Journal article
DNMT3A co-mutation in an IDH1-mutant glioblastoma
Cold Spring Harbor molecular case studies, v 5(4), 004119
01 Aug 2019
PMID: 31371348
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Glioblastomas are highly aggressive, infiltrative, and genetically heterogeneous primary brain tumors that arise de novo or secondarily progress over time from low-grade tumors. Along with well-established signature mutational profiles, emerging research suggests that the epigenetic tumor landscape plays an important role in gliomagenesis via transcriptional regulation, DNA methylation, and histone modifications. The pursuit of targeted therapeutic approaches, based not only on expression profiles but also on somatic mutations, is fundamental to the effort of improving survival in patients with glioblastoma. Here, we describe a missense DNMT3A p.P904S mutation in an IDH1-mutant glioblastoma. Although never previously reported in gliomas, this mutation is predicted to be pathogenic and has been reported in several other malignancies. Our report suggests that elucidating epigenetic control is important to understanding glioblastoma biology and may likely unveil targets potentially important to glioblastoma treatment in an effort to improve survival.
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Details
- Title
- DNMT3A co-mutation in an IDH1-mutant glioblastoma
- Creators
- Elena Fomchenko - Yale UniversityE. Zeynep Erson-Omay - Yale UniversityAmy Zhao - Yale UniversityRanjit S. Bindra - Yale UniversityAnita Huttner - Yale UniversityRobert K. Fulbright - Yale UniversityJennifer Moliterno - Yale University
- Publication Details
- Cold Spring Harbor molecular case studies, v 5(4), 004119
- Publisher
- Cold Spring Harbor Lab Press, Publications Dept
- Number of pages
- 10
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Neurology
- Web of Science ID
- WOS:000478665400011
- Scopus ID
- 2-s2.0-85070747889
- Other Identifier
- 991022004952104721
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- Web of Science research areas
- Medicine, Research & Experimental