慢性粒细胞白血病染色体异常的研究  

Chromosomal abnormalities in 38 CML cases of various phases

作　　者：苏欣莹[1] 曹琪[1] 何凯莉[1] 陈竺[1] 陈赛娟[1] 

机构地区：[1]上海瑞金医院上海血液学研究所

出　　处：《中华医学杂志》1999年第1期34-37,共4页National Medical Journal of China

基　　金：国家自然科学基金;上海血液学研究所胡应洲基金

摘　　要：目的研究慢性粒细胞性白血病急变过程中基因组的异常。方法对１５例急变期，３例加速期和２０例慢性期的患者进行了常规细胞遗传学分析，用比较基因组杂交和双色染色体涂抹的方法。结果在所有被研究的病例中均检测到费城（Ｐｈ）染色体，其中１５例演进病例中有１２例还伴有其它的染色体数量和／或结构的异常，而２０例慢性期中仅５例伴其它异常。染色体数量变化是Ｐｈ染色体双体或三体（５／１４例）和８号染色体三体（５／１４），另有７号和１７号染色体三体（各为１例），３例均有涉及１ｑ１２２１的异常，分别为ｔ（１；１７）（ｑ１２２１；ｑ１０），ｔ（１；１０）（ｑ１２２１；ｑ２６）和ｔ（１；１１）（ｑ１２２１；ｐ１５）。比较基因组杂交分析发现有８例存在遗传不平衡，包括１ｑ、７ｐ、８、１７、２０号染色体及１７ｑ染色体ＤＮＡ量的增加和６ｑ１３２１、８ｐ、１７ｐＤＮＡ量的减少。此外，应用染色体涂抹技术检出了１例常规染色体分析未能确证的非常复杂的染色体易位，其同时存在ｄｅｌ（３），ｄｅｌ（６）（ｑ１３２１），ｄｅｒ（６）ｔ（１７；３；６），ｄｅｒ（１７）ｔ（６；１７），ｔ（９；２２）。结论我们联合运用比较基因组杂交，染色体涂抹和常规细胞遗?Objective To study the genomic abnormality underlying the blast crisis of chronic myeloid leukemia(CML). Methods 15 CML patients in blast crisis (BC), 3 in accelerated phase (AP) and 20 in chronic phase (CP) were analyzed by conventional cytogentics, comparative genomic hybridization (CGH) and dual color chromosomal painting.Results Philadelphia (Ph) chromosome was identified in every case studied. Only 5 among 20 CP patients had additional abnormalities while 12 out of 14 patients with disease progression (BC+AP) showed extra numerical and/or structural chromosmal aberrations. Cytogenetically, the most common chromosome gains during BC and AP were double or triple Ph chromosome(5/14), trisomy 8(5/14), trisomy 7(1/14) and 17(1/14). Three cases showed the same region being involved in translocations t(1;17)(q12 21;q10),t(1;10)(q12 21;q26) and t(1;11)(q12 21;p15). CGH analysis detected genetic imbalances in 8 cases. In one case, a very complex chromosmal translocation del(3), del(6)(q13 21), der(6)t(17;3;6), der(17)t(6;17) was characterized by chromosomal painting.Conclusion We find that the combined use of CGH, chromosomal painting, and classic cytogenetic analysis allows a better evaluation of the genomic aberration involved in CML blastic transformation, and offers new directions for its further molecular investigation.

关 键 词：白血病 慢性粒细胞性 染色体异常 临床研究 

分 类 号：R733.72[医药卫生—肿瘤]