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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한병리학회 Journal of Pathology and Translational Medicine Journal of Pathology and Translational Medicine 제49권 제3호
- 발행연도
- 2015.1
- 수록면
- 257 - 261 (5page)
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초록· 키워드
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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.
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참고문헌 (14)
참고문헌 신청
Abbas S / 2010 / Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia : prevalence and prognostic value / Blood 116
Abdel-Wahab O / 2010 / Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias / Cancer Res 70 : 447 ~ 452
Amary MF / 2011 / IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours / J Pathol
Arai M / 2012 / Frequent IDH1/2 mutations in intracranial chondrosarcoma : a possible diagnostic clue for its differentiation from chordoma / Brain Tumor Pathol 29 : 201 ~ 2
Fletcher CD / 2013 / WHO classification of tumours of soft tissue and bone / IARC Press
Abdel-Wahab O / 2010 / Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias / Cancer Res 70 : 447 ~ 452
Amary MF / 2011 / IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours / J Pathol
Arai M / 2012 / Frequent IDH1/2 mutations in intracranial chondrosarcoma : a possible diagnostic clue for its differentiation from chordoma / Brain Tumor Pathol 29 : 201 ~ 2
Fletcher CD / 2013 / WHO classification of tumours of soft tissue and bone / IARC Press
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