Successful whole-exome sequencing from a prostate cancer bone metastasis biopsy.

ABSTRACT:

Background

Comprehensive molecular characterization of cancer that has metastasized to bone has proved challenging, which may limit the diagnostic and potential therapeutic opportunities for patients with bone-only metastatic disease.

Methods

We describe successful tissue acquisition, DNA extraction, and whole-exome sequencing from a bone metastasis of a patient with metastatic, castration-resistant prostate cancer (PCa).

Results

The resulting high-quality tumor sequencing identified plausibly actionable somatic genomic alterations that dysregulate the phosphoinostide 3-kinase pathway, as well as a theoretically actionable germline variant in the BRCA2 gene.

Conclusions

We demonstrate the feasibility of diagnostic bone metastases profiling and analysis that wil

SUBMITTER: Van Allen EM 

PROVIDER: S-EPMC4364998 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature