Mutation analysis of metastatic melanomas in the central nervous system: results of a panel of 5 genes in 48 cases

Melanocytic lesions in the central nervous system (CNS) may be primary to the site but are more commonly metastases from cutaneous primaries. In fact, melanomas are one of the most common malignancies that can metastasize to the brain, and some patients may not have a diagnosis of melanoma prior to...

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Veröffentlicht in:Clinical neuropathology 2016-07, Vol.35 (4), p.178-185
Hauptverfasser: Gamsizkan, Mehmet, Yilmaz, Ismail, Simsek, Hasan Aktug, Onguru, Onder, Griffin, Ann, Tihan, Tarik
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container_end_page 185
container_issue 4
container_start_page 178
container_title Clinical neuropathology
container_volume 35
creator Gamsizkan, Mehmet
Yilmaz, Ismail
Simsek, Hasan Aktug
Onguru, Onder
Griffin, Ann
Tihan, Tarik
description Melanocytic lesions in the central nervous system (CNS) may be primary to the site but are more commonly metastases from cutaneous primaries. In fact, melanomas are one of the most common malignancies that can metastasize to the brain, and some patients may not have a diagnosis of melanoma prior to the discovery of the CNS lesion. In such cases, identifying the primary site may be challenging. We reviewed the archives of a large referral center for melanocytic tumors involving the CNS and selected 48 patients for this study based on our inclusion criteria. We used sequencing to identify mutation status of these tumors and compared these with clinicopathological features. Mutations in exon 9, 11, 13, 17, and 18 of KIT gene, exon 15 of BRAF gene, exon 2 and 3 of NRAS gene, exon 4 and 5 of GNAQ and GNA11 genes were analyzed. Mutations in BRAF-exon 15 were the most common among tumors (58.3%). NRAS-exon 2 and NRAS-exon 3 mutations were detected in 3 and 7 cases, respectively. GNAQ-exon 4, GNAQ-exon 5 and GNA11-exon 5 mutation were present in 1 tumor each. Eight tumors were wild type for all 5 genes, and 6 of these were not known primary despite a work-up and clinical follow-up. Only 1 of these tumors showed a mutation in exon 11 of KIT gene. When compared to primary melanocytic lesions of the CNS, metastatic melanomas were characterized by BRAF gene mutations and wild-type GNAQ and GNA11 genes.
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ispartof Clinical neuropathology, 2016-07, Vol.35 (4), p.178-185
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subjects Adolescent
Adult
Aged
Aged, 80 and over
Brain Neoplasms - genetics
Brain Neoplasms - secondary
DNA Mutational Analysis
Female
Genes
Humans
Male
Melanoma
Melanoma - genetics
Melanoma - secondary
Metastasis
Middle Aged
Mutation
Nervous system
Polymerase Chain Reaction
Tumors
Young Adult
title Mutation analysis of metastatic melanomas in the central nervous system: results of a panel of 5 genes in 48 cases
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