Case Report ARTICLE
Somatic mutations profile of a young patient with metastatic urothelial carcinoma reveals mutations in genes involved in ion channels
- 1Institute of Bioinformatics (IOB), India
- 2Medgenome Pvt. Ltd, India
- 3Post Graduate Institute of Medical Education and Research (PGIMER), India
Background: Urothelial carcinoma is the most common malignancy of the bladder and considered as primarily a disease of the elderly. Studies addressing bladder tumor occurrence in young age group are rare.
Case presentation: A 19-year-old male presented with gross total painless haematuria. Histology after biopsy revealed high-grade transitional cell carcinoma with lymph node metastasis. The patient succumbed to the disease on the day 72 of the treatment. Here, we used whole-exome sequencing of paired tumor-normal sample to identify somatic mutations and 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 behaviour of tumor. Ion channels are the second largest class of drug targets, thus may serve as a putative potential therapeutic targets in advanced stage urothelial carcinoma.
Keywords: NGS, bladder carcinoma, Altered pathways, drugs, therapy
Received: 11 Mar 2019;
Accepted: 07 May 2019.
Edited by:Ja Hyeon Ku, Department of Urology, College of Medicine, Seoul National University, South Korea
Reviewed by:SAZZAD HASSAN, School of Medicine, Indiana University Bloomington, United States
Daniele Baiz, University of Plymouth, United Kingdom
Copyright: © 2019 Sharma, Deb, George, Kapil, Coral, Kakkar, Pattanaik, Mandal, Mavuduru and Kumar. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Dr. Ravimohan S. Mavuduru, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160 012, Punjab, India, firstname.lastname@example.org
Dr. Prashant Kumar, Institute of Bioinformatics (IOB), Bangalore, Karnataka, India, email@example.com