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

• Published in: Frontiers in oncology 2019-05, Vol.9, p.435
• Main Authors: Sharma, Jyoti, Deb, Barnali, George, Irene A, Kapil, Shruthi, Coral, Karunakaran, Kakkar, Nandita, Pattanaik, Smita, Mandal, Arup Kumar, Mavuduru, Ravimohan S, Kumar, Prashant
• Format: Article
• Language: English
• Subjects: altered pathways; bladder carcinoma; drugs; NGS; Oncology; therapy
• ISSN: 2234-943X; 2234-943X
• DOI: 10.3389/fonc.2019.00435

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. 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. We predicted eight potential driver mutations ( p.V157L, c.1498+1G>T, p.L1127P, p.S713C, p.P2212A, p.G556V, p.Q814K, and p.S1078 ). In addition, we predicted deleterious mutations in genes involved in the ion channels ( p.E1581K, p.P71T, p.G404W, p.A1096T, p.G16V, p.E874K, p.R131S, p.A296D, and p.R558H). 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.