To assess the relevant molecular genetics of ESC-RCC, Trpkov et al. analyzed molecular karyotype expression in 12 ESC-RCC cases, and found that the tumor can exhibit copy number acquisition of chromosomes 16, 7, 13q, and 19p, copy number deletion of Xp11.21 and 22q11.23, and loss of heterozygosity of TSC1 and TSC2. Multiple other studies have reported the presence of mutations in both TSC1 and TSC2 in ESC-RCC [8, 14, 15]. The gene discussed is TSC1; the disease is renal cell carcinoma.