Hotspot TERT promoter mutations are rare events in testicular germ cell tumors

• DOI: 10.1007/s13277-015-4317-y
• Publication Date: 2015-11-02T23:43:33Z
• Authors: Flavio Mavignier ...; Daniel Onofre Vidal; André van Helvoor...; Cristovam Scapula...; Luisa Queiroz; Herlander Marques; Fátima Baltazar; Camila Maria da S...; Paula Soares; Eduardo Caetano A...; Luiz Fernando Lopes; Rui Manuel Reis
• Keywords: Sanger sequencing

The abnormal activation of telomerase, codified by the telomerase reverse transcriptase (TERT) gene, is related to one cancer hallmarks. Hotspot somatic mutations in promoter region TERT, specifically c.-124:C>T and c.-146:C>T, were recently identified a range human cancers have been associated with more aggressive behavior. Testicular germ cell tumors frequently exhibit good prognosis; however, development refractory disease still clinical challenge. In this study, we aim evaluate for first time presence hotspot gene testicular tumors. A series 150 tumor cases four lines evaluated PCR followed direct Sanger sequencing correlated patient's pathological features. Additionally, genotyped single nucleotide polymorphism rs2853669 (T>C) located at -245 position. We observed TERT mutation patients, exhibited three c.-146:C>T. No association between status clinicopathological features could be identified. analysis showed that variant C was present 22.8 % cases. conclusion, occur small subset (~3 %)