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.
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.
Authors: Molly Housley Smith; Indraneel Bhattacharyya; Donald M Cohen; Nadim M Islam; Sarah G Fitzpatrick; Lindsay J Montague; Douglas D Damm; Craig B Fowler Journal: Head Neck Pathol Date: 2016-01-11
Authors: Jasmine H Francis; Thomas Wiesner; Tatyana Milman; Helen H Won; Amy Lin; Vivian Lee; Daniel M Albert; Robert Folberg; Michael F Berger; Devron H Char; Brian Marr; David H Abramson Journal: Ocul Oncol Pathol Date: 2016-01-27
Authors: Tova Rogers; Maria L Marino; Patricia Raciti; Manu Jain; Klaus J Busam; Michael A Marchetti; Ashfaq A Marghoob Journal: G Ital Dermatol Venereol Date: 2016-04-27 Impact factor: 2.011
Authors: Jasmine H Francis; Hans E Grossniklaus; Larissa A Habib; Brian Marr; David H Abramson; Klaus J Busam Journal: Invest Ophthalmol Vis Sci Date: 2018-01-01 Impact factor: 4.799