FGFR2 amplification in colorectal adenocarcinoma

Jamal H. Carter, Catherine E. Cottrell, Samantha N. McNulty, Katinka A. Vigh-Conrad, Stephen Lamp, Jonathan W. Heusel, Eric J. Duncavage

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

FGFR2 is recurrently amplified in 5% of gastric cancers and 1%-4% of breast cancers; however, this molecular alteration has never been reported in a primary colorectal cancer specimen. Preclinical studies indicate that several FGFR tyrosine-kinase inhibitors (TKIs), such as AZD4547, have in vitro activity against the FGFR2-amplified colorectal cell line, NCI-H716. The efficacy of these inhibitors is currently under investigation in clinical trials for breast and gastric cancer. Thus, better characterizing colorectal tumors for FGFR2 amplification could identify a subset of patients who may benefit from FGFR TKI therapies. Here, we describe a novel FGFR2 amplification identified by clinical next-generation sequencing in a primary colorectal cancer. Further characterization of the tumor by immunohistochemistry showed neuroendocrine differentiation, similar to the reported properties of the NCI-H716 cell line. These findings demonstrate that the spectrum of potentially clinically actionable mutations detected by targeted clinical sequencing panels is not limited to only single-nucleotide polymorphisms and insertions/deletions but also to copy-number alterations.

Original languageEnglish (US)
JournalCold Spring Harbor Molecular Case Studies
Volume3
Issue number6
DOIs
StatePublished - Nov 1 2017

Keywords

  • colon cancer
  • neoplasm of the gastrointestinal tract

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics
  • Genetics(clinical)

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    Carter, J. H., Cottrell, C. E., McNulty, S. N., Vigh-Conrad, K. A., Lamp, S., Heusel, J. W., & Duncavage, E. J. (2017). FGFR2 amplification in colorectal adenocarcinoma. Cold Spring Harbor Molecular Case Studies, 3(6). https://doi.org/10.1101/mcs.a001495