TARGET Researchers Identify Mutations in SIX1/2 and microRNA Processing Genes in Favorable Histology Wilms Tumor

February 08, 2015

TARGET researchers molecularly characterized favorable histology Wilms tumor (FHWT), a pediatric renal cancer. Comprehensive genome and transcript analyses revealed single-nucleotide substitution/deletion mutations in microRNA processing genes (15% of FHWT patients) and Sine Oculis Homeobox Homolog 1/2 (SIX1/2) genes (7% of FHWT patients). SIX1/2 genes play a critical role in renal development and were not previously associated with FHWT, thus presenting a novel role for SIX1/2 pathway aberrations in this disease. Additionally, the researchers found that when patients have mutations in both pathways, their probability of relapse and death increases. For this study, the researchers examined a discovery cohort of 77 patients with FHWT that relapsed. They validated the results in a larger randomly selected cohort of 534 patients, all enrolled on the same study protocol, which provided the unique opportunity for researchers to estimate the unbiased population frequency of these gene alterations in a rare childhood cancer.

For further information about identified FHWT variants and their proposed effects on renal development and patient outcome, read the new Cancer Cell publication:

Last updated: June 28, 2020