获得性21三体恶性血液病的临床和细胞遗传学特征  

Clinical and cytogenetic features of hematologic nmlignancies associated with acquired trisomy 21

作　　者：王焕萍[1] 倪万茂[1] 陈志妹[1] 楼基余[1] 徐欢[1] 俞运彪[1] 钱文斌[1] 金洁[1] 

机构地区：[1]浙江大学医学院附属第一医院血液病研究所,杭州310003

出　　处：《中华医学遗传学杂志》2008年第5期576-578,共3页Chinese Journal of Medical Genetics

基　　金：浙江省科技厅国际合作项目（2005C24002）

摘　　要：目的分析21三体恶性血液病患者的临床及细胞遗传学特点。方法采用骨髓直接法和（或）培养法制备染色体标本，采用R显带技术进行核型分析，并进行临床随访。结果共发现25例患者存在21三体，其中急性髓系白血病（acute myeloid leukemia，AML）13例，占同期进行染色体检查的AML患者总数的1．5％，包括M5b6例；急性淋巴细胞（acute lymphoblastic leukemia，ALL）8例，占同期进行染色体检查的ALL患者总数的2．2％，其它类型4例。25例中13例为单纯获得性21三体，其余病例均合并其它异常。随访的19例患者的中位生存期为9个月。结论单纯21三体在AML中以M5b多见，伴21三体异常的恶性血液病预后还存在争议。Objective To investigate the association between trisomy 21 abnormalities and the clinical and cytogenetic features of hematologic malignancies. Methods Chromosome preparations were made on bone marrow cells by using direct method and/or unstimulated short-term cultures. Karyotypes were analyzed by R-banding. Results Thirteen patients （ 1.5 % ） with acute myeloid leukemia （AML） including 6 cases of MSb, 8 （2.2%） with acute lymphoblastic leukemia （ALL） and 4 cases with other hematologic malignancies had aquired trisomy 21, and in 13 patients it occurred as the sole cytogenetic abnormality. The remaining had combination with other abnormalities. The median survival for the 19 patients with trisomy 21 was 9 months. Conclusion M5b was the major type in AML with sole acquired trisomy 21. Trisomy 21 as the sole abnormality appeared to have a poor prognosis.

关 键 词：21三体 急性髓系白血病 急性淋系白血病 预后 

分 类 号：R686[医药卫生—骨科学]