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==Tumours== | ==Tumours== | ||
*[[Oligodendroglioma]]<ref>{{Cite journal | last1 = Capper | first1 = D. | last2 = Reuss | first2 = D. | last3 = Schittenhelm | first3 = J. | last4 = Hartmann | first4 = C. | last5 = Bremer | first5 = J. | last6 = Sahm | first6 = F. | last7 = Harter | first7 = PN. | last8 = Jeibmann | first8 = A. | last9 = von Deimling | first9 = A. | title = Mutation-specific IDH1 antibody differentiates oligodendrogliomas and oligoastrocytomas from other brain tumors with oligodendroglioma-like morphology. | journal = Acta Neuropathol | volume = 121 | issue = 2 | pages = 241-52 | month = Feb | year = 2011 | doi = 10.1007/s00401-010-0770-2 | PMID = 21069360 }}</ref> | *[[Oligodendroglioma]] <ref>{{Cite journal | last1 = Capper | first1 = D. | last2 = Reuss | first2 = D. | last3 = Schittenhelm | first3 = J. | last4 = Hartmann | first4 = C. | last5 = Bremer | first5 = J. | last6 = Sahm | first6 = F. | last7 = Harter | first7 = PN. | last8 = Jeibmann | first8 = A. | last9 = von Deimling | first9 = A. | title = Mutation-specific IDH1 antibody differentiates oligodendrogliomas and oligoastrocytomas from other brain tumors with oligodendroglioma-like morphology. | journal = Acta Neuropathol | volume = 121 | issue = 2 | pages = 241-52 | month = Feb | year = 2011 | doi = 10.1007/s00401-010-0770-2 | PMID = 21069360 }}</ref> | ||
*[[Astrocytoma]] | *[[Astrocytoma]] | ||
*Secondary [[glioblastoma]] | *Secondary [[glioblastoma]] | ||
*[[Myelodysplasia]]<ref>{{Cite journal | last1 = Andrulis | first1 = M. | last2 = Capper | first2 = D. | last3 = Luft | first3 = T. | last4 = Hartmann | first4 = C. | last5 = Zentgraf | first5 = H. | last6 = von Deimling | first6 = A. | title = Detection of isocitrate dehydrogenase 1 mutation R132H in myelodysplastic syndrome by mutation-specific antibody and direct sequencing. | journal = Leuk Res | volume = 34 | issue = 8 | pages = 1091-3 | month = Aug | year = 2010 | doi = 10.1016/j.leukres.2010.02.014 | PMID = 20227112 }}</ref> | *[[Myelodysplasia]] <ref>{{Cite journal | last1 = Andrulis | first1 = M. | last2 = Capper | first2 = D. | last3 = Luft | first3 = T. | last4 = Hartmann | first4 = C. | last5 = Zentgraf | first5 = H. | last6 = von Deimling | first6 = A. | title = Detection of isocitrate dehydrogenase 1 mutation R132H in myelodysplastic syndrome by mutation-specific antibody and direct sequencing. | journal = Leuk Res | volume = 34 | issue = 8 | pages = 1091-3 | month = Aug | year = 2010 | doi = 10.1016/j.leukres.2010.02.014 | PMID = 20227112 }}</ref> | ||
*[[Acute myeloid leukemia]] | *[[Acute myeloid leukemia]] | ||
*[[Chondrosarcoma]] <ref>{{Cite journal | last1 = Amary | first1 = MF. | last2 = Bacsi | first2 = K. | last3 = Maggiani | first3 = F. | last4 = Damato | first4 = S. | last5 = Halai | first5 = D. | last6 = Berisha | first6 = F. | last7 = Pollock | first7 = R. | last8 = O'Donnell | first8 = P. | last9 = Grigoriadis | first9 = A. | title = IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours. | journal = J Pathol | volume = 224 | issue = 3 | pages = 334-43 | month = Jul | year = 2011 | doi = 10.1002/path.2913 | PMID = 21598255 }}</ref> | |||
===Negative=== | ===Negative=== | ||
| Line 32: | Line 33: | ||
*[[Pilocytic astrocytoma]] | *[[Pilocytic astrocytoma]] | ||
*Neuronal tumors | *Neuronal tumors | ||
*Sarcoma, carcinoma <ref>{{Cite journal | last1 = Sahm | first1 = F. | last2 = Capper | first2 = D. | last3 = Meyer | first3 = J. | last4 = Hartmann | first4 = C. | last5 = Herpel | first5 = E. | last6 = Andrulis | first6 = M. | last7 = Mechtersheimer | first7 = G. | last8 = Petersen | first8 = I. | last9 = Paulus | first9 = W. | title = Immunohistochemical analysis of 1844 human epithelial and haematopoietic tumours and sarcomas for IDH1R132H mutation. | journal = Histopathology | volume = 58 | issue = 7 | pages = 1167-72 | month = Jun | year = 2011 | doi = 10.1111/j.1365-2559.2011.03823.x | PMID = 21707716 }}</ref> | *Sarcoma, carcinoma <ref>{{Cite journal | last1 = Sahm | first1 = F. | last2 = Capper | first2 = D. | last3 = Meyer | first3 = J. | last4 = Hartmann | first4 = C. | last5 = Herpel | first5 = E. | last6 = Andrulis | first6 = M. | last7 = Mechtersheimer | first7 = G. | last8 = Petersen | first8 = I. | last9 = Paulus | first9 = W. | title = Immunohistochemical analysis of 1844 human epithelial and haematopoietic tumours and sarcomas for IDH1R132H mutation. | journal = Histopathology | volume = 58 | issue = 7 | pages = 1167-72 | month = Jun | year = 2011 | doi = 10.1111/j.1365-2559.2011.03823.x | PMID = 21707716 }}</ref> - note that some Cholangiocarcinoma contain IDH1 R132C or R172K mutations.<ref>{{Cite journal | last1 = Farshidfar | first1 = F. | last2 = Zheng | first2 = S. | last3 = Gingras | first3 = MC. | last4 = Newton | first4 = Y. | last5 = Shih | first5 = J. | last6 = Robertson | first6 = AG. | last7 = Hinoue | first7 = T. | last8 = Hoadley | first8 = KA. | last9 = Gibb | first9 = EA. | title = Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles. | journal = Cell Rep | volume = 18 | issue = 11 | pages = 2780-2794 | month = Mar | year = 2017 | doi = 10.1016/j.celrep.2017.02.033 | PMID = 28297679 }} not detected by IHC.</ref> | ||
==Functional meaning== | |||
The R132H amino acic exchange alters the enzymatic activity of IDH resulting in production D-2-hydroxyglutarate (D-2HG).<ref>{{Cite journal | last1 = Longuespée | first1 = R. | last2 = Wefers | first2 = AK. | last3 = De Vita | first3 = E. | last4 = Miller | first4 = AK. | last5 = Reuss | first5 = DE. | last6 = Wick | first6 = W. | last7 = Herold-Mende | first7 = C. | last8 = Kriegsmann | first8 = M. | last9 = Schirmacher | first9 = P. | title = Rapid detection of 2-hydroxyglutarate in frozen sections of IDH mutant tumors by MALDI-TOF mass spectrometry. | journal = Acta Neuropathol Commun | volume = 6 | issue = 1 | pages = 21 | month = 03 | year = 2018 | doi = 10.1186/s40478-018-0523-3 | PMID = 29499756 }}</ref> Therefore the mutated enzyme is considered an oncometabolite. | |||
[[File:Wild-type_and_mutant_IDH1_structures.png|400px]] | |||