Molecular Genetic Defects in Endometriosis

E J Thomas, Eric J. Thomas, Ian Campbell, I G Campbell
Gynecologic and obstetric investigation · 2000 · vol. 50(Suppl. 1) , pp. 44–50 · doi:10.1159/000052878 · PMID:11093061 · W2077410412
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This study identified loss of heterozygosity on chromosomes 9p, 11q, and 22q in 28% of endometriotic lesions and found common genetic alterations between endometriosis and ovarian endometrioid carcinoma.

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Abstract

In a series of studies, we have hypothesised that endometriotic proliferation is, in part, precipitated by mutations in oncogenes or deletions in tumor suppressor genes that have been shown to be important steps in the transformation from a benign to a malignant epithelium. We reported previously that we could find no mutations in the TP53 and RASK genes in cases of endometriosis. However, having shown that endometriotic deposits were monoclonal, we showed loss of heterozygosity on chromosomes 9p (18%), 11q (18%), and 22q (15%) - in total 28% of endometriotic lesions showed loss of heterozygosity at one or more sites [1]. We could not demonstrate any loss of heterozygosity in normal endometrium. We examined adjacent endometriosis, atypical endometriosis, and endometrioid carcinoma of the ovary and showed common genetic alterations that are consistent with a common lineage. These common alterations were not seen in lesions that were distant from each other [2]. In endometrioid tumors, we reported an increased frequency of mutations in the PTEN/MMAC tumor suppressor genes that was not seen in clear cell or serous carcinoma, suggesting distinct developmental pathways for these tumors [3].

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Carcinoma, Endometrioid Cell Transformation, Neoplastic Endometriosis Genes, Tumor Suppressor Loss of Heterozygosity Ovarian Neoplasms Carcinoma, Endometrioid Carcinoma, Endometrioid Cell Transformation, Neoplastic Cell Transformation, Neoplastic Endometriosis Endometriosis Female Genetic Diseases, Inborn Humans Loss of Heterozygosity Ovarian Neoplasms Ovarian Neoplasms Point Mutation Probability

Citation neighborhood

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References (9)

Cited by (50)

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