Abstract
Some cases of endometrial cancer are associated with a familial tumor and are referred to as hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Such tumors are thought to be induced by germline mutation of the DNA mismatch repair (MMR) gene, but many aspects of the pathology of familial endometrial cancer are unclear and no effective screening method has been established. However, the pathology of endometrial cancer with familial tumor has been progressively clarified in recent studies. At present, about 0.5% of all cases of endometrial cancers meet the clinical diagnostic criteria for HNPCC. A recent analysis of the three MMR genes (hMLH1, hMSH2 and hMSH6) revealed germline mutations in 18 of 120 cases (15.0%) of endometrial cancer with familial accumulation of cancer or double cancer, with a frameshift mutation of the hMSH6 gene being the most common. Many cases with mutation did not meet the current clinical diagnostic criteria for HNPCC, indicating that familial endometrial cancer is often not diagnosed as HNPCC. The results suggest that the hMSH6 gene mutation may be important in carcinogenesis in endometrial cancer and germline mutations of the MMR gene may be more prevalent in cases associated with familial accumulation of cancer. An international large-scale muticenter study is required to obtain further information about the pathology of endometrial cancer as a familial tumor.
Highlights
The incidence of endometrial cancer among malignant gynecological tumors has increased with lifestyle and environmental changes, and has reached almost half of all cases of uterine cancer in Western countries
A high incidence of concomitant endometrial cancer has been shown in female patients with hereditary nonpolyposis colorectal cancer (HNPCC), a typical familial tumor that is inherited in an autosomal dominant manner, indicating the presence of HNPCC-associated familial endometrial cancer
Many HNPCC-associated cases of endometrial cancer caused by mismatch repair (MMR) gene aberration do not meet the current clinical diagnostic criteria for HNPCC
Summary
The incidence of endometrial cancer among malignant gynecological tumors has increased with lifestyle and environmental changes, and has reached almost half of all cases of uterine cancer in Western countries. Many aspects of the mechanism of carcinogenesis and pattern of advancement are unclear Environmental factors such as obesity and a high estrogen level are thought to play important carcinogenic roles, but a close association with hereditary disposition has been suggested, since double cancer and an increased incidence of cancer in relatives are common in patients with endometrial cancer. HNPCC has a high risk of development of colorectal cancer, and accumulation of colorectal cancer in a family line was initially reported by Wartin et al in 1913. The confusion caused by the different criteria was resolved by revision of the Amsterdam Criteria by the ICG-HNPCC in 1999, to give the new Amsterdam Criteria [4] (Table 1) These criteria address endometrial cancer, small intestinal cancer, urethral cancer, and kidney cancer, in addition to the colorectal cancer included in the classic criteria. One concern with the new criteria is the omission of ovarian, breast and stomach cancer, which may be associated with HNPCC
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