Absence of microsatellite instability andBRAF(V600E) mutation in testicular germ cell tumors

• DOI: 10.1111/andr.12200
• Publication Date: 2016-05-06T17:57:25Z
• Authors: F. M. Cárcano; A. H. Lengert; D. O. Vidal; C. Scapulatempo Neto; L. Queiroz; H. Marques; F. Baltazar; G.N. Berardinelli; C. M. S. Martinelli; E. C. A. da Silva; R.M. Reis; L. F. Lopes
• Keywords: Microsatellite Instability

Testicular germ cell tumors (TGCT) are the most common malignant neoplasm in young men. DNA mismatch repair deficiency can lead to microsatellite instability (MSI), an important mechanism of genetic instability. A mutation BRAF gene has been implicated pathogenesis several solid and recently become therapeutic target. The role MSI TGCT, particularly refractory disease, is poorly understood reported findings controversial. In this study, we aimed determine frequency clinical impact status mutations TGCT. was isolated from formalin-fixed paraffin embedded (FFPE) tissue 150 TGCT cases. phenotype evaluated using multiplex PCR for five quasimonomorphic mononucleotide repeat markers. Exon 15 oncogene (V600E) analyzed by PCR, followed direct sequencing. Sixteen percent cases were considered have disease. a small subset (17 18 BRAF), quantity quality recovery poor therefore, unable be analyzed. remaining 133 showed complete absence MSI. Of 132 successfully mutations, all V600E wild-type. conclusion, despite distinct response testicular therapy, instability, absent tested study.