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Less frequently mutated genes in colorectal cancer: evidences from next-generation sequencing of 653 routine cases

Umberto Malapelle¹, Pasquale Pisapia¹, Roberta Sgariglia¹

¹Department of Public Health, University of Naples Federico II, Naples, Italy.

Journal of Clinical Pathology

|January 23, 2016

Abstract

Aims:

The incidence of RAS/RAF/PI3KA and TP53 gene mutations in colorectal cancer (CRC) is well established. Less information, however, is available on other components of the CRC genomic landscape, which are potential CRC prognostic/predictive markers.

Methods:

Following a previous validation study, ion-semiconductor next-generation sequencing (NGS) was employed to process 653 routine CRC samples by a multiplex PCR targeting 91 hotspot regions in 22 CRC significant genes.

Results:

A total of 796 somatic mutations in 499 (76.4%) tumours were detected. Besides RAS/RAF/PI3KA and TP53, other 12 genes showed at least one mutation including FBXW7 (6%), PTEN (2.8%), SMAD4 (2.1%), EGFR (1.2%), CTNNB1 (1.1%), AKT1 (0.9%), STK11 (0.8%), ERBB2 (0.6%), ERBB4 (0.6%), ALK (0.2%), MAP2K1 (0.2%) and NOTCH1 (0.2%).

Conclusions:

In a routine diagnostic setting, NGS had the potential to generate robust and comprehensive genetic information also including less frequently mutated genes potentially relevant for prognostic assessments or for actionable treatments.

Keywords:

COLON MOLECULAR ONCOLOGY MOLECULAR PATHOLOGY

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