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Difference between revisions of "IDH mutation"
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*Oligodendroglioma (requirement for diagnosis). | *Oligodendroglioma (requirement for diagnosis). | ||
*Secondary Glioblastoma. | *Secondary Glioblastoma. | ||
**Ddx: IDH mutations in PNET are most likely misdiagnosed small cell glioblastomas.<ref>{{Cite journal | last1 = Song | first1 = X. | last2 = Andrew Allen | first2 = R. | last3 = Terence Dunn | first3 = S. | last4 = Fung | first4 = KM. | last5 = Farmer | first5 = P. | last6 = Gandhi | first6 = S. | last7 = Ranjan | first7 = T. | last8 = Demopoulos | first8 = A. | last9 = Symons | first9 = M. | title = Glioblastoma with PNET-like components has a higher frequency of isocitrate dehydrogenase 1 (IDH1) mutation and likely a better prognosis than primary glioblastoma. | journal = Int J Clin Exp Pathol | volume = 4 | issue = 7 | pages = 651-60 | month = | year = 2011 | doi = | PMID = 22076165 }}</ref> | |||
Less common: | Less common: | ||
*Myeloproliferative disorders<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> | *Myeloproliferative disorders<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> | ||
*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><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 = 03 | year = 2017 | doi = 10.1016/j.celrep.2017.02.033 | PMID = 28297679 }}</ref> | ||
*Esthesioneuroblastoma.<ref>{{Cite journal | last1 = Capper | first1 = D. | last2 = Engel | first2 = NW. | last3 = Stichel | first3 = D. | last4 = Lechner | first4 = M. | last5 = Glöss | first5 = S. | last6 = Schmid | first6 = S. | last7 = Koelsche | first7 = C. | last8 = Schrimpf | first8 = D. | last9 = Niesen | first9 = J. | title = DNA methylation-based reclassification of olfactory neuroblastoma. | journal = Acta Neuropathol | volume = 136 | issue = 2 | pages = 255-271 | month = 08 | year = 2018 | doi = 10.1007/s00401-018-1854-7 | PMID = 29730775 }}</ref> | *Esthesioneuroblastoma.<ref>{{Cite journal | last1 = Capper | first1 = D. | last2 = Engel | first2 = NW. | last3 = Stichel | first3 = D. | last4 = Lechner | first4 = M. | last5 = Glöss | first5 = S. | last6 = Schmid | first6 = S. | last7 = Koelsche | first7 = C. | last8 = Schrimpf | first8 = D. | last9 = Niesen | first9 = J. | title = DNA methylation-based reclassification of olfactory neuroblastoma. | journal = Acta Neuropathol | volume = 136 | issue = 2 | pages = 255-271 | month = 08 | year = 2018 | doi = 10.1007/s00401-018-1854-7 | PMID = 29730775 }}</ref> | ||
**DDx: Sinunasal undifferentiated carcinoma.<ref>{{Cite journal | last1 = Dogan | first1 = S. | last2 = Chute | first2 = DJ. | last3 = Xu | first3 = B. | last4 = Ptashkin | first4 = RN. | last5 = Chandramohan | first5 = R. | last6 = Casanova-Murphy | first6 = J. | last7 = Nafa | first7 = K. | last8 = Bishop | first8 = JA. | last9 = Chiosea | first9 = SI. | title = Frequent IDH2 R172 mutations in undifferentiated and poorly-differentiated sinonasal carcinomas. | journal = J Pathol | volume = 242 | issue = 4 | pages = 400-408 | month = 08 | year = 2017 | doi = 10.1002/path.4915 | PMID = 28493366 }}</ref> | |||
*Malignant melanoma.<ref>{{Cite journal | last1 = Linos | first1 = K. | last2 = Tafe | first2 = LJ. | title = Isocitrate dehydrogenase 1 mutations in melanoma frequently co-occur with NRAS mutations. | journal = Histopathology | volume = 73 | issue = 6 | pages = 963-968 | month = Dec | year = 2018 | doi = 10.1111/his.13707 | PMID = 30003571 }}</ref> | |||
===Molecular background=== | ===Molecular background=== | ||