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    ABSTRACT: To determine the validity of observations suggesting a significant dichotomy of gynecologic cancers determined by linkage to specific genetic defects associated with two major autosomal dominant hereditary cancer syndromes; the Creighton University Hereditary Cancer Registry was searched for female carriers of germ line mutations in BRCA1 and BRCA2, associated with the Hereditary Breast Ovarian Cancer syndrome, and in the mismatch repair (MMR) genes MLH1, MSH2 and MSH6, associated with Lynch syndrome, who were registered with invasive uterine, ovarian, fallopian tube or peritoneal cancers between January 1, 1959 and December 31, 2010. From 217 such cases, a total of 174 subjects, consisting of 95 BRCA1 and BRCA2 mutation carriers and 79 carriers of mutations in MMR genes, were identified who had current signed Health Insurance Portability and Accountability Act forms and complete primary diagnostic pathology reports and clinical records. Data meticulously extracted from these cases were categorized and statistically analyzed. There were highly significant differences between carriers of BRCA1 and BRCA2 mutations and carriers of MMR gene mutations in the proportion of serous carcinomas compared with endometrioid carcinomas of the uterus, including cervix and endometium (p < 0.002), ovaries (p < 0.001) and overall, including fallopian tube and peritoneum cancers (p < 0.001). Endometrioid carcinoma was found in one and transitional carcinoma in another of the 14 BRCA1 mutation carriers with fallopian tube cancer, and endometrioid carcinoma was found in two of four MMR gene mutation carriers with fallopian tube cancers. All other fallopian tube cancers were serous carcinomas. Seven BRCA1 and one BRCA2 mutation carriers were diagnosed with primary peritoneal serous carcinoma; no peritoneal carcinomas were registered in MMR gene mutation carriers. Nine of 14 gynecologic cancers with associated endometriosis in mutation carriers were endometrioid or endometrioid mixed carcinomas compared with just three of other histologic types. Primary breast cancers, that characterize the HBOC syndrome, were much more frequent in BRCA1 and BRCA2 mutation carriers; while multiple gynecologic cancers and associated colorectal and urinary tract cancers, which are features of Lynch syndrome, were more common in MMR gene mutation carriers. Both serous and endometrioid carcinomas were diagnosed in MMR gene mutation carriers at significantly younger ages than in BRCA1 and BRCA2 mutation carriers (p < 0.0006). These findings confirm a clear dichotomy of uterine, ovarian and fallopian tube cancers associated with inheritance of mutations in BRCA1 and BRCA2 contrasted with inheritance of MMR gene mutations. This opens possibilities for new approaches to molecular genetic research into carcinogenic pathways and raises important new considerations regarding counseling, screening, prophylaxis and treatment of mutation carriers.
    Familial Cancer 05/2013; · 1.94 Impact Factor
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    ABSTRACT: Primary fallopian tube carcinoma (PFTC) is a rare gynaecological tumour that accounts for 0.14-1.8% of genital malignancies. The most common age of occurrence is between 40 and 65 years, and the mean age is 55 years. The factors that contribute to its appearance are not well known. Population studies show that the mean incidence of PFTC is 3.6 per million women per annum. Overall survival percentages for patients with PFTC are generally low, in the range of 22-57%. Pre-operative diagnosis is rare and PFTC is usually confirmed by a pathologist, but earlier diagnosis with early clinical manifestation and prompt investigation improves the prognosis. Both PFTC and epithelial ovarian cancer (EOC) are treated with similar surgical and chemotherapy methods. Studies have shown that the prognosis for PFTC is worse than that for EOC or other primary gynaecological tumours. This article reviews and presents the current updates of this rare gynaecological malignancy.
    European journal of obstetrics, gynecology, and reproductive biology 04/2013; · 1.97 Impact Factor
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    ABSTRACT: To analyze the clinicopathologic features of women with primary fallopian tube carcinoma Descriptive cross sectional study Twenty-eight women diagnosed with primary fallopian tube carcinoma treated at Chiang Mai University Hospital between January 1997 and December 2004. During the study period, the primary fallopian tube carcinoma accounted for 0.48% of all gynecologic malignancies. Of the 28 patients, one was excluded for unavailable medical records. Mean age at diagnosis was 53 years (range, 38-76 years). Seventeen (63.0%) were menopausal women. The most common clinical presentation was pelvic mass (55%), followed by abnormal vaginal bleeding (18.5%). Hydrops tubae profluens was present in three (11.1%) women. The rare presenting symptoms included pelvic peritonitis and abnormal glandular cells on cervicovaginal smear were noted in one (3.7%) woman of each category. In all women, primary fallopian tube carcinoma could not be diagnosed preoperatively. During the operation, an abnormal tubal lesion was suspected in only eleven (40.7%) women. Histology were serous adenocarcinoma (70.4%), endometrioid adenocarcinoma (22.2%), undifferentiated adenocarcinoma (3.77%) and carcinosarcoma (3.7%). As opposed to epithelial ovarian cancer, the majority of women in the present study were in the early stages of the disease. Primary fallopian tube carcinoma is a rare gynecologic malignancy that has various and nonspecific presentations. Definite diagnosis is usually made postoperatively. This malignancy should be considered in differential diagnosis of peri- and postmenopausal women who present with complex adnexal mass, unexplained uterine bleeding, abnormal glandular cells on cervicovaginal smear and complicated pelvic inflammatory disease.
    Journal of the Medical Association of Thailand = Chotmaihet thangphaet 11/2005; 88(10):1338-43.