AIM: 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. METHODS: In this study, we investigated the mutational status of BRAF(V600E) , KIT, GNAQ, GNA11, N-RAS and H-RAS in a series of 19 primary melanocytic tumours of the central nervous system (CNS). RESULTS: We identified six cases harbouring mutations in the hotspot codon 209 of the GNAQ gene and two cases with mutations in the hotspot codon 209 of the GNA11 gene. Two mutations in codon 61 of N-RAS were also found. In the single strand conformation polymorphism (SSCP) analysis, no shifts corresponding to BRAF(V600E) mutations or suggesting activating mutations in the KIT gene were observed. CONCLUSIONS: In primary melanocytic tumours of the CNS, GNA11 and N-RAS mutations represent a mechanism of MAPK pathway activation alternative to the common GNAQ mutations. On the other hand, BRAF(V600E) mutations and activating KIT mutations seem to be absent or very rare in these tumours.
AIM: 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. METHODS: In this study, we investigated the mutational status of BRAF(V600E) , KIT, GNAQ, GNA11, N-RAS and H-RAS in a series of 19 primary melanocytic tumours of the central nervous system (CNS). RESULTS: We identified six cases harbouring mutations in the hotspot codon 209 of the GNAQ gene and two cases with mutations in the hotspot codon 209 of the GNA11 gene. Two mutations in codon 61 of N-RAS were also found. In the single strand conformation polymorphism (SSCP) analysis, no shifts corresponding to BRAF(V600E) mutations or suggesting activating mutations in the KIT gene were observed. CONCLUSIONS: In primary melanocytic tumours of the CNS, GNA11 and N-RAS mutations represent a mechanism of MAPK pathway activation alternative to the common GNAQ mutations. On the other hand, BRAF(V600E) mutations and activating KIT mutations seem to be absent or very rare in these tumours.
Authors: Heidi V N Küsters-Vandevelde; Ilse A C H van Engen-van Grunsven; Sarah E Coupland; Sarah L Lake; Jos Rijntjes; Rolph Pfundt; Benno Küsters; Pieter Wesseling; Willeke A M Blokx; Patricia J T A Groenen Journal: Pathol Oncol Res Date: 2014-10-15 Impact factor: 3.201
Authors: Johannes van de Nes; Marco Gessi; Antje Sucker; Inga Möller; Mathias Stiller; Susanne Horn; Simone L Scholz; Carina Pischler; Nadine Stadtler; Bastian Schilling; Lisa Zimmer; Uwe Hillen; Richard A Scolyer; Michael E Buckland; Libero Lauriola; Torsten Pietsch; Andreas Waha; Dirk Schadendorf; Rajmohan Murali; Klaus G Griewank Journal: J Neurooncol Date: 2016-01-07 Impact factor: 4.130
Authors: Robertson Mackenzie; Stefan Kommoss; Boris J Winterhoff; Benjamin R Kipp; Joaquin J Garcia; Jesse Voss; Kevin Halling; Anthony Karnezis; Janine Senz; Winnie Yang; Elena-Sophie Prigge; Miriam Reuschenbach; Magnus Von Knebel Doeberitz; Blake C Gilks; David G Huntsman; Jamie Bakkum-Gamez; Jessica N McAlpine; Michael S Anglesio Journal: BMC Cancer Date: 2015-05-19 Impact factor: 4.430
Authors: Yao Chen; Xiaoqin Lu; Diego E Montoya-Durango; Yu-Hua Liu; Kevin C Dean; Douglas S Darling; Henry J Kaplan; Douglas C Dean; Ling Gao; Yongqing Liu Journal: Sci Rep Date: 2017-03-03 Impact factor: 4.379
Authors: Malin Pedersen; Heidi V N Küsters-Vandevelde; Amaya Viros; Patricia J T A Groenen; Berta Sanchez-Laorden; Jacobus H Gilhuis; Ilse A van Engen-van Grunsven; Willy Renier; Jolanda Schieving; Ion Niculescu-Duvaz; Caroline J Springer; Benno Küsters; Pieter Wesseling; Willeke A M Blokx; Richard Marais Journal: Cancer Discov Date: 2013-01-09 Impact factor: 39.397