4 documents found, page 1 of 1
The transcriptional landscape of Shh medulloblastoma
Skowron, Patryk; Farooq, Hamza; Cavalli, Florence M. G.; Morrissy, A. Sorana; Ly, Michelle; Hendrikse, Liam D.; Wang, Evan Y.; Djambazian, HaigSonic hedgehog medulloblastoma encompasses a clinically and molecularly diverse group of cancers of the developing central nervous system. Here, we use unbiased sequencing of the transcriptome across a large cohort of 250 tumors to reveal differences among molecular subtypes of the disease, and demonstrate the previously unappreciated importance of non-coding RNA transcripts. We identify alterations within the ...
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...
Prognostic stratification of adult primary glioblastoma multiforme patients bas...
González-Tablas, María; Crespo, Inês; Vital, Ana Luísa; Otero, Álvaro; Nieto, Ana Belén; Sousa, Pablo; Patino-Alonso, María CarmenSeveral classification systems have been proposed to address genomic heterogeneity of glioblastoma multiforme, but they either showed limited prognostic value and/or are difficult to implement in routine diagnostics. Here we propose a prognostic stratification model for these primary tumors based on tumor gene amplification profiles, that might be easily implemented in routine diagnostics, and potentially impro...
WNT activation by lithium abrogates TP53 mutation associated radiation resistan...
Zhukova, Nataliya; Ramaswamy, Vijay; Remke, Marc; Martin, Dianna C.; Castelo-Branco, Pedro; Zhang, Cindy H.; Fraser, Michael; Tse, Ken; Poon, RaymondTP53 mutations confer subgroup specific poor survival for children with medulloblastoma. We hypothesized that WNT activation which is associated with improved survival for such children abrogates TP53 related radioresistance and can be used to sensitize TP53 mutant tumors for radiation. We examined the subgroup-specific role of TP53 mutations in a cohort of 314 patients treated with radiation. TP53 wild-type or...