We conducted a population-based study to determine the contribution of germline mutations in known candidate genes to ovarian cancer diagnosed at age <30 years. Women with epithelial ovarian cancer were identified through cancer registries. DNA samples were analyzed for mutations in BRCA1, the "ovarian cancer-cluster region" (nucleotides 3139-7069) of BRCA2, and the mismatch-repair genes hMSH2 and hMLH1. Probable germline mutations in hMLH1 were identified in 2 (2%; 95% confidence interval 1%-8%) of 101 women with invasive ovarian cancer diagnosed at age <30 years. No germline mutations were identified in any of the other genes analyzed. There were no striking pedigrees suggestive of families with either breast/ovarian cancer or hereditary nonpolyposis colorectal cancer (HNPCC). There was a significantly increased incidence of all cancers in first-degree relatives of women with invasive disease (relative risk [RR] = 1.6, P=.01) but not in second-degree relatives or in relatives of women with borderline cases. First-degree relatives of women with invasive disease had increased risks of ovarian cancer (RR = 4.8, P=.03), myeloma (RR = 10, P=.01), and non-Hodgkin lymphoma (RR = 7, P=.004). Germline mutations in BRCA1, BRCA2, msh2, and mlh1 contribute to only a minority of cases of early-onset epithelial ovarian cancer. Our data suggest that early-onset ovarian cancer is not associated with a greatly increased risk of cancer in close relatives.
A 78-year-old retired woman was diagnosed with metaplastic breast carcinoma (MBC), a rare tumor, in our hospital. We reviewed 15 articles with a total of 1328 patients to determine the epidemiology, clinical features, biomarkers, histology, management and outcome of patients with this tumor. The mean age at presentation is 58.5 years (range 32-83). Eighty-one percent of patients presented either with a breast mass or abnormal mammographic finding. Twenty-three percent of patients had a family history of breast cancer. Estrogen receptors were only found in 12%, progesterone receptors in 10% and HER2 in 6% of patients. The main method of treatment was mastectomy (66.9%) in combination with chemotherapy (57%) and radiotherapy (47%). Five-year disease-free survival ranged between 40% and 84% and 5-year overall survival ranged between 64 and 83%. We have further reviewed the nature of this disease in the light of advancement in genetics, such as microarray gene expression profiling. The relationship of MBC with triple-negative tumor and basal-like tumor is discussed. It is hoped that advances in genetics and biomarkers will bring forward the era of personalized medicine in the treatment of breast carcinoma.
The simultaneous occurrence of these two major illnesses in the breast can lead to many problems regarding diagnosis and treatment. Though rare, surgeons, pathologists and radiologists should be aware of such condition.
Biphasic differentiation of pancreatic stem cell during embryological development could happen and may result in combined endocrine and exocrine tumours of the pancreas. Imaging studies are excellent in diagnosing theses lesions. Surgery has a central role and could be curative.
Mesotheliomas usually arise from the pleura and are malignant. We report an unusual case of benign peritoneal mesothelioma presenting in a 59-year-old woman. The disease resulted in bilateral hydronephrosis, colovesical fistula formation, recurrent small bowel obstruction and chronic abdominal pain. To date only a handful of cases have been reported and to the best of our knowledge, none has been so aggressive.
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