Yamasaki Yasushi, Matsushima Masashi, Tanaka Hisae, Tajiri Sakurako, Fukuda Ryuki, Ozawa Hideki, Takagi Atsushi, Hirabayashi Ken-ichi, Sadahiro Sohtaro
Department of Internal Medicine, Tokai University School of Medicine, Isehara.
Intern Med. 2010;49(3):209-13. doi: 10.2169/internalmedicine.49.2316. Epub 2010 Feb 1.
An 81-year-old woman presented with a chief complaint of swelling of both lower legs. She had a history of surgery for cancers of the stomach, rectum and colon. Among her immediate family members, her son had colon and rectal cancers, and her sister had ovarian cancer. After close examination the patient was diagnosed with small intestine cancer and ascending colon cancer. Gene mutation analyses did not reveal any mutations in DNA mismatch repair genes, but MSH-2 protein expression was lost only in the cancer lesions. Here, we report this rare case of eight metachronous gastrointestinal cancers thought to be HNPCC.
一位81岁女性因双下肢肿胀为主诉前来就诊。她有胃癌、直肠癌和结肠癌手术史。在她的直系亲属中，她的儿子患有结肠癌和直肠癌，她的姐姐患有卵巢癌。经过仔细检查，患者被诊断为小肠癌和升结肠癌。基因突变分析未发现DNA错配修复基因有任何突变，但仅在癌灶中MSH-2蛋白表达缺失。在此，我们报告这例罕见的八例异时性胃肠道癌病例，考虑为遗传性非息肉病性结直肠癌（HNPCC）。
