Loss of heterozygosity on 10q23.3 and mutation of the tumor suppressor gene PTEN in benign endometrial cyst of the ovary: possible sequence progression from benign endometrial cyst to endometrioid carcinoma and clear cell carcinoma of the ovary.

N Sato, H Tsunoda, Hajime Tsunoda, M Nishida, Y Morishita, Y Takimoto, Yasuhiko Takimoto, T Kubo, Takeshi Kubo, M Noguchi, Michiya Noguchi
Cancer research · 2000 · vol. 60(24) , pp. 7052–6 · PMID:11156411 · W1830970830
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This study found loss of heterozygosity at 10q23.3 and PTEN mutations in benign endometrial cysts, suggesting PTEN inactivation is an early event in ovarian endometrioid and clear cell carcinoma development.

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Abstract

Loss of heterozygosity (LOH) at locus 10q23.3 and mutation of the PTEN tumor suppressor gene occur frequently in both endometrial carcinoma and ovarian endometrioid carcinoma. To investigate the potential role of the PTEN gene in the carcinogenesis of ovarian endometrioid carcinoma and its related subtype, clear cell carcinoma, we examined 20 ovarian endometrioid carcinomas, 24 clear cell carcinomas, and 34 solitary endometrial cysts of the ovary for LOH at 10q23.3 and point mutations within the entire coding region of the PTEN gene. LOH was found in 8 of 19 ovarian endometrioid carcinomas (42.1%), 6 of 22 clear cell carcinomas (27.3%), and 13 of 23 solitary endometrial cysts (56.5%). In 5 endometrioid carcinomas synchronous with endometriosis, 3 cases displayed LOH events common to both the carcinoma and the endometriosis, 1 displayed an LOH event in only the carcinoma, and 1 displayed no LOH events in either lesion. In 7 clear cell carcinomas synchronous with endometriosis, 3 displayed LOH events common to both the carcinoma and the endometriosis, 1 displayed an LOH event in only the carcinoma, and 3 displayed no LOH events in either lesion. In no cases were there LOH events in the endometriosis only. Somatic mutations in the PTEN gene were identified in 4 of 20 ovarian endometrioid carcinomas (20.0%), 2 of 24 clear cell carcinomas (8.3%), and 7 of 34 solitary endometrial cysts (20.6%). These results indicate that inactivation of the PTEN tumor suppressor gene is an early event in the development of ovarian endometrioid carcinoma and clear cell carcinoma of the ovary.

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Condition tags

endometriosis

MeSH descriptors

Adenocarcinoma, Clear Cell Carcinoma, Endometrioid Chromosomes, Human, Pair 10 Endometrial Neoplasms Loss of Heterozygosity Mutation Ovarian Neoplasms Phosphoric Monoester Hydrolases Tumor Suppressor Proteins Adenocarcinoma, Clear Cell Adenocarcinoma, Clear Cell Carcinoma, Endometrioid Carcinoma, Endometrioid Disease Progression Endometrial Neoplasms Endometrial Neoplasms Female Humans Lasers Microsatellite Repeats

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