（FISH）. Immunotype of the leukemia cells was tested by flow cytometric analysis of surface antigens（FACS）. Clinical and laboratory data were documented. Results The median age of eight patients with Y chromosome loss was 53 （range from 29 to 76）, five of them were acute myeloid leukemia,all of the eight patients presented anemia and mild bleeding. Four patients had additional chromosome aberrations, two of them harbored t（8;21）. The patients had low complete remission（CR） and short overall survival（OS）. Conclusion The Y chromosome loss is frequently demonstrated in acute myeloid leukemia, particularly harboring t（8; 21）, Y chromosome loss can occur at any age, these patients showed some clinically distinctive features and poor prognosis.