BRAF V600E mutation
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The BRAF V600E mutation, also BRAF V600E, is a common recurrent mutation in the BRAF gene that is seen in many types of tumours and cancer.[1]
BRAF V600E positivity in malignant melanoma. VE1 immunostain.
A more general discussion about BRAF is in BRAF mutation.
General
The BRAF gene, formally known as v-RAF murine sarcoma viral oncogene homolog B1, is a serine threonine kinase.[2]
The mutation can be demonstrated with molecular testing (ARMS). Also, a mutation specific immunostain (VE1) is available.[1]
Positive
Commonly mutated
- Malignant melanoma (55%).[3]
- Papillary thyroid carcinoma (79%).[4]
- Ganglioglioma (58%).[5]
- Pleomorphic xanthoastrocytoma (78%).[6]
- Hairy cell leukemia (>90%)
- Histiocytic disorders: Langerhans cell histiocytosis and Erdheim-Chester disease
- Metanephric adenoma [7][8]
Less commonly mutated
- Colorectal cancer (5.5%).[3]
- Associated with MSI - specifically MLH1 loss in MMR testing.[9]
- Ovarian cancer (7%).[3]
- Lung adenocarcinoma (5%).[10]
- Endosalpingiosis, especially those with synchronous or metachronous low grade serous neoplasms (up to 8/21).[11]
See also
References
- ↑ 1.0 1.1 Capper, D.; Preusser, M.; Habel, A.; Sahm, F.; Ackermann, U.; Schindler, G.; Pusch, S.; Mechtersheimer, G. et al. (Jul 2011). "Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody.". Acta Neuropathol 122 (1): 11-9. doi:10.1007/s00401-011-0841-z. PMID 21638088.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 164757
- ↑ 3.0 3.1 3.2 Capper, D.; Berghoff, AS.; Magerle, M.; Ilhan, A.; Wöhrer, A.; Hackl, M.; Pichler, J.; Pusch, S. et al. (Feb 2012). "Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases.". Acta Neuropathol 123 (2): 223-33. doi:10.1007/s00401-011-0887-y. PMID 22012135.
- ↑ Ilie, MI.; Lassalle, S.; Long-Mira, E.; Bonnetaud, C.; Bordone, O.; Lespinet, V.; Lamy, A.; Sabourin, JC. et al. (May 2014). "Diagnostic value of immunohistochemistry for the detection of the BRAF(V600E) mutation in papillary thyroid carcinoma: comparative analysis with three DNA-based assays.". Thyroid 24 (5): 858-66. doi:10.1089/thy.2013.0302. PMID 24417277.
- ↑ Koelsche, C.; Wöhrer, A.; Jeibmann, A.; Schittenhelm, J.; Schindler, G.; Preusser, M.; Lasitschka, F.; von Deimling, A. et al. (Jun 2013). "Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells.". Acta Neuropathol 125 (6): 891-900. doi:10.1007/s00401-013-1100-2. PMID 23435618.
- ↑ Koelsche, C.; Sahm, F.; Wöhrer, A.; Jeibmann, A.; Schittenhelm, J.; Kohlhof, P.; Preusser, M.; Romeike, B. et al. (Apr 2014). "BRAF-mutated pleomorphic xanthoastrocytoma is associated with temporal location, reticulin fiber deposition and CD34 expression.". Brain Pathol 24 (3): 221-9. doi:10.1111/bpa.12111. PMID 24345274.
- ↑ Choueiri, TK.; Cheville, J.; Palescandolo, E.; Fay, AP.; Kantoff, PW.; Atkins, MB.; McKenney, JK.; Brown, V. et al. (Nov 2012). "BRAF mutations in metanephric adenoma of the kidney.". Eur Urol 62 (5): 917-22. doi:10.1016/j.eururo.2012.05.051. PMID 22727996.
- ↑ Udager, AM.; Pan, J.; Magers, MJ.; Palapattu, GS.; Morgan, TM.; Montgomery, JS.; Weizer, AZ.; Hafez, KS. et al. (Apr 2015). "Molecular and immunohistochemical characterization reveals novel BRAF mutations in metanephric adenoma.". Am J Surg Pathol 39 (4): 549-57. doi:10.1097/PAS.0000000000000377. PMID 25602792.
- ↑ Zaanan A, Bachet JB, André T, Sinicrope FA (September 2014). "Prognostic Impact of Deficient DNA Mismatch Repair and Mutations in KRAS, and BRAFV600E in Patients with Lymph Node-Positive Colon Cancer". Curr Colorectal Cancer Rep 10 (3): 346–353. doi:10.1007/s11888-014-0237-2. PMC 4224319. PMID 25386108. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4224319/.
- ↑ Ilie, M.; Long, E.; Hofman, V.; Dadone, B.; Marquette, CH.; Mouroux, J.; Vignaud, JM.; Begueret, H. et al. (Mar 2013). "Diagnostic value of immunohistochemistry for the detection of the BRAFV600E mutation in primary lung adenocarcinoma Caucasian patients.". Ann Oncol 24 (3): 742-8. doi:10.1093/annonc/mds534. PMID 23131393.
- ↑ Chui MH, Shih IM (February 2020). "Oncogenic BRAF and KRAS mutations in endosalpingiosis". J Pathol 250 (2): 148–158. doi:10.1002/path.5353. PMID 31576556.