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35例原发性卵巢癌中的染色体畸变

Chromosome aberrations in 35 primary ovarian carcinomas.

作者信息

Pejovic T, Heim S, Mandahl N, Baldetorp B, Elmfors B, Flodérus U M, Furgyik S, Helm G, Himmelmann A, Willén H

机构信息

Department of Clinical Genetics, University Hospital, Lund, Sweden.

出版信息

Genes Chromosomes Cancer. 1992 Jan;4(1):58-68. doi: 10.1002/gcc.2870040108.

Abstract

Cytogenetic analysis was performed on short-term cultures of primary ovarian carcinomas from 62 patients. Cytogenetic analysis was successful in 59 cases. Clonal chromosome aberrations were detected in 35 tumors. Only numerical changes or a single structural change were found in five carcinomas: trisomy 12 was the sole anomaly in two tumors, one tumor had the karyotype 50,XX, + 5, + 7, + 12, + 14, a fourth tumor had a balanced t(1;5), and the fifth tumor had an unbalanced t(8;15). The fact that four of these five carcinomas were well differentiated suggests that simple karyotypic changes are generally characteristic of these less aggressive ovarian tumors. The majority of the cytogenetically abnormal tumors (n = 30) had complex karyotypes, with both numerical and structural aberrations and often hypodiploid or near-triploid stemlines. The numerical imbalances (comparison with the nearest euploid number) were mostly losses, in order of decreasing frequency -17, -22, -13, -8, -X, and -14. The structural aberrations were mostly deletions and unbalanced translocations. Recurrent loss of genetic material affected chromosome arms 1p, 3p, 6q, and 11p. The breakpoints of the clonal structural abnormalities clustered to several chromosome bands and segments: 19p13, 11p13-15, 1q21-23, 1p36, 19q13, 3p12-13, and 6q21-23. The most consistent change (16 tumors) was a 19p + marker, and in 12 of the tumors the 19p + markers looked alike.

摘要

对62例原发性卵巢癌患者的短期培养细胞进行了细胞遗传学分析。59例分析成功。在35个肿瘤中检测到克隆性染色体畸变。在5例癌中仅发现了数目改变或单一结构改变:12号染色体三体是2个肿瘤中的唯一异常,1个肿瘤的核型为50,XX,+5,+7,+12,+14,第4个肿瘤有平衡的t(1;5),第5个肿瘤有不平衡的t(8;15)。这5例癌中有4例为高分化,这一事实提示简单的核型改变通常是这些侵袭性较低的卵巢肿瘤的特征。大多数细胞遗传学异常的肿瘤(n=30)具有复杂核型,伴有数目和结构畸变,且常常有亚二倍体或近三倍体的干系。数目失衡(与最接近的整倍体数目比较)大多为缺失,按频率递减依次为-17、-22、-13、-8、-X和-14。结构畸变大多为缺失和不平衡易位。遗传物质的反复缺失累及1p、3p、6q和11p染色体臂。克隆性结构异常的断点聚集于几个染色体带和节段:19p13、11p13 - 15、1q21 - 23、1p36、19q13、3p12 - 13和6q21 - 23。最一致的改变(16个肿瘤)是19p +标记,其中12个肿瘤中的19p +标记看起来相似。

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