Punctuated evolution of canonical genomic aberrations in uveal melanoma

• DOI: 10.1038/s41467-017-02428-w
• Publication Date: 2018-01-03T17:00:11Z
• Authors: Matthew G. Field; Michael A. Durante; Hima Anbunathan; Louis Z. Cai; Christina L. Decatur; Anne M. Bowcock; Stefan Kurtenbach; J. William Harbour
• Keywords: BAP1; Primary tumor

Cancer is thought to arise through the accumulation of genomic aberrations evolving under Darwinian selection. However, it remains unclear when associated with metastasis emerge during tumor evolution. Uveal melanoma (UM) most common primary eye cancer and frequently leads metastatic death, which strongly linked BAP1 mutations. Accordingly, UM ideally suited for studying clonal evolution competence. Here we analyze sequencing data from 151 samples using a customized bioinformatic pipeline, improve detection mutations infer relationships among aberrations. Strikingly, find other canonical usually in an early punctuated burst, followed by neutral extending time clinical detection. This implies that proclivity "set stone" may explain why advances treatment have not improved survival.