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BRAF V 600 E and loss of heterozygosity assessment in benign oralneural tumours
Author(s) -
Rodrigues Leonardo Nogueira,
Correa GefterThiago Batista,
Diniz Marina Gonçalves,
Galvão Clarice Ferreira,
Gomes Carolina Cavaliéri,
Gomez Ricardo Santiago
Publication year - 2015
Publication title -
journal of oral pathology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.887
H-Index - 83
eISSN - 1600-0714
pISSN - 0904-2512
DOI - 10.1111/jop.12337
Subject(s) - loss of heterozygosity , neurofibroma , pathology , biology , microsatellite , schwannoma , v600e , microbiology and biotechnology , medicine , neurofibromatosis , mutation , genetics , gene , allele
Background The purpose of this study was to evaluate loss of heterozygosity ( LOH ) and to assess BRAF V 600 E mutation in oral neurofibromas, palisaded encapsulated neuromas ( PEN ) and schwannomas. Methods Six oral neurofibroma, 5 PEN and 3 schwannoma samples were included in the study. LOH was assessed using polymorphic microsatellite markers at chromosome regions 3p (marker D 3 S 1029), 9p (markers D 9 S 171, D 9 S 162, D 9 S 157), 11q (marker D 11 S 1369), and 17p (markers AFM 238 WF 2 and P 53), and results were evaluated after capillary electrophoresis. BRAF mutation encoding V 600 E was assessed by real‐time PCR with a specific T aq M an probe to detect the T > A transversion at position c.1799. Results LOH occurred at chromosomes 3p (marker D 3 S 1029), 11q ( D 11 S 1369) and 17p ( AFM 238 WF 2 and P 53). LOH occurred in 2/6 neurofibromas, 2/5 PEN and in none of the 3 schwannoma samples. The 6 neurofibromas, 2/2 PEN evaluated and the 3 schwannomas were BRAF wild type. Conclusion According to our results, oral benign peripheral nerve sheath tumours have a low LOH rate, but P 53 locus alteration is occasionally found. Additionally, BRAF V 600 E mutation is either not relevant to the molecular pathogenesis of this group of lesions of the oral cavity, or may occur at very low rates.