Pathological features of colorectal carcinomas in MYH-associated polyposis |
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Authors: | O'Shea A M Cleary S P Croitoru M A Kim H Berk T Monga N Riddell R H Pollett A Gallinger S |
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Affiliation: | Department of Pathology and Laboratory Medicine, Mount Sinai Hospital;, Ontario Familial Colorectal Cancer Registry, Cancer Care Ontario;, Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital;, and The Familial Gastrointestinal Cancer Registry, Mount Sinai Hospital, Toronto, ON, Canada |
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Abstract: | Aims: MYH is a DNA glycosylase in the base excision repair pathway. Germ-line biallelic mutations in the MYH gene are associated with the development of multiple colorectal adenomas and colorectal carcinoma (CRC). A slightly increased risk of CRC is suggested in monoallelic MYH mutation carriers. The aim was to characterize the histopathological features of carcinomas from biallelics and monoallelics. Methods and results: Clinicopathological features of 57 colorectal carcinomas from 50 patients identified in familial CRC registries were recorded. These included 16 cancers from 14 MYH biallelics; 25 cancers from 22 MYH monoallelics; and 16 cancers from 14 controls. Carcinomas in biallelics demonstrated tubular, papillary or cribriform patterns as the predominant histological subtype, and main histological groups differed according to mutation status ( P = 0.0053). All biallelic cancers were low grade, with high-grade tumours more common in monoallelics and controls ( P = 0.002). Synchronous polyps were observed in 75% of biallelics, 33% of monoallelics and 43% of controls ( P = 0.035). Serrated carcinoma was the predominant type in 12% (3/25) of the monoallelics but in none of the biallelics or controls. MYH immunohistochemistry failed to distinguish between groups. Conclusions: Neither pathological features nor immunohistochemistry could predict the MYH mutation status of CRCs in this study. |
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Keywords: | colorectal cancer pathology polyps mutYh MYH |
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