TY - JOUR
T1 - BRAF and GNAQ mutations in melanocytic tumors of the oral cavity
AU - Cohen, Yoram
AU - Goldenberg-Cohen, Nitza
AU - Akrish, Sharon
AU - Shani, Tali
AU - Amariglio, Ninette
AU - Dratviman-Storobinsky, Olga
AU - Kaplan, Ilana
AU - Barshack, Iris
AU - Hirshberg, Abraham
N1 - Funding Information:
Four cases of oral malignant melanomas were retrieved from archives of the pathology departments of Rabin Medical Center and Sheba Medical Center. In addition, 10 melanocytic nevi were retrieved from the department of oral pathology at the School of Dental Medicine, Tel-Aviv University. The study protocol was approved by the Institutional Review Board and by the Ministry of Health Ethical Review Board for the Use of Genetic Material. The anonymity of the patients investigated was preserved according to the data protection rules of the Ministry of Health for the Use of Genetic Material.
PY - 2012/12/1
Y1 - 2012/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84869433293&partnerID=8YFLogxK
U2 - 10.1016/j.oooo.2012.09.001
DO - 10.1016/j.oooo.2012.09.001
M3 - Article
C2 - 23159116
AN - SCOPUS:84869433293
SN - 2212-4403
VL - 114
SP - 778
EP - 784
JO - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
JF - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
IS - 6
ER -
