Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis

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• 作者：Anne M.L. Jansen¹ ; ² ; Stijn Crobach¹ ; Willemina R.R. Geurts-Giele³ ; Brendy E.W.M. van den Akker¹ ; Marina Ventayol Garcia¹ ; Dina Ruano¹ ; Maartje Nielsen⁴ ; Carli M.J. Tops⁴ ; Juul T. Wijnen² ; ⁴ ; Frederik J. Hes⁴ ; Tom van Wezel¹ ; Winand N.M. Dinjens³ ; Hans Morreau¹ ; ^{j.morreau@lumc.nl}
• 关键词：unexplained polyposis ; mutation ; Wnt signaling ; colorectal carcinogenesis
• 刊名：Gastroenterology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：152
• 期：3
• 页码：546-549.e3
• 全文大小：517 K
• 卷排序：152

文摘

We investigated the presence and patterns of mosaicism in the APC gene in patients with colon neoplasms not associated with any other genetic variants; we performed deep sequence analysis of APC in at least 2 adenomas or carcinomas per patient. We identified mosaic variants in APC in adenomas from 9 of the 18 patients with 21 to approximately 100 adenomas. Mosaic variants of APC were variably detected in leukocyte DNA and/or non-neoplastic intestinal mucosa of these patients. In a comprehensive sequence analysis of 1 patient, we found no evidence for mosaicism in APC in non-neoplastic intestinal mucosa. One patient was found to carry a mosaic c.4666dupA APC variant in only 10 of 16 adenomas, indicating the importance of screening 2 or more adenomas for genetic variants.