摘要
目的研究伴复杂核型异常（complex chromosomal abnormalities，CCAs）的髓系恶性血液病中17号染色体的异常特征。方法经R显带常规细胞遗传学分析显示CCAs的73例髓系恶性血液病，包括21例急性髓系白血病（acute myeloid leukemia，AML）、36例慢性髓系白血病（chronic myeloid leukemja，CML）、16例骨髓增生异常综合征（myelodysplastic syndrome，MDS），并进一步多重荧光原位杂交分析。结果73例伴CCAs的髓系恶性血液病中，17号染色体异常最常见，占46．5％（34／73），其中AML12例，CML13例，MDS9例，9例CML慢性期患者均未见17号染色体异常。结构异常较多见，总发生率为43．8％（32M3）；AML、CML、MDS3组发生率分别为52．4％（11／21）、33．3％（12／36）、56．3％（9／16）；所有病例中发生数目异常共15．1％（11／73），三组发生率分别为25．0％（3／12）、38．5％（5／13）、33．3％（3／9），11例数目异常均为-17。有9例同时出现数目异常和结构异常。伴有17号染色体的结构异常中，以非平衡易位多见，3组分别为16、15、8个；平衡易位2个，分别为发生于AML中的t（15；17）及发生于CML中的t（15；17；22）。17号染色体结构易位的对手染色体多变，包括了除5号、6号和22号外的所有染色体。结构易位频率最高的对手染色体是15号，占8．2％（6／73）；其次为2号，占5．4％（4／73）。6例存在17号与15号易位的病例中5例为急性早幼粒白血病，1例为CML急变期。结论伴CCAs的髓系恶性血液病中17号染色体异常发生率高，以结构异常为主。所有的数目异常均为-17；结构异常以非平衡易位多见。
Objective To investigate the characteristics of the abnormalities of chromosome 17 in myeloid malignancies with complex chromosomal abnormalities （CCAs）. Methods Abnormalities of chromosome 17 were analyzed in 73 patients with myeloid malignancies with CCAs showed by R banding and conventional karyotyping, including 21 acute myeloid leukemia （AML）, 36 chronic myeloid leukemia （CML） and 16 myelodysplastic syndrome （MDS）. All CCAs were further analyzed by multiplex fluorescence in situ hybridization （M-FISH）. Results Among the 73 myeloid malignancies with CCAs, chromosome 17 was the most frequently involved chromosome. It was found in 46.5%0 （34/73） of all eases, including 12 AML, 13 CML in blast crisis （BC） and 9 MDS. However, it was not found in the 9 CML cases in chronic phase （CP）. The majority of changes were structural rearrangements which were identified in 43.8% （32/73） of all cases, among them the frequency was 52.4% （ 11/21 ）, 33.3 % （12/36） and 56.3 % （9/16） in AML, CML and MDS, respectively. Numerical abnormalities were detected in 15.1% （11/73） cases, all were monosomy 17, and the frequency was 25.0% （3/12）, 38.5% （5/13） and 33.3% （3/9） in AML, CML and MDS, respectively. Both numerical and structural abnormalities of chromosome 17 were found in 9 cases. Unbalanced translocations involving chromosome 17 were much more frequent than balanced ones. In the 3 groups, 16, 15 and 8 unbalanced transloeations were found respectively. Only two kind of balanced translocations including t（15;17） in AML and t（15;17;22） in CML were found. All chromosomes were involved except chromosomes 5, 6 and 22 as partner chromosomes, the most common one was chromosome 15 （8.2%）, followed by chromosome 2 （5.4%）. Five of the 6 cases with translocation of chromosomes 15 and 17 were acute promyelocyfic leukemia, the other ease was CML-BC. Conclusion Abnormalities of chromosome 17 were the most frequently involved chromosomal aberrations in myeloid malig
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2008年第5期579-582,共4页
Chinese Journal of Medical Genetics
基金
江苏省135工程医学重点人才基金（RC2002044）
卫生部科研课题（WKJ2005-2025,2007-3-001）
