Characterizing temporal genomic heterogeneity in pediatric low-grade gliomas.
Adolescent
Brain Neoplasms
/ genetics
Child
Child, Preschool
Cyclin-Dependent Kinase Inhibitor p16
/ genetics
Disease Progression
Female
Gene Deletion
Genome
Genomics
Glioma
/ genetics
Humans
Infant
Isocitrate Dehydrogenase
/ genetics
Male
Membrane Glycoproteins
/ genetics
Neoplasm Grading
Neoplasm Recurrence, Local
/ genetics
Proto-Oncogene Proteins
/ genetics
Proto-Oncogene Proteins B-raf
/ genetics
Proto-Oncogene Proteins c-myb
/ genetics
Receptor, Fibroblast Growth Factor, Type 1
/ genetics
Receptor, trkB
/ genetics
Trans-Activators
/ genetics
BRAF
CDKN2A
Genomics
Paired
Pediatric low-grade gliomas
Recurrence
Tumor evolution
Journal
Acta neuropathologica communications
ISSN: 2051-5960
Titre abrégé: Acta Neuropathol Commun
Pays: England
ID NLM: 101610673
Informations de publication
Date de publication:
05 11 2020
05 11 2020
Historique:
received:
25
08
2020
accepted:
10
10
2020
entrez:
6
11
2020
pubmed:
7
11
2020
medline:
11
11
2021
Statut:
epublish
Résumé
Recent discoveries have provided valuable insight into the genomic landscape of pediatric low-grade gliomas (LGGs) at diagnosis, facilitating molecularly targeted treatment. However, little is known about their temporal and therapy-related genomic heterogeneity. An adequate understanding of the evolution of pediatric LGGs' genomic profiles over time is critically important in guiding decisions about targeted therapeutics and diagnostic biopsy at recurrence. Fluorescence in situ hybridization, mutation-specific immunohistochemistry, and/or targeted sequencing were performed on paired tumor samples from primary diagnostic and subsequent surgeries. Ninety-four tumor samples from 45 patients (41 with two specimens, four with three specimens) from three institutions underwent testing. Conservation of BRAF fusion, BRAF
Identifiants
pubmed: 33153497
doi: 10.1186/s40478-020-01054-w
pii: 10.1186/s40478-020-01054-w
pmc: PMC7643477
doi:
Substances chimiques
CDKN2A protein, human
0
Cyclin-Dependent Kinase Inhibitor p16
0
MYB protein, human
0
MYBL1 protein, human
0
Membrane Glycoproteins
0
Proto-Oncogene Proteins
0
Proto-Oncogene Proteins c-myb
0
Trans-Activators
0
Isocitrate Dehydrogenase
EC 1.1.1.41
IDH1 protein, human
EC 1.1.1.42.
FGFR1 protein, human
EC 2.7.10.1
Receptor, Fibroblast Growth Factor, Type 1
EC 2.7.10.1
Receptor, trkB
EC 2.7.10.1
tropomyosin-related kinase-B, human
EC 2.7.10.1
BRAF protein, human
EC 2.7.11.1
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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