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Difference between revisions of "Langerhans cell histiocytosis"
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Langerhans cell histiocytosis (view source)
Revision as of 03:28, 25 April 2016
, 03:28, 25 April 2016→Molecular
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==Molecular== | ==Molecular== | ||
*Commonly have | *Commonly have BRAF mutations ~ 40-70% of cases.<ref name=pmid26980021>{{Cite journal | last1 = Alayed | first1 = K. | last2 = Medeiros | first2 = LJ. | last3 = Patel | first3 = KP. | last4 = Zuo | first4 = Z. | last5 = Li | first5 = S. | last6 = Verma | first6 = S. | last7 = Galbincea | first7 = J. | last8 = Cason | first8 = RC. | last9 = Luthra | first9 = R. | title = BRAF and MAP2K1 mutations in Langerhans cell histiocytosis: a study of 50 cases. | journal = Hum Pathol | volume = | issue = | pages = | month = Feb | year = 2016 | doi = 10.1016/j.humpath.2015.12.029 | PMID = 26980021 }}</ref> | ||
**'' | **''[[BRAF V600E mutation|V600E mutations]]'' are the most common.<ref name=pmid27094161>{{Cite journal | last1 = Tatsuno | first1 = M. | last2 = Shioda | first2 = Y. | last3 = Iwafuchi | first3 = H. | last4 = Yamazaki | first4 = S. | last5 = Iijima | first5 = K. | last6 = Takahashi | first6 = C. | last7 = Ono | first7 = H. | last8 = Uchida | first8 = K. | last9 = Okamura | first9 = O. | title = BRAF V600 mutations in Langerhans cell histiocytosis with a simple and unique assay. | journal = Diagn Pathol | volume = 11 | issue = 1 | pages = 39 | month = | year = 2016 | doi = 10.1186/s13000-016-0489-z | PMID = 27094161 }}</ref> | ||
**MAP2K1 mutations are often found in the cases without BRAF mutations.<ref name=pmid26980021/><ref>{{Cite journal | last1 = Chakraborty | first1 = R. | last2 = Hampton | first2 = OA. | last3 = Shen | first3 = X. | last4 = Simko | first4 = SJ. | last5 = Shih | first5 = A. | last6 = Abhyankar | first6 = H. | last7 = Lim | first7 = KP. | last8 = Covington | first8 = KR. | last9 = Trevino | first9 = L. | title = Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. | journal = Blood | volume = 124 | issue = 19 | pages = 3007-15 | month = Nov | year = 2014 | doi = 10.1182/blood-2014-05-577825 | PMID = 25202140 }}</ref> | **MAP2K1 mutations are often found in the cases without BRAF mutations.<ref name=pmid26980021/><ref>{{Cite journal | last1 = Chakraborty | first1 = R. | last2 = Hampton | first2 = OA. | last3 = Shen | first3 = X. | last4 = Simko | first4 = SJ. | last5 = Shih | first5 = A. | last6 = Abhyankar | first6 = H. | last7 = Lim | first7 = KP. | last8 = Covington | first8 = KR. | last9 = Trevino | first9 = L. | title = Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. | journal = Blood | volume = 124 | issue = 19 | pages = 3007-15 | month = Nov | year = 2014 | doi = 10.1182/blood-2014-05-577825 | PMID = 25202140 }}</ref> | ||