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Background:  Urothelial carcinoma is the most common malignancy of the bladder and is primarily considered as a disease of the elderly. Studies that address bladder tumor occurrence in young age groups are rare.   Case Presentation:  A 19-year-old male presented with a gross total painless hematuria. A histology after biopsy revealed a high-grade transitional cell carcinoma with lymph node metastasis. The patient succumbed to the disease on day 72 of the treatment. Here, we used whole-exome sequencing of a paired tumor-normal sample to identify the somatic mutations and the possible targets of treatment.   Result:  We predicted eight potential driver mutations ( TP53  p.V157L,  RB1  c.1498+1G>T,  MED23  p.L1127P,  CTNND1  p.S713C,  NSD1  p.P2212A,  MED17  p.G556V,  DPYD  p.Q814K, and  SPEN  p.S1078 * ). In addition, we predicted deleterious mutations in genes involved in the ion channels ( CACNA1S  p.E1581K,  CACNG1  p.P71T,  CACNG8  p.G404W,  GRIN2B  p.A1096T,  KCNC1  p.G16V,  KCNH4  p.E874K,  KCNK9  p.R131S,  P2RX7  p.A296D, and  SCN8A  p.R558H).   Conclusions:  Most likely, mutations in genes involved in ion channels may be responsible for the aggressive behavior of a tumor. Ion channels are the second largest class of drug targets, and may thus serve as a putative potential therapeutic target in advanced stage urothelial carcinoma.

Somatic Mutations Profile of a Young Patient With Metastatic Urothelial Carcinoma Reveals Mutations in Genes Involved in Ion Channels