Fusion genes found for the first time in pediatric RCC and discovery of a new germline FH mutation
(A) A complex gene fusion involving 3 different genes: TFE3, ASPSCR1, and SNX8 in RCC751.
(B) Discovery of gene fusion CRK-PITPNA in papillary pediatric RCC (RCC1176), associated with the second highest CRK expression across all pRCC.
(C) Germline structural variant within the FH gene (RCC380): duplication and intrachromosomal fusion of exon 1-7 with exon 2-10 and “second hit” copy-neutral LOH of the wild-type FH allele resulting in the lowest FH gene expression compared with all other pRCCs.