48,466
edits
Difference between revisions of "BRAF V600E mutation"
Jump to navigation
Jump to search
m
vauthors - fix
m (vauthors - fix) |
|||
| (9 intermediate revisions by 2 users not shown) | |||
| Line 1: | Line 1: | ||
[[Image:BRAF_V600E_mutant_melanoma.jpg|thumb| | [[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/> | ||
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 ''BRAF gene'', formally known as ''v-RAF murine sarcoma viral oncogene homolog B1'', is a serine threonine kinase.<ref>{{OMIM|164757}}</ref> | ||
| 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=== | ||
| Line 17: | Line 23: | ||
*[[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== | ||
| Line 22: | Line 29: | ||
*[[Molecular pathology tests]]. | *[[Molecular pathology tests]]. | ||
*[[KRAS mutation]]. | *[[KRAS mutation]]. | ||
*[[Cancer Hotspot Panel v2]]. | |||
*[[BRAF mutation]]. | |||
==References== | ==References== | ||