| Clinical neuropathology practice news 2-2012: BRAF V600E testing. | |
| | |
MedLine Citation:
|
PMID: 22385786 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Activating mutations of the serine threonine kinase v-RAF murine sarcoma viral oncogene homologue B1 (BRAF), most commonly of the V600E type, are found in a wide range of human neoplasms including primary and secondary brain tumors. Therapeutic BRAF inhibitors have shown clinically meaningful activity, particularly in metastatic BRAF V600E mutated melanoma including patients with brain metastases. Therefore, in current neuropathological practice BRAF testing is of clinical importance in tissue samples of melanoma brain metastases in order to identify cases amenable to therapy with BRAF inhibitors. BRAF mutation testing may also add additional information for differential diagnosis of primary brain tumors in selected situations, e.g., for differentiation of anaplastic pleomorphic xanthoastrocytoma (BRAF V600E mutation in 65%) from glioblastoma (BRAF V600E mutation in < 5%). The BRAF mutation status can be tested with DNA-based methods and immunohistochemistry using a V600E mutation-specific antibody. In summary, at this point BRAF V600E testing is clinically indicated in relatively few cases of the daily clinical neuropathology practice, but has important predictive implications for patients with melanoma brain metastases. Depending on the results of additional clinical studies, determination of BRAF mutation status may become clinically relevant also for primary brain tumors such as glioblastoma in the future. |
| | |
Authors:
|
David Capper; Anna-Sophie Berghoff; Andreas von Deimling; Matthias Preusser |
Related Documents
:
|
9560376 - Differential response of mouse male germ-cell stages to radiation-induced specific-locu... 9491396 - Strand-specific mutation induction by 1,2-dibromomethane at the hypoxanthine-guanine ph... 2358296 - Molecular analyses of a lesch-nyhan syndrome mutation (hprtmontreal) by use of t-lympho... 4047086 - Interaction of uv and n-methyl-n'-nitro-n-nitrosoguanidine: cytotoxicity and mutagenici... 12967826 - A novel rdh5 gene mutation in a patient with fundus albipunctatus presenting with macul... 15029236 - Cost-effective analysis of candidate genes using htsnps: a staged approach. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Clinical neuropathology Volume: 31 ISSN: 0722-5091 ISO Abbreviation: Clin. Neuropathol. Publication Date: 2012 Mar-Apr |
Date Detail:
|
Created Date: 2012-03-05 Completed Date: 2012-07-19 Revised Date: 2012-08-13 |
Medline Journal Info:
|
Nlm Unique ID: 8214420 Medline TA: Clin Neuropathol Country: Germany |
Other Details:
|
Languages: eng Pagination: 64-6 Citation Subset: IM |
Affiliation:
|
Department of Neuropathology, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Astrocytoma
/
diagnosis*,
genetics,
pathology Brain Neoplasms / diagnosis*, genetics, pathology Genetic Testing* Humans Melanoma / diagnosis*, genetics, secondary Mutation Proto-Oncogene Proteins B-raf / genetics* |
| Chemical | |
Reg. No./Substance:
|
EC 2.7.11.1/BRAF protein, human; EC 2.7.11.1/Proto-Oncogene Proteins B-raf |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Amiodarone-associated optic neuropathy: a critical review.
Next Document: Pathologic diversity of glioneuronal tumor with neuropil-like islands: A histological and immunohist...