Article
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
Nature genetics - 1 May 2014
Fontebasso Adam M, Papillon-Cavanagh Simon, Schwartzentruber Jeremy, Nikbakht Hamid, Gerges Noha, Fiset Pierre-Olivier, Bechet Denise, Faury Damien, De Jay Nicolas, Ramkissoon Lori A, Corcoran Aoife, Jones David T W, Sturm Dominik, Johann Pascal, Tomita Tadanori, Goldman Stewart, Nagib Mahmoud, Bendel Anne, Goumnerova Liliana, Bowers Daniel C, Leonard Jeffrey R, Rubin Joshua B, Alden Tord, Browd Samuel, Geyer J Russell, Leary Sarah, Jallo George, Cohen Kenneth, Gupta Nalin, Prados Michael D, Carret Anne-Sophie, Ellezam Benjamin, Crevier Louis, Klekner Almos, Bognar Laszlo, Hauser Peter, Garami Miklos, Myseros John, Dong Zhifeng, Siegel Peter M, Malkin Hayley, Ligon Azra H, Albrecht Steffen, Pfister Stefan M, Ligon Keith L, Majewski Jacek, Jabado Nada, Kieran Mark W
Abstract excerpt
Pediatric midline high-grade astrocytomas (mHGAs) are incurable with few treatment targets identified. Most tumors harbor mutations encoding p.Lys27Met in histone H3 variants. In 40 treatment-naive mHGAs, 39 analyzed by whole-exome sequencing, we find additional somatic mutations specific to tumor location. Gain-of-function mutations in ACVR1 occur in tumors of the pons in conjunction with histone H3.1 p.Lys27Met...
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