A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas

oleh: Shai Rosenberg, Iva Simeonova, Franck Bielle, Maite Verreault, Bertille Bance, Isabelle Le Roux, Mailys Daniau, Arun Nadaradjane, Vincent Gleize, Sophie Paris, Yannick Marie, Marine Giry, Marc Polivka, Dominique Figarella-Branger, Marie-Hélène Aubriot-Lorton, Chiara Villa, Alexandre Vasiljevic, Emmanuèle Lechapt-Zalcman, Michel Kalamarides, Ariane Sharif, Karima Mokhtari, Stefano Maria Pagnotta, Antonio Iavarone, Anna Lasorella, Emmanuelle Huillard, Marc Sanson

Format: Article
Diterbitkan: Nature Portfolio 2018-06-01

Deskripsi

Chordoid glioma is a slow growing diencephalic tumor whose mutational landscape is poorly characterized. Here, the authors perform whole-exome and RNA-sequencing and find that 15 of 16 chordoid glioma cases studied harbor the same PRKCA mutation which results in enhanced proliferation.