Clinical approach of hereditary cancer in gynecology / 대한산부인과학회지

Hereditary cancer syndrome is a genetic condition that causes and increases the risk for specific type of cancers. Recent advances in genetics have identified a number of genes associated with inherited susceptibility to cancer, and this rapid development of knowledge about cancer genetics have implications for all aspects of cancer management, including prevention, screening, and treatment. Hereditary patterns of cancer are often characterized by early age at onset, high penetrance, bilaterality in paired organs, vertical transmission through either parent, and an association with other types of tumors. Most representative hereditary cancer syndromes in gynecologic field are hereditary breast/ovarian cancer syndrome (HBOC), hereditary non-polyposis colorectal cancer (HNPCC), Li-Fraumeni syndrome, and Cowden syndrome. Several familial mutations of specific genes, such as BRCA1, 2, TP53, PTEN, MMR, CHEK2, are linked to hereditary cancer syndrome, which are responsible for hereditary gynecologic cancers. It would be very important for gynecologic doctors to know the inclusion criteria for the genetic assessment, taking family history, clinical evaluation, genetic testing, screening guideline and risk reduction strategies for women with hereditary high risk factor. The morbidity and mortality of gynecologic malignancies related to these syndromes could be reduced by the adequate clinical approach, although recent guidelines were developed with an acute awareness of the preliminary nature of much of our knowledge regarding the clinical application of the rapidly emerging field of molecular genetics, and with an appreciation for the need for flexibility when applying these guidelines to individual families.

Four Synchronous Colorectal Cancers and One Small Bowel Cancer in a Patient with HNPCC

The frequency of multiple synchronous carcinomas of the colon and rectum have varied in different reports from 3~4% to more than 10% of all tumors of the large bowel. Especially, the frequency is higher in hereditary non-polyposis colorectal cancer (HNPCC) patients. There are a few reported cases of five simultaneous cancers in a patient at the same time. We report here on a case of five synchronous cancers arising from the terminal ileum and colon in a patient with a strong familial tendency for colon cancer. The patient was a 43-year-old-female who presented with intermittent abdominal pain and diarrhea for one month. Colonoscopic examination revealed four adenocarcinomas at the proximal ascending, the proximal transverse, the distal descending and the sigmoid colon; the cancer in the sigmoid colon was at 30 cm above the anal verge. During the operation, another 3 cm sized ulcerative lesion was noted at the terminal ileum. Total colectomy, including the lesion of the terminal ileum, and ileorectal anastomosis were performed. Histologic evaluation revealed that all those lesions were adenocarcinomas invading the pericolic fat and three out of 126 lymph nodes were invaded by the cancer cells. It was a MSI-high cancer; 5 markers of MSI (BAT25, BAT26, D5S346, D17S250 and D2S123) were all unstable. We revealed a point mutation of the 67th base (GaT) of the 1st exon of hMLH1.

A Case of Endometrial Cancer with Hereditary Non-Polyposis Colorectal Cancer (HNPCC) / 대한산부인과학회지

Endometrial cancer is the most common malignant disorder that can be associated with hereditary non-polyposis colorectal cancer (HNPCC), which is known as Lynch II syndrome. HNPCC is a polyposis of the colon which is inherited in an autosomal dominant pattern and can cause cancer in other organs, especially in the endometrium. The overall risk of a women with HNPCC to develop endometrial cancer is 40-60%, much higher than the 3% of the general population of women. The average age of developing endometrial cancer of a women with HNPCC is 45 years of age and is often found before development of colon cancer. We have recently experienced a case of de novo type of hereditary non-polyposis colorectal cancer associated with endometrial cancer, hence we are reporting this case with a brief review of literatures.