Silva-Smith Rachel, Sussman Daniel A
Division of Clinical and Translational Genetics, Department of Human Genetics, University of Miami, Leonard M. Miller School of Medicine, Miami, FL, USA.
Division of Gastroenterology, Department of Internal Medicine, University of Miami, Leonard M. Miller School of Medicine, 1120 NW 14th Street, Clinical Research Building 972 (D-49), Miami, FL, 33136, USA.
Fam Cancer. 2018 Jan;17(1):87-90. doi: 10.1007/s10689-017-0012-z.
Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. To our knowledge, this is the first report of an individual having these two hereditary colorectal cancer syndromes. This discovery highlights the benefit of multigene testing over traditional stepwise genetic testing, particularly when a clinical presentation suggests more than one underlying genetic cause. This report adds to the growing body of literature of individuals with multiple inherited cancer gene defects being identified thanks to the increasing implementation of multigene panels with next generation sequencing technologies.
通过种系多基因检测，我们在一名患有同步性膀胱癌和结直肠癌且有结直肠息肉家族史的年轻男性中，发现了由PMS2突变引起的林奇综合征与由BMPR1A突变引起的幼年性息肉病综合征同时存在。据我们所知，这是关于一个人同时患有这两种遗传性结直肠癌综合征的首次报告。这一发现凸显了多基因检测相对于传统逐步基因检测的优势，特别是当临床表现提示存在不止一种潜在遗传病因时。随着下一代测序技术的多基因检测越来越多地得到应用，越来越多携带多种遗传性癌症基因缺陷的个体被识别出来，本报告也为此增添了新的文献资料。
