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[结直肠癌发生、基因改变的频率及意义:1号染色体短臂缺失与起始事件]

[Colorectal carcinogenesis, frequency and significance of genetic alterations: deletion of the short arm of chromosome 1, and initiating event].

作者信息

Couturier D, Couturier-Turpin M H

机构信息

Service d'Hépato-Gastro-Entérologie, Hôpital Cochin, Paris.

出版信息

Bull Acad Natl Med. 1997 Nov;181(8):1651-61; discussion 1661-2.

PMID:9554124
Abstract

Cytogenetic anomalies described in colo-rectal tumors are numerous. Despite the complexity and the number of the anomalies observed, a combined study of their frequency and of the stage of prognosis of the tumors suggests that the evolution from colonic adenoma to carcinoma often follows a sequence of events comprising a 5q15-22 deletion (DCC), and a 17p deletion (P53). It even seems likely that in many cases, these events are not constant and that others might lead to the same phenotypic transformation. Chromosome 1 involvement in structural rearrangements has been demonstrated in numerous forms of cancers, malignant blood disorders and in solid tumors. In colorectal adenocarcinoma anomalies have been described on short and/or long arms. In a case of adenoma with mild dysplasia a deletion of the distal part of the short arm of chromosome 1 was observed as an isolated cytogenetic anomaly, suggesting it would be an early, perhaps triggering, event for the tumour development. A cytogenetic study in a series of colo-rectal tumours, researches on loss of heterozygosity and microsatellite instability lead to consider deletions at chromosome 1p as an early event in human colorectal tumourigenesis.

摘要

结肠直肠肿瘤中描述的细胞遗传学异常众多。尽管观察到的异常情况复杂且数量众多,但对其频率和肿瘤预后阶段的综合研究表明,从结肠腺瘤发展到癌通常遵循一系列事件,包括5q15 - 22缺失(DCC)和17p缺失(P53)。甚至在许多情况下,这些事件并非固定不变,其他事件可能导致相同的表型转变。在多种癌症、恶性血液疾病和实体瘤中都已证实1号染色体参与结构重排。在结肠直肠腺癌中,短臂和/或长臂上均有异常描述。在一例轻度发育异常的腺瘤病例中,观察到1号染色体短臂远端部分缺失,这是一种孤立的细胞遗传学异常,表明它可能是肿瘤发展的早期事件,或许是触发事件。对一系列结肠直肠肿瘤的细胞遗传学研究、杂合性缺失研究以及微卫星不稳定性研究,使得人们将1p染色体缺失视为人类结肠直肠肿瘤发生的早期事件。

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