Genomics

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Location specific ACVR1, FGFR1 and TP53 mutations in pediatric glioblastomas in conjunction with H3.3 K27M.

ABSTRACT: Recurrent somatic H3 K27M mutations characterize midline pediatric high-grade astrocytomas (pHGAs). In 40 treatment-naïve midline pHGAs we find additional somatic mutations specific to tumor location. Gain-of-function mutations in ACVR1 occur in tumors of the pons in conjunction with H3.1K27M, while FGFR1 mutations/fusions occur in thalamic tumors in conjunction with H3.3 K27M. Genetic profiles of pHGA show actionable targets, suggesting that pre-treatment biopsy could effectively orient therapeutic efforts.

PROVIDER: EGAS00001000720 | EGA |

REPOSITORIES: EGA

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Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.

Fontebasso Adam M AM   Papillon-Cavanagh Simon S   Schwartzentruber Jeremy J   Nikbakht Hamid H   Gerges Noha N   Fiset Pierre-Olivier PO   Bechet Denise D   Faury Damien D   De Jay Nicolas N   Ramkissoon Lori A LA   Corcoran Aoife A   Jones David T W DT   Sturm Dominik D   Johann Pascal P   Tomita Tadanori T   Goldman Stewart S   Nagib Mahmoud M   Bendel Anne A   Goumnerova Liliana L   Bowers Daniel C DC   Leonard Jeffrey R JR   Rubin Joshua B JB   Alden Tord T   Browd Samuel S   Geyer J Russell JR   Leary Sarah S   Jallo George G   Cohen Kenneth K   Gupta Nalin N   Prados Michael D MD   Carret Anne-Sophie AS   Ellezam Benjamin B   Crevier Louis L   Klekner Almos A   Bognar Laszlo L   Hauser Peter P   Garami Miklos M   Myseros John J   Dong Zhifeng Z   Siegel Peter M PM   Malkin Hayley H   Ligon Azra H AH   Albrecht Steffen S   Pfister Stefan M SM   Ligon Keith L KL   Majewski Jacek J   Jabado Nada N   Kieran Mark W MW  

Nature genetics 20140406 5

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 substitution, whereas FGFR1 mutations or fusions occur in thalamic tumors associate  ...[more]

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