Ajith Kumar Vadakke Kanakath, Gold June Anne, Mallon Eleanor, Thomas Shyamala, Hodgson Shirley V
North East Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK.
Fam Cancer. 2008;7(2):187-9. doi: 10.1007/s10689-007-9161-9. Epub 2007 Sep 15.
MYH associated polyposis is an autosomal recessive polyposis syndrome with a high risk of large bowel cancer, caused by mutations in the DNA repair gene MYH. Founder mutations have been described in different ethnic groups. Muir Torre Syndrome is the association of internal malignancies with sebaceous gland tumours; Lynch Syndrome/Hereditary Non Polyposis Cancer is the best known cause. There has been a previous report of sebaceous gland tumours in an Italian patient with MYH associated polyposis. We describe a man of Indian (Gujarati) descent who has MYH associated polyposis and multiple sebaceous adenomas of the skin.
MYH相关息肉病是一种常染色体隐性息肉病综合征，因DNA修复基因MYH突变导致患大肠癌风险很高。不同种族群体中已发现有奠基者突变。穆尔-托里综合征是内脏恶性肿瘤与皮脂腺肿瘤的关联；林奇综合征/遗传性非息肉病性结直肠癌是最广为人知的病因。此前曾有报告一名患MYH相关息肉病的意大利患者出现皮脂腺肿瘤。我们描述了一名祖籍印度（古吉拉特族）的男子，他患有MYH相关息肉病及多处皮肤皮脂腺腺瘤。
