| Literature DB >> 25670082 |
Amy L Walz1, Ariadne Ooms2, Samantha Gadd3, Daniela S Gerhard4, Malcolm A Smith5, Jaime M Guidry Auvil, Jamie M Guidry Auvil4, Daoud Meerzaman6, Qing-Rong Chen6, Chih Hao Hsu6, Chunhua Yan6, Cu Nguyen6, Ying Hu6, Reanne Bowlby7, Denise Brooks7, Yussanne Ma7, Andrew J Mungall7, Richard A Moore7, Jacqueline Schein7, Marco A Marra8, Vicki Huff9, Jeffrey S Dome10, Yueh-Yun Chi11, Charles G Mullighan12, Jing Ma12, David A Wheeler13, Oliver A Hampton13, Nadereh Jafari14, Nicole Ross15, Julie M Gastier-Foster15, Elizabeth J Perlman16.
Abstract
We report the most common single-nucleotide substitution/deletion mutations in favorable histology Wilms tumors (FHWTs) to occur within SIX1/2 (7% of 534 tumors) and microRNA processing genes (miRNAPGs) DGCR8 and DROSHA (15% of 534 tumors). Comprehensive analysis of 77 FHWTs indicates that tumors with SIX1/2 and/or miRNAPG mutations show a pre-induction metanephric mesenchyme gene expression pattern and are significantly associated with both perilobar nephrogenic rests and 11p15 imprinting aberrations. Significantly decreased expression of mature Let-7a and the miR-200 family (responsible for mesenchymal-to-epithelial transition) in miRNAPG mutant tumors is associated with an undifferentiated blastemal histology. The combination of SIX and miRNAPG mutations in the same tumor is associated with evidence of RAS activation and a higher rate of relapse and death.Entities:
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Year: 2015 PMID： 25670082 PMCID： PMC4800737 DOI： 10.1016/j.ccell.2015.01.003
Source DB: PubMed Journal: Cancer Cell ISSN： 1535-6108 Impact factor: 31.743