TSC1 and neoplasm: We observed four mutations including three GMTAs in CPS1: splice-site mutation and long deletion causing exon skips, and translocation generating fusion transcripts for CPS1. TSC1, a key modulator of the mTOR pathway, has been implicated as a tumor suppressor in many types of cancers [27], and TSC1 mutations in bladder cancers are shown to be related to everolimus sensitivity [28].