Microsatellite analysis of endometriosis reveals loss of heterozygosity at candidate ovarian tumor suppressor gene loci.

X Jiang, Xiuxian Jiang, A Hitchcock, Andrew Hitchcock, Emma Jane Bryan, E J Bryan, R H Watson, Richard H. Watson, P Englefield, Eric J. Thomas, E J Thomas, Ian Campbell, I G Campbell
Cancer research · 1996 · vol. 56(15) , pp. 3534–9 · PMID:8758923 · W1611099852
article OA: closed CC0 ⤵ 117 in-corpus citations
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Abstract

Endometriosis is a very common gynecological condition in which tissue similar to endometrium proliferates at sites outside the uterine cavity, most commonly the ovary. Although it generally remains a benign condition, malignant transformation has been documented. and it is commonly found in association with endometrioid subtype ovarian cancer. Tumor suppressor genes are commonly altered in ovarian cancers, and the development of endometriosis may involve mutations in the same class of genes. We have investigated this possibility by examining DNA from 40 cases of endometriosis for clonal status, alterations in TP53 and RASK, and allelic losses at candidate ovarian tumor suppressor loci on chromosome arms 6q, 9p, l1q, 17p, l7q, and 22q. The majority of endometriotic cysts were monoclonal, but interestingly, 8 of 10 normal endometrial glands were also monoclonal, demonstrating that both are able to develop from a single progenitor cell. No mutations were detected in TP53 or RASK. Loss of heterozygosity (LOH) was detected on chromosomes 9p (18%), 1lq (18%), and 22q (15%). In total, 11 of 40 (28%) cases demonstrated LOH at one or more of these loci. This study, which is the first to report LOH in endometriosis, supports the notion that tumor suppressor gene inactivation may play a role in the development of at least a subset of cases.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

DNA, Neoplasm DNA, Satellite Endometriosis Gene Deletion Genes, Tumor Suppressor Ovarian Neoplasms Base Sequence Clone Cells DNA, Neoplasm DNA, Neoplasm DNA, Satellite DNA, Satellite Endometriosis Endometriosis Female Gene Expression Regulation, Neoplastic Genes, p53 Heterozygote Humans Microsatellite Repeats

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