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 |
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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. |
doi_str_mv | 10.5414/NP300941 |
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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.</description><identifier>ISSN: 0722-5091</identifier><identifier>DOI: 10.5414/NP300941</identifier><identifier>PMID: 27117140</identifier><language>eng</language><publisher>Germany: Dustri - Verlag Dr. Karl Feistle GmbH & Co. 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When compared to primary melanocytic lesions of the CNS, metastatic melanomas were characterized by BRAF gene mutations and wild-type GNAQ and GNA11 genes.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Brain Neoplasms - genetics</subject><subject>Brain Neoplasms - secondary</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Genes</subject><subject>Humans</subject><subject>Male</subject><subject>Melanoma</subject><subject>Melanoma - genetics</subject><subject>Melanoma - secondary</subject><subject>Metastasis</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Nervous system</subject><subject>Polymerase Chain Reaction</subject><subject>Tumors</subject><subject>Young Adult</subject><issn>0722-5091</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNpdkElLBDEQhXNQHDfwF0jAi5fRVLrSmfYm4gZuBz03mZ6KtvQyptLC_Hsz46jgqR7F9x5VT4gDUCcGAU8fnjKlCoQNsa2s1mOjChiJHeZ3pYy2eb4lRtoCWEC1LcL9EF2s-066zjULrln2XrYUHS_3VZKN6_rWsaw7Gd9IVtTF4BrZUfjsB5a84EjtmQzEQxNXdifnrqNmKY18pY5WZpzIyjHxntj0rmHaX89d8XJ1-XxxM757vL69OL8bVxlATHdDPp2hMcp6BNAGi4lG7wxZpZVCMF7n2hplJkU1RauVB-9zj5jNXOUw2xXH37nz0H8MxLFsa66oSf9QOrwEW0yKAtFkCT36h773Q0iFJCoxgNai_QusQs8cyJfzULcuLEpQ5bL78qf7hB6uA4dpS7Nf8Kf47Auqa347</recordid><startdate>20160701</startdate><enddate>20160701</enddate><creator>Gamsizkan, Mehmet</creator><creator>Yilmaz, Ismail</creator><creator>Simsek, Hasan Aktug</creator><creator>Onguru, Onder</creator><creator>Griffin, Ann</creator><creator>Tihan, Tarik</creator><general>Dustri - Verlag Dr. Karl Feistle GmbH & Co. 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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. 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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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