T1799A BRAF mutations in conjunctival melanocytic lesions

Nitza Goldenberg-Cohen, Yoram Cohen, Eli Rosenbaum, Zvi Herscovici, Itay Chowers, Dov Weinberger, Jacob Pe'er, David Sidransky

Research output: Contribution to journalArticle

Abstract

PURPOSE. To gain a better understanding of the molecular events leading to the development of conjunctival melanocytic lesions and conjunctival melanoma, this study was conducted to investigate the presence of T1799A BRAF oncogenic mutation in these lesions. METHODS. Forty-eight surgically excised conjunctival melanocytic lesions from 48 patients were examined for the presence of the BRAF T1799A mutation. Twenty-eight lesions were conjunctival nevi, of which 20 were excised from children younger than 18 years. Fifteen lesions were conjunctival primary acquired melanosis (PAM; 11 without atypia and 4 with atypia) and five were conjunctival melanomas. To detect the BRAF T1799A. mutation, both a newly developed kit (Mutector; TrimGen, Sparks, MD) and direct DNA sequence analysis of exon 15 after PCR amplification were used. RESULTS. The T1799A BRAF mutation was identified in 14 of 28 (50%) conjunctival nevi analyzed, but in none of the 15 conjunctival PAMs, with and without atypia. The T1799A BRAF mutation was identified in two of the five (40%) conjunctival melanomas. There was no difference in the BRAF mutation detected in conjunctival nevi in children or adults, as the BRAF mutation was detected in 50%. CONCLUSIONS. The results showed that conjunctival nevi, similar to skin nevi, have a high frequency of oncogenic BRAF mutations. Furthermore, the results suggest that the oncogenic event leading to BRAF mutations affect only conjunctival nevi and not conjunctival PAM. The clinical significance of these observations remains to be determined.

Original languageEnglish (US)
Pages (from-to)3027-3030
Number of pages4
JournalInvestigative Ophthalmology and Visual Science
Volume46
Issue number9
DOIs
StatePublished - Sep 2005

Fingerprint

Nevus
Mutation
Melanoma
Melanosis
DNA Sequence Analysis
Exons
Polymerase Chain Reaction
Skin

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Goldenberg-Cohen, N., Cohen, Y., Rosenbaum, E., Herscovici, Z., Chowers, I., Weinberger, D., ... Sidransky, D. (2005). T1799A BRAF mutations in conjunctival melanocytic lesions. Investigative Ophthalmology and Visual Science, 46(9), 3027-3030. https://doi.org/10.1167/iovs.04-1449

T1799A BRAF mutations in conjunctival melanocytic lesions. / Goldenberg-Cohen, Nitza; Cohen, Yoram; Rosenbaum, Eli; Herscovici, Zvi; Chowers, Itay; Weinberger, Dov; Pe'er, Jacob; Sidransky, David.

In: Investigative Ophthalmology and Visual Science, Vol. 46, No. 9, 09.2005, p. 3027-3030.

Research output: Contribution to journalArticle

Goldenberg-Cohen, N, Cohen, Y, Rosenbaum, E, Herscovici, Z, Chowers, I, Weinberger, D, Pe'er, J & Sidransky, D 2005, 'T1799A BRAF mutations in conjunctival melanocytic lesions', Investigative Ophthalmology and Visual Science, vol. 46, no. 9, pp. 3027-3030. https://doi.org/10.1167/iovs.04-1449
Goldenberg-Cohen N, Cohen Y, Rosenbaum E, Herscovici Z, Chowers I, Weinberger D et al. T1799A BRAF mutations in conjunctival melanocytic lesions. Investigative Ophthalmology and Visual Science. 2005 Sep;46(9):3027-3030. https://doi.org/10.1167/iovs.04-1449
Goldenberg-Cohen, Nitza ; Cohen, Yoram ; Rosenbaum, Eli ; Herscovici, Zvi ; Chowers, Itay ; Weinberger, Dov ; Pe'er, Jacob ; Sidransky, David. / T1799A BRAF mutations in conjunctival melanocytic lesions. In: Investigative Ophthalmology and Visual Science. 2005 ; Vol. 46, No. 9. pp. 3027-3030.
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abstract = "PURPOSE. To gain a better understanding of the molecular events leading to the development of conjunctival melanocytic lesions and conjunctival melanoma, this study was conducted to investigate the presence of T1799A BRAF oncogenic mutation in these lesions. METHODS. Forty-eight surgically excised conjunctival melanocytic lesions from 48 patients were examined for the presence of the BRAF T1799A mutation. Twenty-eight lesions were conjunctival nevi, of which 20 were excised from children younger than 18 years. Fifteen lesions were conjunctival primary acquired melanosis (PAM; 11 without atypia and 4 with atypia) and five were conjunctival melanomas. To detect the BRAF T1799A. mutation, both a newly developed kit (Mutector; TrimGen, Sparks, MD) and direct DNA sequence analysis of exon 15 after PCR amplification were used. RESULTS. The T1799A BRAF mutation was identified in 14 of 28 (50{\%}) conjunctival nevi analyzed, but in none of the 15 conjunctival PAMs, with and without atypia. The T1799A BRAF mutation was identified in two of the five (40{\%}) conjunctival melanomas. There was no difference in the BRAF mutation detected in conjunctival nevi in children or adults, as the BRAF mutation was detected in 50{\%}. CONCLUSIONS. The results showed that conjunctival nevi, similar to skin nevi, have a high frequency of oncogenic BRAF mutations. Furthermore, the results suggest that the oncogenic event leading to BRAF mutations affect only conjunctival nevi and not conjunctival PAM. The clinical significance of these observations remains to be determined.",
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AU - Cohen, Yoram

AU - Rosenbaum, Eli

AU - Herscovici, Zvi

AU - Chowers, Itay

AU - Weinberger, Dov

AU - Pe'er, Jacob

AU - Sidransky, David

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N2 - PURPOSE. To gain a better understanding of the molecular events leading to the development of conjunctival melanocytic lesions and conjunctival melanoma, this study was conducted to investigate the presence of T1799A BRAF oncogenic mutation in these lesions. METHODS. Forty-eight surgically excised conjunctival melanocytic lesions from 48 patients were examined for the presence of the BRAF T1799A mutation. Twenty-eight lesions were conjunctival nevi, of which 20 were excised from children younger than 18 years. Fifteen lesions were conjunctival primary acquired melanosis (PAM; 11 without atypia and 4 with atypia) and five were conjunctival melanomas. To detect the BRAF T1799A. mutation, both a newly developed kit (Mutector; TrimGen, Sparks, MD) and direct DNA sequence analysis of exon 15 after PCR amplification were used. RESULTS. The T1799A BRAF mutation was identified in 14 of 28 (50%) conjunctival nevi analyzed, but in none of the 15 conjunctival PAMs, with and without atypia. The T1799A BRAF mutation was identified in two of the five (40%) conjunctival melanomas. There was no difference in the BRAF mutation detected in conjunctival nevi in children or adults, as the BRAF mutation was detected in 50%. CONCLUSIONS. The results showed that conjunctival nevi, similar to skin nevi, have a high frequency of oncogenic BRAF mutations. Furthermore, the results suggest that the oncogenic event leading to BRAF mutations affect only conjunctival nevi and not conjunctival PAM. The clinical significance of these observations remains to be determined.

AB - PURPOSE. To gain a better understanding of the molecular events leading to the development of conjunctival melanocytic lesions and conjunctival melanoma, this study was conducted to investigate the presence of T1799A BRAF oncogenic mutation in these lesions. METHODS. Forty-eight surgically excised conjunctival melanocytic lesions from 48 patients were examined for the presence of the BRAF T1799A mutation. Twenty-eight lesions were conjunctival nevi, of which 20 were excised from children younger than 18 years. Fifteen lesions were conjunctival primary acquired melanosis (PAM; 11 without atypia and 4 with atypia) and five were conjunctival melanomas. To detect the BRAF T1799A. mutation, both a newly developed kit (Mutector; TrimGen, Sparks, MD) and direct DNA sequence analysis of exon 15 after PCR amplification were used. RESULTS. The T1799A BRAF mutation was identified in 14 of 28 (50%) conjunctival nevi analyzed, but in none of the 15 conjunctival PAMs, with and without atypia. The T1799A BRAF mutation was identified in two of the five (40%) conjunctival melanomas. There was no difference in the BRAF mutation detected in conjunctival nevi in children or adults, as the BRAF mutation was detected in 50%. CONCLUSIONS. The results showed that conjunctival nevi, similar to skin nevi, have a high frequency of oncogenic BRAF mutations. Furthermore, the results suggest that the oncogenic event leading to BRAF mutations affect only conjunctival nevi and not conjunctival PAM. The clinical significance of these observations remains to be determined.

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