AIMS: Desmoplastic infantile astrocytoma/ganglioglioma (DIA/DIG) is a rare primary neuroepithelial brain tumour typically affecting paediatric patients younger than 24 months. Knowledge about genetic alterations in DIA/DIG is limited. However, a previous study on BRAF V600E mutation in paediatric glioma revealed a BRAF mutation in one of two tested DIAs/DIGs. The limited number of cases in that study did not allow any conclusion about mutation frequency of BRAF in this tumour entity. METHODS: We collected a series of 18 DIAs/DIGs for testing BRAF V600E mutational status by BRAF V600E immunohistochemistry (clone VE1). Cases with sufficient DNA were tested for BRAF V600E mutation by pyrosequencing. RESULTS: Three out of 18 DIAs/DIGs presented with VE1 binding. A considerable proportion of BRAF V600E mutated tumour cells was detected in the cortical tumour component, whereas the pronounced leptomeningeal tumoural stroma was predominantly negative for VE1 binding. Pyrosequencing confirmed BRAF V600E mutation in two of three VE1-positive cases. CONCLUSION: BRAF V600E mutation affects a subset of DIAs/DIGs and offers new therapeutic opportunities.
AIMS: Desmoplastic infantile astrocytoma/ganglioglioma (DIA/DIG) is a rare primary neuroepithelial brain tumour typically affecting paediatric patients younger than 24 months. Knowledge about genetic alterations in DIA/DIG is limited. However, a previous study on BRAFV600E mutation in paediatric glioma revealed a BRAF mutation in one of two tested DIAs/DIGs. The limited number of cases in that study did not allow any conclusion about mutation frequency of BRAF in this tumour entity. METHODS: We collected a series of 18 DIAs/DIGs for testing BRAFV600E mutational status by BRAFV600E immunohistochemistry (clone VE1). Cases with sufficient DNA were tested for BRAFV600E mutation by pyrosequencing. RESULTS: Three out of 18 DIAs/DIGs presented with VE1 binding. A considerable proportion of BRAFV600E mutated tumour cells was detected in the cortical tumour component, whereas the pronounced leptomeningeal tumoural stroma was predominantly negative for VE1 binding. Pyrosequencing confirmed BRAFV600E mutation in two of three VE1-positive cases. CONCLUSION:BRAFV600E mutation affects a subset of DIAs/DIGs and offers new therapeutic opportunities.
Authors: Ghassan Abuharbid; Majid Esmaeilzadeh; Christian Hartmann; Elvis J Hermann; Joachim K Krauss Journal: Childs Nerv Syst Date: 2015-11-19 Impact factor: 1.475
Authors: Ghassan Abuharbid; Majid Esmaeilzadeh; Christian Hartmann; Elvis J Hermann; Joachim K Krauss Journal: Childs Nerv Syst Date: 2015-05-01 Impact factor: 1.475
Authors: Norman L Lehman; Eyas M Hattab; Bret C Mobley; Aisulu Usubalieva; Matthew J Schniederjan; Roger E McLendon; Werner Paulus; Elisabeth J Rushing; Maria-Magdalena Georgescu; Marta Couce; Mohanpal S Dulai; Mark L Cohen; Christopher R Pierson; Jack M Raisanen; Sarah E Martin; Trang D Lehman; Eric S Lipp; Jose M Bonnin; Mousa A Al-Abbadi; Kara Kenworthy; Kevin Zhao; Nehad Mohamed; Guojuan Zhang; Weiqiang Zhao Journal: Neuro Oncol Date: 2016-07-14 Impact factor: 12.300
Authors: Ashley Greer; Nicholas K Foreman; Andrew Donson; Kurtis D Davies; B K Kleinschmidt-DeMasters Journal: Pediatr Blood Cancer Date: 2016-11-10 Impact factor: 3.167