Article
Molecular characterisation of sporadic endolymphatic sac tumours and comparison to von Hippel-Lindau disease-related tumours.
Neuropathology and applied neurobiology - 1 Oct 2021
Schweizer Leonille, Thierfelder Felix, Thomas Christian, Soschinski Patrick, Kim Hee-Yeong, Jödicke Ruben, Woltering Niklas, Förster Alexandra, Teichmann Daniel, Siewert Christin, Klein Katharina, Schmid Simone, Nunninger Maximilian, Thomale Ulrich-Wilhelm, Onken Julia, Mühleisen Helmut, Schittenhelm Jens, Tatagiba Marcos, von Deimling Andreas, Reuss David E, Solomon David A, Heppner Frank L, Koch Arend, Hartmann Christian, Staszewski Ori, Capper David
Abstract excerpt
AIMS: Although inactivation of the von Hippel-Lindau gene (VHL) on chromosome 3p25 is considered to be the major cause of hereditary endolymphatic sac tumours (ELSTs), the genetic background of sporadic ELST is largely unknown. The aim of this study was to determine the prevalence of VHL mutations in sporadic ELSTs and compare their characteristics to VHL-disease-related tumours. METHODS: Genetic and epigenetic...
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