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对来自四个睾丸生殖细胞肿瘤的平行短期培养物进行染色体分析。

Chromosome analysis of parallel short-term cultures from four testicular germ-cell tumors.

作者信息

Parrington J M, West L F, Heyderman E

机构信息

MRC Human Biochemical Genetics Unit, U.K.

出版信息

Cancer Genet Cytogenet. 1994 Jul 15;75(2):90-102. doi: 10.1016/0165-4608(94)90158-9.

DOI:10.1016/0165-4608(94)90158-9
PMID:8055486
Abstract

Cytogenetic analysis has been carried out on 17 parallel short-term cultures from four malignant testicular teratomas of intermediate differentiation (MTI), two of them combined with seminomas. Clonal development was seen in three tumors, with most of the variation involving different rearrangements of chromosome 1. Two copies of the i(12p), characteristic of testicular germ-cell tumors, were present in the two tumors with yolk sac elements, a single i(12p) and a 12q- were found in an MTI that had metastasized, and a rearrangement of chromosome 12 containing centromeric chromatin from chromosome 18 was found instead of the i(12p) in a mixed tumor. A 13p+ marker containing Q-negative material was seen in two of the tumors, with a der(7)t(Y;7) in one. Chromosomes 1, 3, 6, 7, 8, 12, 17, and X were invariably overrepresented either as complete or partial trisomies, and chromosomes 4, 5, 13, and 18 were underrepresented in all four tumors, strengthening the idea that tumor suppressor genes on the latter four chromosomes, all of which show some loss of heterozygosity with DNA markers, may be important in tumor progression.

摘要

对来自4例中分化恶性睾丸畸胎瘤(MTI)的17个平行短期培养物进行了细胞遗传学分析,其中2例合并精原细胞瘤。在3个肿瘤中观察到克隆性发展,大多数变异涉及1号染色体的不同重排。在2个有卵黄囊成分的肿瘤中存在2份睾丸生殖细胞肿瘤特有的i(12p),在1例发生转移的MTI中发现1份i(12p)和1个12q-,在1例混合性肿瘤中发现12号染色体重排,其中包含来自18号染色体的着丝粒染色质,而不是i(12p)。在2个肿瘤中观察到1个含有Q阴性物质的13p+标记,其中1个有der(7)t(Y;7)。1、3、6、7、8、12、17号染色体和X染色体总是以完整或部分三体的形式过度表达,而4、5、13和18号染色体在所有4个肿瘤中均表达不足,这强化了以下观点,即后4条染色体上的肿瘤抑制基因可能在肿瘤进展中起重要作用,所有这些基因在DNA标记上均显示出一定程度的杂合性缺失。

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