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Difference between revisions of "IDH mutation"
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*Cholangiocellular carcinoma<ref>{{Cite journal | last1 = Zou | first1 = S. | last2 = Li | first2 = J. | last3 = Zhou | first3 = H. | last4 = Frech | first4 = C. | last5 = Jiang | first5 = X. | last6 = Chu | first6 = JS. | last7 = Zhao | first7 = X. | last8 = Li | first8 = Y. | last9 = Li | first9 = Q. | title = Mutational landscape of intrahepatic cholangiocarcinoma. | journal = Nat Commun | volume = 5 | issue = | pages = 5696 | month = Dec | year = 2014 | doi = 10.1038/ncomms6696 | PMID = 25526346 }}</ref> | *Cholangiocellular carcinoma<ref>{{Cite journal | last1 = Zou | first1 = S. | last2 = Li | first2 = J. | last3 = Zhou | first3 = H. | last4 = Frech | first4 = C. | last5 = Jiang | first5 = X. | last6 = Chu | first6 = JS. | last7 = Zhao | first7 = X. | last8 = Li | first8 = Y. | last9 = Li | first9 = Q. | title = Mutational landscape of intrahepatic cholangiocarcinoma. | journal = Nat Commun | volume = 5 | issue = | pages = 5696 | month = Dec | year = 2014 | doi = 10.1038/ncomms6696 | PMID = 25526346 }}</ref> | ||
===Molecular background=== | |||
* IDH are present as homodimers and oxidize isocitrate to alpha-ketoglutarate. | |||
* Heterozygous IDH mutations result in reduction of alpha-ketoglutrate to D-2-hydroxyglutarate. | |||
* D-2-hydroxyglutarate blocks histone demethylation and promotes proliferation. | |||
* The increased D-2-hydroxyglutarate can be detected by Proton magnetic resonance spectroscopy.<ref>{{Cite journal | last1 = Choi | first1 = C. | last2 = Raisanen | first2 = JM. | last3 = Ganji | first3 = SK. | last4 = Zhang | first4 = S. | last5 = McNeil | first5 = SS. | last6 = An | first6 = Z. | last7 = Madan | first7 = A. | last8 = Hatanpaa | first8 = KJ. | last9 = Vemireddy | first9 = V. | title = Prospective Longitudinal Analysis of 2-Hydroxyglutarate Magnetic Resonance Spectroscopy Identifies Broad Clinical Utility for the Management of Patients With IDH-Mutant Glioma. | journal = J Clin Oncol | volume = 34 | issue = 33 | pages = 4030-4039 | month = Nov | year = 2016 | doi = 10.1200/JCO.2016.67.1222 | PMID = 28248126 }}</ref> | |||
===Implication=== | ===Implication=== | ||
*IDH mutant gliomas have a more favourable outcome than wildtype tumors<ref>{{Cite journal | last1 = Hartmann | first1 = C. | last2 = Hentschel | first2 = B. | last3 = Wick | first3 = W. | last4 = Capper | first4 = D. | last5 = Felsberg | first5 = J. | last6 = Simon | first6 = M. | last7 = Westphal | first7 = M. | last8 = Schackert | first8 = G. | last9 = Meyermann | first9 = R. | title = Patients with IDH1 wild type anaplastic astrocytomas exhibit worse prognosis than IDH1-mutated glioblastomas, and IDH1 mutation status accounts for the unfavorable prognostic effect of higher age: implications for classification of gliomas. | journal = Acta Neuropathol | volume = 120 | issue = 6 | pages = 707-18 | month = Dec | year = 2010 | doi = 10.1007/s00401-010-0781-z | PMID = 21088844 }}</ref> | *IDH mutant gliomas have a more favourable outcome than wildtype tumors<ref>{{Cite journal | last1 = Hartmann | first1 = C. | last2 = Hentschel | first2 = B. | last3 = Wick | first3 = W. | last4 = Capper | first4 = D. | last5 = Felsberg | first5 = J. | last6 = Simon | first6 = M. | last7 = Westphal | first7 = M. | last8 = Schackert | first8 = G. | last9 = Meyermann | first9 = R. | title = Patients with IDH1 wild type anaplastic astrocytomas exhibit worse prognosis than IDH1-mutated glioblastomas, and IDH1 mutation status accounts for the unfavorable prognostic effect of higher age: implications for classification of gliomas. | journal = Acta Neuropathol | volume = 120 | issue = 6 | pages = 707-18 | month = Dec | year = 2010 | doi = 10.1007/s00401-010-0781-z | PMID = 21088844 }}</ref> | ||
*Within IDH mutant tumors, conventional grading is not represented by diffent survival.<ref>{{Cite journal | last1 = Reuss | first1 = DE. | last2 = Mamatjan | first2 = Y. | last3 = Schrimpf | first3 = D. | last4 = Capper | first4 = D. | last5 = Hovestadt | first5 = V. | last6 = Kratz | first6 = A. | last7 = Sahm | first7 = F. | last8 = Koelsche | first8 = C. | last9 = Korshunov | first9 = A. | title = IDH mutant diffuse and anaplastic astrocytomas have similar age at presentation and little difference in survival: a grading problem for WHO. | journal = Acta Neuropathol | volume = 129 | issue = 6 | pages = 867-73 | month = Jun | year = 2015 | doi = 10.1007/s00401-015-1438-8 | PMID = 25962792 }}</ref> | *Within IDH mutant tumors, conventional grading is not represented by diffent survival.<ref>{{Cite journal | last1 = Reuss | first1 = DE. | last2 = Mamatjan | first2 = Y. | last3 = Schrimpf | first3 = D. | last4 = Capper | first4 = D. | last5 = Hovestadt | first5 = V. | last6 = Kratz | first6 = A. | last7 = Sahm | first7 = F. | last8 = Koelsche | first8 = C. | last9 = Korshunov | first9 = A. | title = IDH mutant diffuse and anaplastic astrocytomas have similar age at presentation and little difference in survival: a grading problem for WHO. | journal = Acta Neuropathol | volume = 129 | issue = 6 | pages = 867-73 | month = Jun | year = 2015 | doi = 10.1007/s00401-015-1438-8 | PMID = 25962792 }}</ref> | ||
* | |||
*IDH1 and IDH2 mutations are mutually exclusive. | |||
*IDH2 mutations are more common in oligodendroglial tumors. | |||