ID
45439
Descripción
Principal Investigator: Keith L. Ligon, MD, PhD, Dana-Farber Cancer Institute, Boston Children's Hospital, MA, USA MeSH: Astrocytoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000614 Pediatric low-grade gliomas (PLGGs) are among the most common solid tumors in children but, apart from mutations or duplications in the BRAF kinase in specific subclasses, few genetic driver events are known. Diffuse PLGGs compose a set of uncommon subtypes that exhibit invasive growth and are therefore especially challenging clinically. These tumors are particularly poorly understood. We performed high-resolution copy-number analysis of 44 diffuse PLGGs to identify recurrent alterations. Diffuse PLGGs exhibited fewer such alterations than adult low-grade gliomas, but we identified several significantly recurrent events. The most significant event, 8q13.1 gains, was observed in 28% of diffuse astrocytoma WHO grade II (DA2) and resulted in partial duplication of the transcription factor MYBL1 with truncation of its C-terminal negative-regulatory domain. A similar recurrent deletion-truncation breakpoint was identified in two angiocentric gliomas in the related gene MYB on 6q23.3. Whole genome sequencing of a MYBL1-rearranged diffuse astrocytoma grade II demonstrated MYBL1 tandem duplication and few other events. Two truncated MYBL1 transcripts identified in this tumor induced anchorage-independent growth when expressed in 3T3 cells and tumor formation in nude mice. Truncated transcripts were also expressed in two additional tumors with MYBL1 partial duplication. Our results define clinically relevant molecular subclasses of diffuse PLGGs and highlight a potential role for the MYB family in the biology of low-grade gliomas. "Reprinted from www.pnas.org/cgi/doi/10.1073/pnas.1300252110 with permission from PNAS."
Link
Palabras clave
Versiones (1)
- 4/12/22 4/12/22 - Chiara Middel
Titular de derechos de autor
Keith L. Ligon, MD, PhD, Dana-Farber Cancer Institute, Boston Children's Hospital, MA, USA
Subido en
4 de diciembre de 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000614 Genomic Analysis of Pediatric Low Grade Gliomas
Sample ID, analyte type, tumor status of samples [tumor, normal tissue], histological type of samples, body site where sample was obtained, and if sample was obtained from recurrent tumor of participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
- Subject ID, sample ID, and sample use variable obtained from participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
- Sample ID and GEO accession ID of samples obtained from participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
- Subject ID, age, and sex of participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
- Sample ID, analyte type, tumor status of samples [tumor, normal tissue], histological type of samples, body site where sample was obtained, and if sample was obtained from recurrent tumor of participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
Similar models
Sample ID, analyte type, tumor status of samples [tumor, normal tissue], histological type of samples, body site where sample was obtained, and if sample was obtained from recurrent tumor of participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
- Subject ID, sample ID, and sample use variable obtained from participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
- Sample ID and GEO accession ID of samples obtained from participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
- Subject ID, age, and sex of participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
- Sample ID, analyte type, tumor status of samples [tumor, normal tissue], histological type of samples, body site where sample was obtained, and if sample was obtained from recurrent tumor of participant with low grade glioma and involved in the "Genomic Analysis of Pediatric Low Grade Gliomas" project.
C1299222 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,2])
C0007634 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
C2347026 (UMLS CUI [2,1])
C0007634 (UMLS CUI [2,2])
C0449560 (UMLS CUI [2,3])
C1292533 (UMLS CUI [3,1])
C0332307 (UMLS CUI [3,2])
C1292533 (UMLS CUI [4,1])
C0449560 (UMLS CUI [4,2])