Difference between revisions of "BRAF V600E mutation"

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[[Image:BRAF_V600E_mutant_melanoma.jpg|thumb|200px|right|BRAF V600E staining in [[malignant melanoma]].]]
[[Image:BRAF_V600E_mutant_melanoma.jpg|thumb|300px|right|BRAF V600E positivity in [[malignant melanoma]]. VE1 immunostain.]]
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]].<ref name=pmid21638088/>   
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]].<ref name=pmid21638088/>   


''BRAF gene'', formally known as ''v-RAF murine sarcoma viral oncogene homolog B1'', is a serine threonine kinase.<ref>{{OMIM|164757}}</ref>
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.<ref>{{OMIM|164757}}</ref>


The mutation can be demonstrated with [[Molecular pathology tests|molecular testing]] ([[ARMS]]). Also, a mutation specific [[immunostain]] (''VE1'') is available.<ref name=pmid21638088>{{Cite journal  | last1 = Capper | first1 = D. | last2 = Preusser | first2 = M. | last3 = Habel | first3 = A. | last4 = Sahm | first4 = F. | last5 = Ackermann | first5 = U. | last6 = Schindler | first6 = G. | last7 = Pusch | first7 = S. | last8 = Mechtersheimer | first8 = G. | last9 = Zentgraf | first9 = H. | title = Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody. | journal = Acta Neuropathol | volume = 122 | issue = 1 | pages = 11-9 | month = Jul | year = 2011 | doi = 10.1007/s00401-011-0841-z | PMID = 21638088 }}</ref>
The mutation can be demonstrated with [[Molecular pathology tests|molecular testing]] ([[ARMS]]). Also, a mutation specific [[immunostain]] (''VE1'') is available.<ref name=pmid21638088>{{Cite journal  | last1 = Capper | first1 = D. | last2 = Preusser | first2 = M. | last3 = Habel | first3 = A. | last4 = Sahm | first4 = F. | last5 = Ackermann | first5 = U. | last6 = Schindler | first6 = G. | last7 = Pusch | first7 = S. | last8 = Mechtersheimer | first8 = G. | last9 = Zentgraf | first9 = H. | title = Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody. | journal = Acta Neuropathol | volume = 122 | issue = 1 | pages = 11-9 | month = Jul | year = 2011 | doi = 10.1007/s00401-011-0841-z | PMID = 21638088 }}</ref>
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*[[Ganglioglioma]] (58%).<ref>{{Cite journal  | last1 = Koelsche | first1 = C. | last2 = Wöhrer | first2 = A. | last3 = Jeibmann | first3 = A. | last4 = Schittenhelm | first4 = J. | last5 = Schindler | first5 = G. | last6 = Preusser | first6 = M. | last7 = Lasitschka | first7 = F. | last8 = von Deimling | first8 = A. | last9 = Capper | first9 = D. | title = Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells. | journal = Acta Neuropathol | volume = 125 | issue = 6 | pages = 891-900 | month = Jun | year = 2013 | doi = 10.1007/s00401-013-1100-2 | PMID = 23435618 }}</ref>
*[[Ganglioglioma]] (58%).<ref>{{Cite journal  | last1 = Koelsche | first1 = C. | last2 = Wöhrer | first2 = A. | last3 = Jeibmann | first3 = A. | last4 = Schittenhelm | first4 = J. | last5 = Schindler | first5 = G. | last6 = Preusser | first6 = M. | last7 = Lasitschka | first7 = F. | last8 = von Deimling | first8 = A. | last9 = Capper | first9 = D. | title = Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells. | journal = Acta Neuropathol | volume = 125 | issue = 6 | pages = 891-900 | month = Jun | year = 2013 | doi = 10.1007/s00401-013-1100-2 | PMID = 23435618 }}</ref>
*[[Pleomorphic xanthoastrocytoma]] (78%).<ref>{{Cite journal  | last1 = Koelsche | first1 = C. | last2 = Sahm | first2 = F. | last3 = Wöhrer | first3 = A. | last4 = Jeibmann | first4 = A. | last5 = Schittenhelm | first5 = J. | last6 = Kohlhof | first6 = P. | last7 = Preusser | first7 = M. | last8 = Romeike | first8 = B. | last9 = Dohmen-Scheufler | first9 = H. | title = BRAF-mutated pleomorphic xanthoastrocytoma is associated with temporal location, reticulin fiber deposition and CD34 expression. | journal = Brain Pathol | volume = 24 | issue = 3 | pages = 221-9 | month = Apr | year = 2014 | doi = 10.1111/bpa.12111 | PMID = 24345274 }}</ref>
*[[Pleomorphic xanthoastrocytoma]] (78%).<ref>{{Cite journal  | last1 = Koelsche | first1 = C. | last2 = Sahm | first2 = F. | last3 = Wöhrer | first3 = A. | last4 = Jeibmann | first4 = A. | last5 = Schittenhelm | first5 = J. | last6 = Kohlhof | first6 = P. | last7 = Preusser | first7 = M. | last8 = Romeike | first8 = B. | last9 = Dohmen-Scheufler | first9 = H. | title = BRAF-mutated pleomorphic xanthoastrocytoma is associated with temporal location, reticulin fiber deposition and CD34 expression. | journal = Brain Pathol | volume = 24 | issue = 3 | pages = 221-9 | month = Apr | year = 2014 | doi = 10.1111/bpa.12111 | PMID = 24345274 }}</ref>
*[[Hairy cell leukemia]] (>90%)
*Histiocytic disorders: [[Langerhans cell histiocytosis]] and [[Erdheim-Chester disease]]
*Metanephric adenoma <ref name=pmid22727996>{{Cite journal  | last1 = Choueiri | first1 = TK. | last2 = Cheville | first2 = J. | last3 = Palescandolo | first3 = E. | last4 = Fay | first4 = AP. | last5 = Kantoff | first5 = PW. | last6 = Atkins | first6 = MB. | last7 = McKenney | first7 = JK. | last8 = Brown | first8 = V. | last9 = Lampron | first9 = ME. | title = BRAF mutations in metanephric adenoma of the kidney. | journal = Eur Urol | volume = 62 | issue = 5 | pages = 917-22 | month = Nov | year = 2012 | doi = 10.1016/j.eururo.2012.05.051 | PMID = 22727996 }}</ref><ref name=pmid25602792>{{Cite journal  | last1 = Udager | first1 = AM. | last2 = Pan | first2 = J. | last3 = Magers | first3 = MJ. | last4 = Palapattu | first4 = GS. | last5 = Morgan | first5 = TM. | last6 = Montgomery | first6 = JS. | last7 = Weizer | first7 = AZ. | last8 = Hafez | first8 = KS. | last9 = Miller | first9 = DC. | title = Molecular and immunohistochemical characterization reveals novel BRAF mutations in metanephric adenoma. | journal = Am J Surg Pathol | volume = 39 | issue = 4 | pages = 549-57 | month = Apr | year = 2015 | doi = 10.1097/PAS.0000000000000377 | PMID = 25602792 }}</ref>


===Less commonly mutated===
===Less commonly mutated===
*[[Colorectal cancer]] (5.5%).<ref name=pmid22012135>{{Cite journal  | last1 = Capper | first1 = D. | last2 = Berghoff | first2 = AS. | last3 = Magerle | first3 = M. | last4 = Ilhan | first4 = A. | last5 = Wöhrer | first5 = A. | last6 = Hackl | first6 = M. | last7 = Pichler | first7 = J. | last8 = Pusch | first8 = S. | last9 = Meyer | first9 = J. | title = Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases. | journal = Acta Neuropathol | volume = 123 | issue = 2 | pages = 223-33 | month = Feb | year = 2012 | doi = 10.1007/s00401-011-0887-y | PMID = 22012135 }}</ref>
*[[Colorectal cancer]] (5.5%).<ref name=pmid22012135>{{Cite journal  | last1 = Capper | first1 = D. | last2 = Berghoff | first2 = AS. | last3 = Magerle | first3 = M. | last4 = Ilhan | first4 = A. | last5 = Wöhrer | first5 = A. | last6 = Hackl | first6 = M. | last7 = Pichler | first7 = J. | last8 = Pusch | first8 = S. | last9 = Meyer | first9 = J. | title = Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases. | journal = Acta Neuropathol | volume = 123 | issue = 2 | pages = 223-33 | month = Feb | year = 2012 | doi = 10.1007/s00401-011-0887-y | PMID = 22012135 }}</ref>
**Associated with MSI - specifically MLH1 loss in [[MMR testing]].<ref name=pmid25386108>{{cite journal |authors=Zaanan A, Bachet JB, André T, Sinicrope FA |title=Prognostic Impact of Deficient DNA Mismatch Repair and Mutations in KRAS, and BRAFV600E in Patients with Lymph Node-Positive Colon Cancer |journal=Curr Colorectal Cancer Rep |volume=10 |issue=3 |pages=346–353 |date=September 2014 |pmid=25386108 |pmc=4224319 |doi=10.1007/s11888-014-0237-2 |url=}}</ref>
*[[Ovarian cancer]] (7%).<ref name=pmid22012135>{{Cite journal  | last1 = Capper | first1 = D. | last2 = Berghoff | first2 = AS. | last3 = Magerle | first3 = M. | last4 = Ilhan | first4 = A. | last5 = Wöhrer | first5 = A. | last6 = Hackl | first6 = M. | last7 = Pichler | first7 = J. | last8 = Pusch | first8 = S. | last9 = Meyer | first9 = J. | title = Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases. | journal = Acta Neuropathol | volume = 123 | issue = 2 | pages = 223-33 | month = Feb | year = 2012 | doi = 10.1007/s00401-011-0887-y | PMID = 22012135 }}</ref>
*[[Ovarian cancer]] (7%).<ref name=pmid22012135>{{Cite journal  | last1 = Capper | first1 = D. | last2 = Berghoff | first2 = AS. | last3 = Magerle | first3 = M. | last4 = Ilhan | first4 = A. | last5 = Wöhrer | first5 = A. | last6 = Hackl | first6 = M. | last7 = Pichler | first7 = J. | last8 = Pusch | first8 = S. | last9 = Meyer | first9 = J. | title = Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases. | journal = Acta Neuropathol | volume = 123 | issue = 2 | pages = 223-33 | month = Feb | year = 2012 | doi = 10.1007/s00401-011-0887-y | PMID = 22012135 }}</ref>
*[[Lung adenocarcinoma]] (5%).<ref name=pmid23131393>{{Cite journal  | last1 = Ilie | first1 = M. | last2 = Long | first2 = E. | last3 = Hofman | first3 = V. | last4 = Dadone | first4 = B. | last5 = Marquette | first5 = CH. | last6 = Mouroux | first6 = J. | last7 = Vignaud | first7 = JM. | last8 = Begueret | first8 = H. | last9 = Merlio | first9 = JP. | title = Diagnostic value of immunohistochemistry for the detection of the BRAFV600E mutation in primary lung adenocarcinoma Caucasian patients. | journal = Ann Oncol | volume = 24 | issue = 3 | pages = 742-8 | month = Mar | year = 2013 | doi = 10.1093/annonc/mds534 | PMID = 23131393 }}</ref>
*[[Lung adenocarcinoma]] (5%).<ref name=pmid23131393>{{Cite journal  | last1 = Ilie | first1 = M. | last2 = Long | first2 = E. | last3 = Hofman | first3 = V. | last4 = Dadone | first4 = B. | last5 = Marquette | first5 = CH. | last6 = Mouroux | first6 = J. | last7 = Vignaud | first7 = JM. | last8 = Begueret | first8 = H. | last9 = Merlio | first9 = JP. | title = Diagnostic value of immunohistochemistry for the detection of the BRAFV600E mutation in primary lung adenocarcinoma Caucasian patients. | journal = Ann Oncol | volume = 24 | issue = 3 | pages = 742-8 | month = Mar | year = 2013 | doi = 10.1093/annonc/mds534 | PMID = 23131393 }}</ref>
*Endosalpingiosis, especially those with synchronous or metachronous low grade serous neoplasms (up to 8/21).<ref>{{cite journal |authors=Chui MH, Shih IM |title=Oncogenic BRAF and KRAS mutations in endosalpingiosis |journal=J Pathol |volume=250 |issue=2 |pages=148–158 |date=February 2020 |pmid=31576556 |doi=10.1002/path.5353 |url=}}</ref>


==See also==
==See also==
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*[[Molecular pathology tests]].
*[[Molecular pathology tests]].
*[[KRAS mutation]].
*[[KRAS mutation]].
*[[Cancer Hotspot Panel v2]].
*[[BRAF mutation]].


==References==
==References==

Latest revision as of 21:11, 30 June 2024

BRAF V600E positivity in malignant melanoma. VE1 immunostain.

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]

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

Less commonly mutated

See also

References

  1. ↑ 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.
  2. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 164757
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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/.
  10. ↑ 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.
  11. ↑ 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.
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