Baylor College of Medicine
A genetic mutation associated with clear cell sarcoma of the kidney that has opened a new path of research and could point the way toward a new diagnostic test for the disease, said researchers from Texas Children’s Cancer and Hematology Center and Baylor College of Medicine in a study in Nature Communications.
The collaborative research team used a combination of whole exome sequencing and whole-transcriptome (RNA) sequencing to characterize the genomic landscape of this disease. They initially detected a mutation in the BCOR gene, which is involved in regulating cell differentiation through epigenetic mechanisms, in a single patient with clear cell sarcoma of the kindey. Further investigation then led to the discovery of recurrent duplication mutations within the gene in 85 percent of those with the disease, but not in other childhood kidney tumors, such as Wilms tumors.