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1 "Eduardo Santini Araujo"
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Original Article
IDH Mutation Analysis in Ewing Sarcoma Family Tumors
Ki Yong Na, Byeong-Joo Noh, Ji-Youn Sung, Youn Wha Kim, Eduardo Santini Araujo, Yong-Koo Park
J Pathol Transl Med. 2015;49(3):257-261.   Published online May 15, 2015
DOI: https://doi.org/10.4132/jptm.2015.04.14
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  • 7 Web of Science
  • 7 Crossref
AbstractAbstract PDF
Background
Isocitrate dehydrogenase (IDH) catalyzes the oxidative decarboxylation of isocitrate to yield α-ketoglutarate (α-KG) with production of reduced nicotinamide adenine dinucleotide (NADH). Dysfunctional IDH leads to reduced production of α-KG and NADH and increased production of 2-hydroxyglutarate, an oncometabolite. This results in increased oxidative damage and stabilization of hypoxia-inducible factor α, causing cells to be prone to tumorigenesis. Methods: This study investigated IDH mutations in 61 Ewing sarcoma family tumors (ESFTs), using a pentose nucleic acid clamping method and direct sequencing. Results: We identified four cases of ESFTs harboring IDH mutations. The number of IDH1 and IDH2 mutations was equal and the subtype of IDH mutations was variable. Clinicopathologic analysis according to IDH mutation status did not reveal significant results. Conclusions: This study is the first to report IDH mutations in ESFTs. The results indicate that ESFTs can harbor IDH mutations in previously known hot-spot regions, although their incidence is rare. Further validation with a larger case-based study would establish more reliable and significant data on prevalence rate and the biological significance of IDH mutations in ESFTs.

Citations

Citations to this article as recorded by  
  • Glutamine-dependent effects of nitric oxide on cancer cells subjected to hypoxia-reoxygenation
    Dianna Xing, Gloria A. Benavides, Michelle S. Johnson, Ran Tian, Stephen Barnes, Victor M. Darley-Usmar
    Nitric Oxide.2023; 130: 22.     CrossRef
  • Hypoxia and HIFs in Ewing sarcoma: new perspectives on a multi-facetted relationship
    A. Katharina Ceranski, Martha J. Carreño-Gonzalez, Anna C. Ehlers, Maria Vittoria Colombo, Florencia Cidre-Aranaz, Thomas G. P. Grünewald
    Molecular Cancer.2023;[Epub]     CrossRef
  • Metabolic adaptations in cancers expressing isocitrate dehydrogenase mutations
    Ingvild Comfort Hvinden, Tom Cadoux-Hudson, Christopher J. Schofield, James S.O. McCullagh
    Cell Reports Medicine.2021; 2(12): 100469.     CrossRef
  • Isocitrate dehydrogenase gene variants in cancer and their clinical significance
    Thomas Cadoux-Hudson, Christopher J. Schofield, James S.O. McCullagh
    Biochemical Society Transactions.2021; 49(6): 2561.     CrossRef
  • Advances in sarcoma gene mutations and therapeutic targets
    Peng Gao, Nicole A. Seebacher, Francis Hornicek, Zheng Guo, Zhenfeng Duan
    Cancer Treatment Reviews.2018; 62: 98.     CrossRef
  • Clinicopathologic Features of the Non-CNS Primary Ewing Sarcoma Family of Tumors in the Head and Neck Region
    Chang Gok Woo, Bora Lee, Joon Seon Song, Kyung-Ja Cho
    Applied Immunohistochemistry & Molecular Morphology.2018; 26(9): 632.     CrossRef
  • EWS/FLI is a Master Regulator of Metabolic Reprogramming in Ewing Sarcoma
    Jason M. Tanner, Claire Bensard, Peng Wei, Nathan M. Krah, John C. Schell, Jamie Gardiner, Joshua Schiffman, Stephen L. Lessnick, Jared Rutter
    Molecular Cancer Research.2017; 15(11): 1517.     CrossRef

J Pathol Transl Med : Journal of Pathology and Translational Medicine