Results
| PMID | 24018808 |
| Gene Name | PMS2 |
| Condition | Endometriosis |
| Association |
Associated |
| Population size | 67 |
| Population details | 67 ovarian endometrioid adenocarcinoma(35 associated with endometriosis, 32 without endometriosis) |
| Sex | Female |
| Infertility type | Female infertility |
| Associated genes | ?-catenin, cyclin D1, BAF250a, PTEN, p53, WT1 |
| Other associated phenotypes |
Endometriosis |
|
Pathology. 2013 Oct;45(6):559-66. doi: 10.1097/PAT.0b013e3283650ad7. Stewart, Colin J R| Walsh, Michael D| Budgeon, Charley A| Crook, Maxine L| Buchanan, Daniel B *Department of Pathology, King Edward Memorial Hospital, Perth daggerSchool of Women's and Infants' Health double daggerCentre for Applied Statistics, University of Western Australia section signDepartment of Research, Sir Charles Gairdner Hospital, Pe AIMS: The relationship between endometriosis and ovarian endometrioid adenocarcinoma (OEC) is well recognised but it is unclear whether endometriosis positive and negative OECs develop via similar pathogenetic mechanisms. MATERIALS: Sixty-seven low grade OECs (35 associated with endometriosis) were stained immunohistochemically for beta-catenin, cyclin D1, BAF250a, PTEN, p53, WT1 and the mismatch repair (MMR) proteins MLH1, PMS2, MSH2 and MSH6. The results were correlated with KRAS mutation analysis and the presence of concurrent endometriosis. RESULTS: Abnormal beta-catenin, cyclin D1, BAF250a, PTEN, p53 and MMR protein expression was identified in 61.2%, 50.7%, 19.4%, 23.9%, 9.0%, and 6.0% of cases, respectively; these changes were equally common in endometriosis positive and negative tumours. WT1 expression was restricted to endometriosis negative EOC (8/32, 25%) and four WT1 positive cases showed sertoliform/spindle cell histological patterns. Abnormal beta-catenin expression correlated with cyclin D1 overexpression but was inversely related to KRAS mutation. Immunophenotypic abnormalities were present in four of 17 histologically benign endometriotic lesions. CONCLUSIONS: Most immunophenotypic alterations were equally common in endometriosis associated and independent OECs but only the latter were associated with abnormal WT1 expression. The inverse relationship between abnormal beta-catenin expression and KRAS mutation merits further study. Histologically benign endometriotic epithelium may show immunophenotypic abnormalities similar to those present in associated carcinomas. Mesh Terms: Adult| Aged| Aged, 80 and over| Biomarkers, Tumor/analysis| Carcinoma, Endometrioid/*complications/genetics/*metabolism| Endometriosis/*complications/genetics/metabolism| Female| Humans| Immunohistochemistry| Immunophenotyping| Middle Aged| *Mu |
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