title: IDH Mutation Analysis in Ewing Sarcoma Family Tumors.
abstract: 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.
authors.affiliation: Department of Pathology, Central Physical Examination Agency, Daegu, Korea.
authors.forename: Ki Yong
authors.initials: KY
authors.lastname: Na
authors.affiliation: Department of Pathology, Graduate School of Medicine, Kyung Hee University, Seoul, Korea.
authors.forename: Byeong-Joo
authors.initials: BJ
authors.lastname: Noh
authors.affiliation: Department of Pathology, Kyung Hee University College of Medicine, Seoul, Korea.
authors.forename: Ji-Youn
authors.initials: JY
authors.lastname: Sung
authors.affiliation: Department of Pathology, Kyung Hee University College of Medicine, Seoul, Korea.
authors.forename: Youn Wha
authors.initials: YW
authors.lastname: Kim
authors.affiliation: Orthopedic Pathology Laboratory, Buenos Aires, Argentina.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Santini Araujo
authors.affiliation: Department of Pathology, Kyung Hee University College of Medicine, Seoul, Korea.
authors.forename: Yong-Koo
authors.initials: YK
authors.lastname: Park
keywords: Isocitrate dehydrogenase; PNA clamping; Sarcoma, Ewing