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Curr Oncol. 2016 Dec;23(6):e571-e575. doi: 10.3747/co.23.3165. Epub 2016 Dec 21.

Personalized oncogenomics in the management of gastrointestinal carcinomas-early experiences from a pilot study.

Author information

1
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC.
2
Royal Victoria Regional Health Centre, Department of Pathology and Laboratory Medicine, Barrie, ON.
3
Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC.
4
Division of Medical Oncology, BC Cancer Agency, Vancouver, BC.
5
Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC.; Department of Medical Genetics, University of British Columbia, Vancouver, BC.

Abstract

BACKGROUND:

Gastrointestinal carcinomas are genomically complex cancers that are lethal in the metastatic setting. Whole-genome and transcriptome sequencing allow for the simultaneous characterization of multiple oncogenic pathways.

METHODS:

We report 3 cases of metastatic gastrointestinal carcinoma in patients enrolled in the Personalized Onco-Genomics program at the BC Cancer Agency. Real-time genomic profiling was combined with clinical expertise to diagnose a carcinoma of unknown primary, to explore treatment response to bevacizumab in a colorectal cancer, and to characterize an appendiceal adenocarcinoma.

RESULTS:

In the first case, genomic profiling revealed an IDH1 somatic mutation, supporting the diagnosis of cholangiocarcinoma in a malignancy of unknown origin, and further guided therapy by identifying epidermal growth factor receptor amplification. In the second case, a BRAF V600E mutation and wild-type KRAS profile justified the use of targeted therapies to treat a colonic adenocarcinoma. The third case was an appendiceal adenocarcinoma defined by a p53 inactivation; Ras/raf/mek, Akt/mtor, Wnt, and notch pathway activation; and overexpression of ret, erbb2 (her2), erbb3, met, and cell cycle regulators.

SUMMARY:

We show that whole-genome and transcriptome sequencing can be achieved within clinically effective timelines, yielding clinically useful and actionable information.

KEYWORDS:

Oncogenomics; appendiceal adenocarcinoma; bevacizumab; cholangiocarcinoma; colonic adenocarcinoma; genomics; personalized medicine; targeted therapy

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