2 documents found, page 1 of 1
Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas
Guerreiro Stucklin, Ana S.; Ryall, Scott; Fukuoka, Kohei; Zapotocky, Michal; Lassaletta, Alvaro; Li, Christopher; Bridge, Taylor; Kim, ByungjinInfant gliomas have paradoxical clinical behavior compared to those in children and adults: low-grade tumors have a higher mortality rate, while high-grade tumors have a better outcome. However, we have little understanding of their biology and therefore cannot explain this behavior nor what constitutes optimal clinical management. Here we report a comprehensive genetic analysis of an international cohort of cl...
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medullobla...
Suzuki, Hiromichi; Kumar, Sachin A.; Shuai, Shimin; Diaz-Navarro, Ander; Gutierrez-Fernandez, Ana; De Antonellis, Pasqualino; Cavalli, Florence M. G.In cancer, recurrent somatic single-nucleotide variants-which are rare in most paediatric cancers-are confined largely to protein-coding genes1-3. Here we report highly recurrent hotspot mutations (r.3A>G) of U1 spliceosomal small nuclear RNAs (snRNAs) in about 50% of Sonic hedgehog (SHH) medulloblastomas. These mutations were not present across other subgroups of medulloblastoma, and we identified these hotspo...