BRAF and GNAQ mutations in melanocytic tumors of the oral cavity

Yoram Cohen; Nitza Goldenberg-Cohen; Sharon Akrish; Tali Shani; Ninette Amariglio; Olga Dratviman-Storobinsky; Ilana Kaplan; Iris Barshack; Abraham Hirshberg

doi:10.1016/j.oooo.2012.09.001

BRAF and GNAQ mutations in melanocytic tumors of the oral cavity

Yoram Cohen, Nitza Goldenberg-Cohen, Sharon Akrish, Tali Shani, Ninette Amariglio, Olga Dratviman-Storobinsky, Ilana Kaplan, Iris Barshack, Abraham Hirshberg

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	778-784
Number of pages	7
Journal	Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Volume	114
Issue number	6
DOIs	https://doi.org/10.1016/j.oooo.2012.09.001
State	Published - Dec 2012
Externally published	Yes

Bibliographical note

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.

Funding

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.

Funders	Funder number
Ministry of Health Ethical Review Board

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10.1016/j.oooo.2012.09.001

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title = "BRAF and GNAQ mutations in melanocytic tumors of the oral cavity",

abstract = "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.",

author = "Yoram Cohen and Nitza Goldenberg-Cohen and Sharon Akrish and Tali Shani and Ninette Amariglio and Olga Dratviman-Storobinsky and Ilana Kaplan and Iris Barshack and Abraham Hirshberg",

note = "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. ",

year = "2012",

month = dec,

doi = "10.1016/j.oooo.2012.09.001",

language = "אנגלית",

volume = "114",

pages = "778--784",

journal = "Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology",

issn = "2212-4403",

publisher = "Elsevier USA",

number = "6",

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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

Y1 - 2012/12

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.

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BRAF and GNAQ mutations in melanocytic tumors of the oral cavity

Abstract

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