BRAF and GNAQ mutations in melanocytic tumors of the oral cavity

Objective The genetic factors participating in oral melanoma evolution have not been studied extensively. We aimed to analyze the prevalence of BRAF and GNAQ mutations in a series of oral melanocytic tumors, nevi, and melanomas. Study Design The study group consisted of 4 melanomas and 10 nevi (6 in...

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Published in:Oral surgery, oral medicine, oral pathology and oral radiology oral medicine, oral pathology and oral radiology, 2012-12, Vol.114 (6), p.778-784
Main Authors: Cohen, Yoram, MD, Goldenberg-Cohen, Nitza, MD, Akrish, Sharon, DMD, Shani, Tali, DMD, Amariglio, Ninette, PhD, Dratviman-Storobinsky, Olga, MSc, Kaplan, Ilana, DMD, Barshack, Iris, MD, Hirshberg, Abraham, MD, DMD
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Dentistry
DNA Primers
GTP-Binding Protein alpha Subunits - genetics
GTP-Binding Protein alpha Subunits, Gq-G11
Humans
Medical sciences
Melanoma - genetics
Mouth Neoplasms - genetics
Mutation
Otorhinolaryngology. Stomatology
Polymerase Chain Reaction
Proto-Oncogene Proteins B-raf - genetics
Surgery
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Summary:Objective The genetic factors participating in oral melanoma evolution have not been studied extensively. We aimed to analyze the prevalence of BRAF and GNAQ mutations in a series of oral melanocytic tumors, nevi, and melanomas. Study Design The study group consisted of 4 melanomas and 10 nevi (6 intramucosal, 4 blue nevi). DNA was extracted from paraffin-embedded tissue sections, and mutations in GNAQ and BRAF were analyzed with the use of mass spectrometery. Results V600E point mutation was identified in the BRAF gene in 3 intramucosal nevi and in 2 melanomas. Only 1 blue nevus harbored the GNAQ209 mutation. None of the BRAF -positive samples harbored GNAQ mutations. Conclusions The finding of BRAF mutations in oral benign and malignant melanocytic lesions points to a potential initiating role of BRAF in malignant transformation, which may have important therapeutic implications as those with BRAF mutations may benefit from specific treatment using RAF inhibitors.
ISSN:2212-4403
2212-4411
DOI:10.1016/j.oooo.2012.09.001