Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.
Jones David T W, Hutter Barbara, Jäger Natalie, Korshunov Andrey, Kool Marcel, Warnatz Hans-Jörg, Zichner Thomas, Lambert Sally R, Ryzhova Marina, Quang Dong Anh Khuong, Fontebasso Adam M, Stütz Adrian M, Hutter Sonja, Zuckermann Marc, Sturm Dominik, Gronych Jan, Lasitschka Bärbel, Schmidt Sabine, Seker-Cin Huriye, Witt Hendrik, Sultan Marc, Ralser Meryem, Northcott Paul A, Hovestadt Volker, Bender Sebastian, Pfaff Elke, Stark Sebastian, Faury Damien, Schwartzentruber Jeremy, Majewski Jacek, Weber Ursula D, Zapatka Marc, Raeder Benjamin, Schlesner Matthias, Worth Catherine L, Bartholomae Cynthia C, von Kalle Christof, Imbusch Charles D, Radomski Sylwester, Lawerenz Chris, van Sluis Peter, Koster Jan, Volckmann Richard, Versteeg Rogier, Lehrach Hans, Monoranu Camelia, Winkler Beate, Unterberg Andreas, Herold-Mende Christel, Milde Till, Kulozik Andreas E, Ebinger Martin, Schuhmann Martin U, Cho Yoon-Jae, Pomeroy Scott L, von Deimling Andreas, Witt Olaf, Taylor Michael D, Wolf Stephan, Karajannis Matthias A, Eberhart Charles G, Scheurlen Wolfram, Hasselblatt Martin, Ligon Keith L, Kieran Mark W, Korbel Jan O, Yaspo Marie-Laure, Brors Benedikt, Felsberg Jörg, Reifenberger Guido, Collins V Peter, Jabado Nada, Eils Roland, Lichter Peter, Pfister Stefan M, International Cancer Genome Consortium PedBrain Tumor Project
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди
Аннотация
Pilocytic astrocytoma, the most common childhood brain tumor, is typically associated with mitogen-activated protein kinase (MAPK) pathway alterations. Surgically inaccessible midline tumors are therapeutically challenging, showing sustained tendency for progression and often becoming a chronic disease with substantial morbidities. Here we describe whole-genome sequencing of 96 pilocytic astrocytomas, with matched RNA sequencing (n = 73), conducted by the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project. We identified recurrent activating mutations in FGFR1 and PTPN11 and new NTRK2 fusion genes in non-cerebellar tumors. New BRAF-activating changes were also observed. MAPK pathway alterations affected all tumors analyzed, with no other significant mutations identified, indicating that pilocytic astrocytoma is predominantly a single-pathway disease. Notably, we identified the same FGFR1 mutations in a subset of H3F3A-mutated pediatric glioblastoma with additional alterations in the NF1 gene. Our findings thus identify new potential therapeutic targets in distinct subsets of pilocytic astrocytoma and childhood glioblastoma.
Для цитирования: Jones David T W, Hutter Barbara, Jäger Natalie, Korshunov Andrey, Kool Marcel, Warnatz Hans-Jörg, Zichner Thomas, Lambert Sally R, Ryzhova Marina, Quang Dong Anh Khuong, Fontebasso Adam M, Stütz Adrian M, Hutter Sonja, Zuckermann Marc, Sturm Dominik, Gronych Jan, Lasitschka Bärbel, Schmidt Sabine, Seker-Cin Huriye, Witt Hendrik, Sultan Marc, Ralser Meryem, Northcott Paul A, Hovestadt Volker, Bender Sebastian, Pfaff Elke, Stark Sebastian, Faury Damien, Schwartzentruber Jeremy, Majewski Jacek, Weber Ursula D, Zapatka Marc, Raeder Benjamin, Schlesner Matthias, Worth Catherine L, Bartholomae Cynthia C, von Kalle Christof, Imbusch Charles D, Radomski Sylwester, Lawerenz Chris, van Sluis Peter, Koster Jan, Volckmann Richard, Versteeg Rogier, Lehrach Hans, Monoranu Camelia, Winkler Beate, Unterberg Andreas, Herold-Mende Christel, Milde Till, Kulozik Andreas E, Ebinger Martin, Schuhmann Martin U, Cho Yoon-Jae, Pomeroy Scott L, von Deimling Andreas, Witt Olaf, Taylor Michael D, Wolf Stephan, Karajannis Matthias A, Eberhart Charles G, Scheurlen Wolfram, Hasselblatt Martin, Ligon Keith L, Kieran Mark W, Korbel Jan O, Yaspo Marie-Laure, Brors Benedikt, Felsberg Jörg, Reifenberger Guido, Collins V Peter, Jabado Nada, Eils Roland, Lichter Peter, Pfister Stefan M, International Cancer Genome Consortium PedBrain Tumor Project. Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.. Nature genetics. 2013. DOI: 10.1038/ng.2682.
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