1. Successful whole-exome sequencing from a prostate cancer bone metastasis biopsy.
- Author
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Van Allen, E, Foye, A, Wagle, N, Kim, W, Carter, S, McKenna, A, Garraway, L, Febbo, P, and Simko, Jeffry
- Subjects
Biopsy ,Bone Neoplasms ,Exome ,Germ-Line Mutation ,High-Throughput Nucleotide Sequencing ,Humans ,Male ,Middle Aged ,Mutation ,Prostatic Neoplasms ,Prostatic Neoplasms ,Castration-Resistant ,Radiography - 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 will be required for the widespread application of prospective precision medicine to men with advanced PCa.
- Published
- 2014