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Hum Pathol. 2019 May 2. pii: S0046-8177(19)30078-4. doi: 10.1016/j.humpath.2019.04.013. [Epub ahead of print]

Targeted mutational analysis of inflammatory bowel disease-associated colorectal cancers.

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Department of Pathology, University of Chicago, , Chicago, IL 60637, USA. Electronic address:
Department of Pathology, University of Chicago, , Chicago, IL 60637, USA.
Department of Medicine, University of Chicago, Chicago, IL 60637, USA.


Inflammatory bowel disease-associated colorectal carcinomas (IBD-CRCs) develop in a background of chronic inflammation, and thus the molecular landscape of these tumors likely differs from that of sporadic colorectal cancer. To add to emerging data on molecular alterations present in these tumors, we analyzed our institution's cohort of IBD-CRCs. Colorectal carcinomas (CRCs) resected from patients with inflammatory bowel disease underwent molecular analysis via a 50-gene hot-spot solid tumor panel (OncoScreen ST2.0). In-house sporadic CRCs and The Cancer Genome Atlas (TCGA) project data were used for comparison. Fifty-five IBD-CRCs from 48 patients were successfully analyzed. Mutations in TP53 were most common and were present in 69% of IBD-CRCs; a similar percentage of TP53 mutations were detected in sporadic colorectal carcinomas (70%). APC and KRAS mutations were significantly less common in IBD-CRCs than in sporadic CRCs (15% vs. 53%, P<.001 and 20% vs. 38%, P=.02, respectively). Additionally, the potentially targetable IDH1 R132 mutation was present in 7% of IBD-CRCs but only 1% of sporadic CRCs and TCGA CRCs; alterations in other genes with potential targeted therapies were very rare. In conclusion, IBD-CRCs exhibit molecular differences when compared to sporadic CRCs, suggesting different pathways of carcinogenesis, though certain alterations are common to both types of tumors. IDH1 mutations are present in a subset of IBD-CRCs, which may expand therapeutic options in the future.


Colorectal Cancer; Crohn's Disease; Inflammatory Bowel Disease; Molecular Analysis; Ulcerative Colitis

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