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''' is a common recurrent mutation in the BRAF gene that is seen in many types of [[cancer]].   
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]]''.


The mutation can be demonstrated with [[Molecular pathology tests|molecular testing]]. Also, a mutation specific [[immunostain]] ('''VP1''') 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>
==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>


==Positive==
==Positive==
Line 12: Line 15:
*[[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==
*[[Immunohistochemistry]].
*[[Immunohistochemistry]].
*[[Molecular pathology tests]].
*[[Molecular pathology tests]].
*[[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.