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结直肠癌的细胞遗传学发现反映了结直肠癌的多步骤演变。

Cytogenetic findings in colorectal cancer mirror multistep evolution of colorectal cancer.

作者信息

Pirc-Danoewinata H, Bull J P, Okamoto I, Karner J, Breiteneder S, Liebhardt A, Budinsky A, Marosi C

机构信息

Department of Internal Medicine I, University of Vienna.

出版信息

Wien Klin Wochenschr. 1996 Dec 13;108(23):752-8.

PMID:8990513
Abstract

Successful cytogenetic analysis was performed on tumor material from 26 patients with resectable colorectal cancer. 9 women and 17 men, aged 43 to 92 years, median 67 years. Clonal anomalies were found in twenty patients; five tumors showed mainly slight numerical changes such as trisomy 7 and loss of Y (2 cases). The remaining 15 tumors had highly complex karyotypes. The mainline was near diploid in six cases (5/6 tumors of the proximal colon), near triploid in four and near tetraploid in five tumors. Loss of chromosomes was most frequently observed with chromosomes 2, 5, 18, 20, and Y, the most frequently gained chromosomes were 7, 8, 13, 15, and X. Structural aberrations affected all chromosomes, except Y. The most frequently rearranged bands were 5q21, 7p15, 9p21, 13q11, 16p12, 17p13, 18q21, 21q11. Anomalies of chromosomes 5, 17, and 18 occurred concomitantly in 9/20 patients. All patients with deletions of 17p (n = 6) had near tetraploid karyotypes with high cell to cell variability and a median of nine structural aberrations (p < 0.007); four of them presented with parenchymal metastases at the time of surgery. Tumors of the proximal part of colon were with one exception diploid or near diploid, but no specific pattern of aberrations was detectable. However, it appears noteworthy that of the six patients with tumors of the ascending colon, three tumors had deletions at 16p12 and the affected patients had a short duration of survival. The tumor karyotypes of patients with parenchymal metastases revealed a trend to greater complexity of numerical and structural aberrations. Changes involving 8p22 or loss of chromosomes 8 were found in tumors of all parts of the colon and potentially associated with an unfavorable prognosis (4/7 decreased patients showed such changes).

摘要

对26例可切除的结直肠癌患者的肿瘤组织进行了成功的细胞遗传学分析。其中9名女性和17名男性,年龄43至92岁,中位年龄67岁。20例患者发现克隆性异常;5例肿瘤主要表现为轻微的数量变化,如7号染色体三体和Y染色体缺失(2例)。其余15例肿瘤具有高度复杂的核型。6例(近端结肠的5/6肿瘤)的主干核型接近二倍体,4例接近三倍体,5例接近四倍体。染色体丢失最常发生在2号、5号、18号、20号和Y染色体,最常获得的染色体是7号、8号、13号、15号和X染色体。除Y染色体外,结构畸变影响所有染色体。最常发生重排的带是5q21、7p15、9p21、13q11、16p12、17p13、18q21、21q11。5号、17号和18号染色体异常在9/20的患者中同时出现。所有17p缺失的患者(n = 6)核型接近四倍体,细胞间变异性高,结构畸变中位数为9个(p < 0.007);其中4例在手术时出现实质转移。结肠近端部分的肿瘤除1例例外均为二倍体或接近二倍体,但未检测到特定的畸变模式。然而,值得注意的是,在6例升结肠癌患者中,3例肿瘤在16p12处有缺失,且受影响患者的生存期较短。有实质转移患者的肿瘤核型显示数量和结构畸变有更复杂的趋势。在结肠各部位的肿瘤中均发现涉及8p22的改变或8号染色体缺失,可能与不良预后相关(4/7病情进展患者有此类改变)。

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