Article
Copy number variation analysis and methylome profiling of a GNAQ-mutant primary meningeal melanocytic tumor and its liver metastasis.
Experimental and molecular pathology - 1 Feb 2017
Küsters-Vandevelde Heidi V N, Kruse Vibeke, Van Maerken Tom, Boterberg Tom, Pfundt Rolph, Creytens David, Van den Broecke Caroline, Machielsen Trudi C, Koelsche Christian, von Deimling Andreas, Küsters Benno, Groenen Patricia J T A, Wesseling Pieter, Blokx Willeke A M
Abstract excerpt
Primary meningeal melanocytic tumors have genetic similarities with uveal melanomas, including GNAQ or GNA11 mutations. While BAP1 mutations and loss of chromosome 3 have adverse prognostic meaning in uveal melanoma, genetic alterations associated with metastasis have not been investigated in primary meningeal melanocytic tumors. We describe a 43-year-old female with a GNAQ-mutated, BAP1-wt melanocytic tumor...
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