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Pathological features of colorectal carcinomas in MYH‐associated polyposis
Author(s) -
O’Shea A M,
Cleary S P,
Croitoru M A,
Kim H,
Berk T,
Monga N,
Riddell R H,
Pollett A,
Gallinger S
Publication year - 2008
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/j.1365-2559.2008.03071.x
Subject(s) - mutyh , medicine , immunohistochemistry , colorectal cancer , pathological , pathology , carcinoma , mutation , cancer research , cancer , biology , germline mutation , gene , genetics
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.