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结直肠癌的核型特征

Karyotypic characterization of colorectal adenocarcinomas.

作者信息

Bardi G, Sukhikh T, Pandis N, Fenger C, Kronborg O, Heim S

机构信息

Department of Medical Genetics, Odense University, Denmark.

出版信息

Genes Chromosomes Cancer. 1995 Feb;12(2):97-109. doi: 10.1002/gcc.2870120204.

Abstract

Cytogenetic analysis of short-term cultures from 52 primary colorectal adenocarcinomas revealed clonal chromosome aberrations in 45 tumors, whereas the remaining 7 had a normal karyotype. More than 1 abnormal clone was detected in 26 tumors; in 18 of them, the clones were cytogenetically unrelated. The modal chromosome number was near-diploid in 32 tumors and near-triploid to near-tetraploid in 13. Only numerical aberrations were identified in 13 carcinomas, only structural aberrations in 3, and 29 had both numerical and structural changes. The most common numerical abnormalities were, in order of decreasing frequency, gains of chromosomes 7, 13, 20, and Y and losses of chromosomes 18, Y, 14, and 15. The structural changes most often affected chromosomes 1, 17, 8, 7, and 13. The most frequently rearranged chromosome bands were, in order of decreasing frequency, 13q10, 17p10, 1p22, 8q10, 17p11, 7q11, 1p33, 7p22, 7q32, 12q24, 16p13, and 19p13. Frequently recurring aberrations affecting these bands were del(1)(p22), i(8)(q10), i(13)(q10), and add(17)(p11-13). The most common partial gains were from chromosome arms 8q, 13q, and 17q and the most common partial losses from chromosome arms 1p, 8p, 13p, and 17p. A correlation analysis between the karyotype and the clinicopathologic features in our total material, which consists of altogether 153 colorectal carcinomas, including 116 with an abnormal karyotype, showed a statistically significant association (P < 0.05) between the karyotype and tumor grade and site. Carcinomas with structural chromosome rearrangements were often poorly differentiated; well and moderately differentiated tumors often had only numerical aberrations or normal karyotypes. Abnormal karyotypes were more common in rectal carcinomas than in carcinomas situated higher up. Near-triploid to near-tetraploid karyotypes were more than twice as frequent in tumors of the distal colon as in those of the proximal colon and rectum. The cytogenetic data indicate that carcinomas located in the proximal colon and rectum, which often are near-diploid with simple numerical changes and cytogenetically unrelated clones, probably arise through different mechanisms than do tumors located in the distal colon, which more often have complex near-triploid to near-tetraploid karyotypes.

摘要

对52例原发性结肠直肠癌的短期培养物进行细胞遗传学分析,结果显示45例肿瘤存在克隆性染色体畸变,其余7例核型正常。26例肿瘤检测到1个以上异常克隆;其中18例的克隆在细胞遗传学上不相关。32例肿瘤的众数染色体数接近二倍体,13例接近三倍体至接近四倍体。13例癌仅发现数目畸变,3例仅发现结构畸变,29例同时有数目和结构改变。最常见的数目异常按频率递减顺序为7号、13号、20号和Y染色体增加以及18号、Y号、14号和15号染色体丢失。结构改变最常累及1号、17号、8号、7号和13号染色体。最常重排的染色体带按频率递减顺序为13q10、17p Io、1p22、8q10、17p11、7q11、1p33、7p22、7q32、12q24、16p13和19p13。影响这些带的常见重复畸变有del(1)(p22)、i(8)(q10)、i(13)(q10)和add(17)(p11 - 13)。最常见的部分增加来自8q、13q和17q染色体臂,最常见的部分丢失来自1p、8p、13p和17p染色体臂。对我们总共153例结肠直肠癌(包括116例核型异常者)的核型与临床病理特征进行相关性分析,结果显示核型与肿瘤分级和部位之间存在统计学显著关联(P<0.05)。有染色体结构重排的癌通常分化差;高分化和中分化肿瘤通常仅有数目畸变或核型正常。核型异常在直肠癌中比在高位癌中更常见。近三倍体至近四倍体核型在远端结肠癌中的频率是近端结肠癌和直肠癌的两倍多。细胞遗传学数据表明,位于近端结肠和直肠的癌通常接近二倍体,有简单的数目改变和细胞遗传学上不相关的克隆,其发生机制可能与位于远端结肠的肿瘤不同,后者更常具有复杂的近三倍体至近四倍体核型。

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