Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma

Jared J. Gartner, Sean Davis, Xiaomu Wei, Jimmy C. Lin, Niraj S. Trivedi, Jamie K. Teer, Paul S. Meltzer, Steven A. Rosenberg, Yardena Samuels

Research output: Contribution to journalArticle

Abstract

Background: Metastasis is characterized by spreading of neoplastic cells to an organ other than where they originated and is the predominant cause of death among cancer patients. This holds true for melanoma, whose incidence is increasing more rapidly than any other cancer and once disseminated has few therapeutic options. Here we performed whole exome sequencing of two sets of matched normal and metastatic tumor DNAs.Results: Using stringent criteria, we evaluated the similarities and differences between the lesions. We find that in both cases, 96% of the single nucleotide variants are shared between the two metastases indicating that clonal populations gave rise to the distant metastases. Analysis of copy number variation patterns of both metastatic sets revealed a trend similar to that seen with our single nucleotide variants. Analysis of pathway enrichment on tumor sets shows commonly mutated pathways enriched between individual sets of metastases and all metastases combined.Conclusions: These data provide a proof-of-concept suggesting that individual metastases may have sufficient similarity for successful targeting of driver mutations.

Original languageEnglish (US)
Article number505
JournalBMC genomics
Volume13
Issue number1
DOIs
StatePublished - Sep 24 2012

ASJC Scopus subject areas

  • Biotechnology
  • Genetics

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    Gartner, J. J., Davis, S., Wei, X., Lin, J. C., Trivedi, N. S., Teer, J. K., Meltzer, P. S., Rosenberg, S. A., & Samuels, Y. (2012). Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma. BMC genomics, 13(1), [505]. https://doi.org/10.1186/1471-2164-13-505