BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma

C. Koelsche; F. Sahm; W. Paulus; M. Mittelbronn; F. Giangaspero; M. Antonelli; J. Meyer; F. Lasitschka; A. von Deimling; D. Reuss

doi:10.1111/nan.12072

BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma

C. Koelsche, F. Sahm, W. Paulus, M. Mittelbronn, F. Giangaspero, M. Antonelli, J. Meyer, F. Lasitschka, A. von Deimling, D. Reuss^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Research › peer-review

46 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	337-344
Number of pages	8
Journal	Neuropathology and Applied Neurobiology
Volume	40
Issue number	3
DOIs	https://doi.org/10.1111/nan.12072
Publication status	Published - Apr 2014
Externally published	Yes

Keywords

BRAF V600E
Desmoplastic infantile astrocytoma
Desmoplastic infantile ganglioglioma
Glioma
Immunohistochemistry
VE1

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10.1111/nan.12072

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title = "BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma",

abstract = "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.",

keywords = "BRAF V600E, Desmoplastic infantile astrocytoma, Desmoplastic infantile ganglioglioma, Glioma, Immunohistochemistry, VE1",

author = "C. Koelsche and F. Sahm and W. Paulus and M. Mittelbronn and F. Giangaspero and M. Antonelli and J. Meyer and F. Lasitschka and {von Deimling}, A. and D. Reuss",

year = "2014",

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doi = "10.1111/nan.12072",

language = "English",

volume = "40",

pages = "337--344",

journal = "Neuropathology and Applied Neurobiology",

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T1 - BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma

AU - Koelsche, C.

AU - Sahm, F.

AU - Paulus, W.

AU - Mittelbronn, M.

AU - Giangaspero, F.

AU - Antonelli, M.

AU - Meyer, J.

AU - Lasitschka, F.

AU - von Deimling, A.

AU - Reuss, D.

PY - 2014/4

Y1 - 2014/4

N2 - 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.

AB - 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.

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KW - Desmoplastic infantile ganglioglioma

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KW - Immunohistochemistry

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BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma

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