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A novel, potentially targetable TMEM106B-BRAF fusion in pleomorphic xanthoastrocytoma
- Source :
- Cold Spring Harbor Molecular Case Studies
- Publication Year :
- 2017
- Publisher :
- Cold Spring Harbor Laboratory Press, 2017.
-
Abstract
- Pleomorphic xanthoastrocytoma (PXA) is a World Health Organization (WHO) Grade II glioma occurring primarily in children and young adults. Most PXAs harbor the known activating mutation BRAF V600E. We report a case of locally recurrent PXA with anaplastic features in a 10-yr-old female. The PXA was negative by immunohistochemical (IHC) staining for BRAF V600E mutation. Whole-exome and transcriptome sequencing of the tumor confirmed the absence of BRAF V600E, but identified copy-number alterations (including loss of the tumor suppressor CDKN2A) and a novel TMEM106B-BRAF fusion. Based on similar BRAF fusion proteins, this novel fusion is predicted to result in activation of BRAF signaling. Demonstration of positive IHC for phospho-ERK1/2 and phospho-MEK1/2 supported this prediction, and implicated MEK inhibitors as a potential therapeutic strategy.
- Subjects :
- 0301 basic medicine
Proto-Oncogene Proteins B-raf
endocrine system diseases
Biology
Astrocytoma
medicine.disease_cause
World health
law.invention
03 medical and health sciences
0302 clinical medicine
law
CDKN2A
Exome Sequencing
medicine
Grade II Glioma
Humans
Child
neoplasms
neoplasm of the central nervous system
Pleomorphic xanthoastrocytoma
Mutation
Brain Neoplasms
General Medicine
Glioma
medicine.disease
Fusion protein
digestive system diseases
030104 developmental biology
030220 oncology & carcinogenesis
Cancer research
Immunohistochemistry
Suppressor
Female
Rapid Cancer Communication
Subjects
Details
- Language :
- English
- ISSN :
- 23732873
- Volume :
- 3
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Cold Spring Harbor Molecular Case Studies
- Accession number :
- edsair.doi.dedup.....fa6c1ecc7cb735add586d07128528e47