Document Detail

Molecular genetic defects in endometriosis.
MedLine Citation:
PMID:  11093061     Owner:  NLM     Status:  MEDLINE    
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].
E J Thomas; I G Campbell
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Gynecologic and obstetric investigation     Volume:  50 Suppl 1     ISSN:  0378-7346     ISO Abbreviation:  Gynecol. Obstet. Invest.     Publication Date:  2000  
Date Detail:
Created Date:  2001-01-17     Completed Date:  2001-01-17     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7900587     Medline TA:  Gynecol Obstet Invest     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  44-50     Citation Subset:  IM    
Department of Obstetrics and Gynaecology, University of Southampton, Princess Anne Hospital, Southampton, UK.
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MeSH Terms
Carcinoma, Endometrioid / genetics*,  pathology
Cell Transformation, Neoplastic / genetics*,  pathology
Endometriosis / genetics*,  pathology
Genes, Tumor Suppressor*
Genetic Diseases, Inborn
Loss of Heterozygosity / genetics*
Ovarian Neoplasms / genetics*,  pathology
Point Mutation

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