Lee Jee Yeon, Kim Hyun Joo, Lee Eun Hee, Lee Hyoun Wook, Kim Jong-Won, Kim Min Kyu
Department of Obstetrics and Gynecology, Samsung Medical Center, Seoul, Korea.
Department of Pathology, Samsung Changwon Hospital, Changwon, Korea.
Obstet Gynecol Sci. 2013 Nov;56(6):408-11. doi: 10.5468/ogs.2013.56.6.408. Epub 2013 Nov 15.
We have recently experienced an endometrial cancer 12 years after the diagnosis of colon cancer with Lynch syndrome. A 49-year-old Korean woman had a family history of colon cancer. Her mother had colon cancer at 56-year-old, and her brother had colon cancer at 48 years old. The patient received surgery for endometrial cancer at the same hospital 12 years after being treated for colon cancer. Immunohistochemistry showed that her endometrial tissue stained negative for MSH2. A microsatellite instability test was performed and showed the presence of instability high microsatellite instability. An hMLH2 gene mutation was detected at codon 629 codon of exon 12, in which a glutamine was replaced with an arginine (1886A>G [p.Gln629Arg]). To our knowledge, this is the first case of metachronous cancer in a Lynch syndrome family in Korea with a gap of more than ten years between cancer diagnoses.
我们最近遇到了一例在诊断为林奇综合征的结肠癌12年后发生子宫内膜癌的病例。一名49岁的韩国女性有结肠癌家族史。她的母亲56岁时患结肠癌,她的哥哥48岁时患结肠癌。该患者在接受结肠癌治疗12年后,于同一家医院接受了子宫内膜癌手术。免疫组织化学显示,她的子宫内膜组织MSH2染色呈阴性。进行了微卫星不稳定性检测,结果显示存在高度微卫星不稳定性。在外显子12的第629密码子处检测到hMLH2基因突变,其中谷氨酰胺被精氨酸取代(1886A>G [p.Gln629Arg])。据我们所知,这是韩国林奇综合征家族中首例异时性癌症病例,两次癌症诊断间隔超过十年。