GNA11 and N‐RAS mutations: alternatives for MAPK pathway activating GNAQ mutations in primary melanocytic tumours of the central nervous system. Issue 4 (25th April 2013)

• Record Type: Journal Article
• Authors: Gessi, M.; Hammes, J.; Lauriola, L.; Dörner, E.; Kirfel, J.; Kristiansen, G.; zur Muehlen, A.; Denkhaus, D.; Waha, A.; Pietsch, T.
• Is Part Of: Neuropathology & applied neurobiology. Volume 39:Issue 4(2013)
• Page Start: 417
• Page End: 425
• Publication Date: 2013-04-25
• Subjects: Nervous system -- Diseases -- Pathology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/j.1365-2990.2012.01288.x
• Languages: English
• ISSNs: 0305-1846

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <p>M. Gessi, J. Hammes, L. Lauriola, E. Dörner, J. Kirfel, G. Kristiansen, A. zur Muehlen, D. Denkhaus, A. Waha and T. Pietsch (2013) <italic>Neuropathology and Applied Neurobiology</italic><bold>39, </bold> 417–425</p> <p> <bold> <italic>GNA11</italic> and <italic>N‐RAS</italic> mutations: alternatives for MAPK pathway activating GNAQ mutations in primary melanocytic tumours of the central nervous system</bold> </p> <p> <bold>Aim:</bold> Primary melanocytic tumours are uncommon neoplasms of the central nervous system. Although similarities with uveal melanomas have been hypothesized, data on their molecular features are limited. <bold>Methods:</bold> In this study, we investigated the mutational status of <italic>BRAF<sup>V600E</sup></italic>, <italic>KIT</italic>, <italic>GNAQ</italic>, <italic>GNA11</italic>, <italic>N‐RAS</italic> and <italic>H‐RAS</italic> in a series of 19 primary melanocytic tumours of the central nervous system (CNS). <bold>Results:</bold> We identified six cases harbouring mutations in the hotspot codon 209 of the <italic>GNAQ</italic> gene and two cases with mutations in the hotspot codon 209 of the <italic>GNA11</italic> gene. Two mutations in codon 61 of <italic>N‐RAS</italic> were also found. In the single strand conformation polymorphism (SSCP) analysis, no shifts corresponding to <italic>BRAF</italic><sup>V600E</sup> mutations or suggesting activating mutations in the <italic>KIT</italic> gene were observed. <bold>Conclusions:</bold> In primary melanocytic tumours of the CNS, <italic>GNA11</italic> and <italic>N‐RAS</italic> mutations represent a mechanism of MAPK pathway activation alternative to the common <italic>GNAQ</italic> mutations. On the other hand, <italic>BRAF</italic><sup>V600E</sup> mutations and activating <italic>KIT</italic> mutations seem to be absent or very rare in these tumours.</p> </abstract>