TY  - JOUR
AU  - Wang, Anthony C
AU  - Jones, David
AU  - Abecassis, Isaac Joshua
AU  - Cole, Bonnie L
AU  - Leary, Sarah E S
AU  - Lockwood, Christina M
AU  - Chavez, Lukas
AU  - Capper, David
AU  - Korshunov, Andrey
AU  - Fallah, Aria
AU  - Wang, Shelly
AU  - Ene, Chibawanye
AU  - Olson, James M
AU  - Geyer, J Russell
AU  - Holland, Eric C
AU  - Lee, Amy
AU  - Ellenbogen, Richard G
AU  - Ojemann, Jeffrey G
TI  - Desmoplastic Infantile Ganglioglioma/Astrocytoma (DIG/DIA) Are Distinct Entities with Frequent BRAFV600 Mutations.
JO  - Molecular cancer research
VL  - 16
IS  - 10
SN  - 1541-7786
CY  - Philadelphia, Pa.
PB  - AACR
M1  - DKFZ-2018-01675
SP  - 1491 - 1498
PY  - 2018
AB  - Desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA) are extremely rare tumors that typically arise in infancy; however, these entities have not been well characterized in terms of genetic alterations or clinical outcomes. Here, through a multi-institutional collaboration, the largest cohort of DIG/DIA to date is examined using advanced laboratory and data processing techniques. Targeted DNA exome sequencing and DNA methylation profiling were performed on tumor specimens obtained from different patients (n = 8) diagnosed histologically as DIG/DIGA. Two of these cases clustered with other tumor entities, and were excluded from analysis. The remaining 16 cases were confirmed to be DIG/DIA by histology and by DNA methylation profiling. Somatic BRAF gene mutations were discovered in 7 instances (43.8
LB  - PUB:(DE-HGF)16
C6  - pmid:30006355
DO  - DOI:10.1158/1541-7786.MCR-17-0507
UR  - https://inrepo02.dkfz.de/record/141144
ER  -