Mutational landscape of MCPyV-positive and MCPyV-negative Merkel cell carcinomas with implications for immunotherapy.

@article{Goh2016MutationalLO,
  title={Mutational landscape of MCPyV-positive and MCPyV-negative Merkel cell carcinomas with implications for immunotherapy.},
  author={Gerald Goh and Trent Walradt and Vladimir Markarov and Astrid Blom and Nadeem Riaz and Ryan F Doumani and Krista Stafstrom and Ata S Moshiri and Lola Yelistratova and Jonathan L. Levinsohn and Timothy A. Chan and Paul Nghiem and Richard P. Lifton and Jaehyuk Choi},
  journal={Oncotarget},
  year={2016},
  volume={7 3},
  pages={3403-15}
}
Merkel cell carcinoma (MCC) is a rare but highly aggressive cutaneous neuroendocrine carcinoma, associated with the Merkel cell polyomavirus (MCPyV) in 80% of cases. To define the genetic basis of MCCs, we performed exome sequencing of 49 MCCs. We show that MCPyV-negative MCCs have a high mutation burden (median of 1121 somatic single nucleotide variants (SSNVs) per-exome with frequent mutations in RB1 and TP53 and additional damaging mutations in genes in the chromatin modification (ASXL1… CONTINUE READING