Successful whole-exome sequencing from a prostate cancer bone metastasis biopsy
Van Allen EM1, Foye A2, Wagle N1, Kim W2, Carter SL3, McKenna A4, Simko JP5, Garraway LA1, Febbo PG6. Prostate Cancer Prostatic Dis. 2013 Dec 24. doi: 10.1038/pcan.2013.37. [Epub ahead of print]

Author information

11] Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA [2] Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA. 2Department of Medicine, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA. 3Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA. 41] Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA [2] Department of Genome Sciences, University of Washington, Seattle, WA, USA. 51] Department of Urology, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA [2] Department of Pathology, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA [3] Department of Radiation Oncology, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA. 61] Department of Medicine, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA [2] Department of Urology, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA.

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.