SAN FRANCISCO, CA USA (UroToday.com) - The Cancer Genome Atlas (TCGA) version of the clear cell renal cell (ccRCC) genome was published in June 2013, and Dr. Roeland Verhaak presented an update of the original iteration.
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This is a landmark contribution and the original manuscript had almost 350 authors and analyzed 400+ tumors. The data currently has almost 500 tumors, though. Mutations in chromatin modifiers PBRM1, BAP1, and SETD2 predominate in addition to well-known VHL mutations. These mutations all cluster on chromosome 3p, and, in fact, loss of one copy of 3p was present in > 90% of tumors with an epigenetic modifier mutation. Additionally, mutations in the AKT/PTEN/PI3K pathway are also common. Copy number variations (CNV) include 5q amplifications, which probably target SQSTM1, and this amplification seems to be exclusive of mutations in AKT/PTEN/PI3K, suggesting that the (druggable) AKT axis might be a fruitful target for drug development.
Dr. Verhaak highlighted the fact that ccRCC seems to be a different type of animal because of the lack of mutations in common cancer genes and relative lack of CNVs. A relatively unexplored area is the ccRCC metabalome, which Dr. Verhaak alluded to.
Highlights of a presentation by Roeland Verhaak, PhD at the 2014 Genitourinary Cancers Symposium - January 30 - February 1, 2014 - San Francisco Marriott Marquis - San Francisco, California USA
MD Anderson Cancer Center, Houston, TX USA