Difference between revisions of "BRAF V600E mutation"

From Libre Pathology
Jump to navigation Jump to search
(mutation specific antibody)
 
(reworking a bit...)
Line 1: Line 1:
[[Image:BRAF_V600E_mutant_melanoma.jpg|thumb|200px|right|BRAF V600E staining in [[malignant melanoma]].]]
[[Image:BRAF_V600E_mutant_melanoma.jpg|thumb|200px|right|BRAF V600E staining in [[malignant melanoma]].]]
'''BRAF V600E''', also knwon as clone '''VP1''', is a mutation specific [[immunostain]]<ref>{{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>. It detects a common oncogenic V600E hotspot mutation in serine threonine kinase v-RAF murine sarcoma viral oncogene homolog B1 (BRAF).
'''BRAF V600E''' is a common recurrent mutation in the BRAF gene that is seen in many types of [[cancer]]. 
 
BRAF is ''serine threonine kinase v-RAF murine sarcoma viral oncogene homolog B1''.
 
It 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>


==Positive==
==Positive==
===commonly mutated===
===Commonly mutated===
*[[malignant melanoma]] (55%) <ref>{{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>
*[[Malignant melanoma]] (55%).<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>
*[[papillary thyroid carcinoma]] (79%) <ref>{{Cite journal  | last1 = Ilie | first1 = MI. | last2 = Lassalle | first2 = S. | last3 = Long-Mira | first3 = E. | last4 = Bonnetaud | first4 = C. | last5 = Bordone | first5 = O. | last6 = Lespinet | first6 = V. | last7 = Lamy | first7 = A. | last8 = Sabourin | first8 = JC. | last9 = Haudebourg | first9 = J. | title = Diagnostic value of immunohistochemistry for the detection of the BRAF(V600E) mutation in papillary thyroid carcinoma: comparative analysis with three DNA-based assays. | journal = Thyroid | volume = 24 | issue = 5 | pages = 858-66 | month = May | year = 2014 | doi = 10.1089/thy.2013.0302 | PMID = 24417277 }}</ref>
*[[Papillary thyroid carcinoma]] (79%).<ref>{{Cite journal  | last1 = Ilie | first1 = MI. | last2 = Lassalle | first2 = S. | last3 = Long-Mira | first3 = E. | last4 = Bonnetaud | first4 = C. | last5 = Bordone | first5 = O. | last6 = Lespinet | first6 = V. | last7 = Lamy | first7 = A. | last8 = Sabourin | first8 = JC. | last9 = Haudebourg | first9 = J. | title = Diagnostic value of immunohistochemistry for the detection of the BRAF(V600E) mutation in papillary thyroid carcinoma: comparative analysis with three DNA-based assays. | journal = Thyroid | volume = 24 | issue = 5 | pages = 858-66 | month = May | year = 2014 | doi = 10.1089/thy.2013.0302 | PMID = 24417277 }}</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>
*[[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>
 


===less commonly mutated===
===Less commonly mutated===
*[[colorectal cancer]] (5.5%)<ref>{{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>
*[[ovarian cancer]] (7%) <ref>{{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 adenocarinoma]] (5%) <ref>{{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>


==See also==
==See also==
*[[Immunohistochemistry]].
*[[Immunohistochemistry]].
*[[Molecular pathology tests]].


==References==
==References==
{{Reflist|1}}
{{Reflist|2}}


[[Category:Immunohistochemistry]]
[[Category:Immunohistochemistry]]

Revision as of 12:43, 24 July 2015

BRAF V600E staining in malignant melanoma.

BRAF V600E is a common recurrent mutation in the BRAF gene that is seen in many types of cancer.

BRAF is serine threonine kinase v-RAF murine sarcoma viral oncogene homolog B1.

It can be demonstrated with molecular testing. Also, a mutation specific immunostain (VP1) is available.[1]

Positive

Commonly mutated

Less commonly mutated

See also

References

  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. ↑ 2.0 2.1 2.2 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
Retrieved from "https://librepathology.org/w/index.php?title=BRAF_V600E_mutation&oldid=38983"