Article
SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas.
Acta neuropathologica communications - 15 Jan 2016
Küsters-Vandevelde Heidi V N, Creytens David, van Engen-van Grunsven Adriana C H, Jeunink Marcel, Winnepenninckx Veronique, Groenen Patricia J T A, Küsters Benno, Wesseling Pieter, Blokx Willeke A M, Prinsen Clemens F M
Abstract excerpt
INTRODUCTION: Like uveal melanomas, primary leptomeningeal melanocytic neoplasms (LMNs) frequently carry GNAQ and GNA11 mutations. However, it is currently unknown whether these LMNs harbor mutations in BAP1, SF3B1 and/or EIF1AX like uveal melanomas as well. In this study, we used Sanger sequencing for the detection of mutations in SF3B1 (hotspots in exon 14 and 15) and EIF1AX (exon 1 and 2 and flanking intronic...
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