Department of Human Genetics, Emory University School of Medicine, 2165 North Decatur Road, Decatur, GA 30033, USA.
Fam Cancer. 2010 Dec;9(4):595-7. doi: 10.1007/s10689-010-9366-1.
We describe a patient with MUTYH-associated polyposis diagnosed with colon cancer at 33 years of age, as well as gastric polyps at a later age. She was also diagnosed with papillary thyroid cancer at age 35. MUTYH-associated polyposis is an autosomal recessively inherited disease which has clinical overlap with Familial adenomatous polyposis and its attenuated form, in that it is associated with risk of colon cancer at a young age. Extra-intestinal cancers have also been reported in patients with MUTYH-associated polyposis; however the tumor spectrum is still evolving. National Comprehensive Cancer Network guidelines recommend screening for colon, duodenal and gastric polyps in individuals with MUTYH-associated polyposis. Screening for extra-intestinal cancers i.e. thyroid cancer is presently not part of these recommendations. These will likely continue to evolve as the MUTYH-associated polyposis tumor spectrum is better understood as a result of future case reports and research.
我们描述了一位 MUTYH 相关性息肉病患者，她在 33 岁时被诊断患有结肠癌，后来又发现了胃息肉。她还在 35 岁时被诊断出患有甲状腺乳头状癌。MUTYH 相关性息肉病是一种常染色体隐性遗传疾病，其临床表现与家族性腺瘤性息肉病及其轻度形式重叠，即与年轻时患结肠癌的风险相关。MUTYH 相关性息肉病患者也有报道发生肠外癌症；然而，肿瘤谱仍在不断发展。美国国家综合癌症网络指南建议对 MUTYH 相关性息肉病患者进行结肠癌、十二指肠和胃息肉的筛查。目前，对肠外癌症（如甲状腺癌）的筛查不属于这些建议的一部分。随着未来病例报告和研究更好地了解 MUTYH 相关性息肉病的肿瘤谱，这些建议可能会继续演变。
