Journal of Pathology and Translational Medicine

Original Articles

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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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

Ewing’s Sarcoma Presenting in the Paranasal Sinus – A Case Report
Yashika Kewalramani, Ajay Parihar, Prashanthi Reddy, Rashi Mandlik
Annals of Maxillofacial Surgery.2024; 14(2): 228. CrossRef
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

Macrophage/dendritic Cell Marker Staining Characteristics of Langerhans cell Granulomatosis(Histiocytosis X).: Sang Ae Yoon, In Sun Kim; Korean J Pathol. 1992;26(3):310-313.

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Abstract PDF: Histiocytosis X is characterized by aggregates of Langerhans cells with other inflammatory cells. These Langerhans cells are antigen-presenting cells to T lymphocytes and identified by characteristic morphology, ultrastructural demonstration of Birbeck granules and immunologic reactivity with OKT-6 and HLA-DR antibodies. In this report, the tumor arising in a 2-years-old baby was examined byimmunostaining with several macrophage/dendritic cell markers. The main tumor cells showed cytoplasmic and nuclear staining with S-100 protein and ring-like surface and paranuclear staining with PNA. However, they were negative for follicular dendritic cell marker CD21, macrophage markers lysozyme, Mac 387, alpha-1 antitrypsin and CD68, and interdigitating reticulum cell marker ID4 and ID5. These observations demonstrate the usefulness of S-100 protein and PNA for the identification of Langerhans cells in paraffin-embedded tissue.

An Immunohistochemical Study of PNA (peaunt agglutinin) Binding in Transitional Cell Carcinomas of the Urinary Bladder.: Chul Hwan Kim, Nam Hee Won, Kap No Lee; Korean J Pathol. 1990;24(3):227-235.

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Abstract PDF: Recently, extensive uses of lectins as cytochemical markers have made of studies for various epithelial and nonepithelial neoplasia, however, investigations of epithelial cell surface of transitional cell carcinomas of the urinary bladder have been few. Thus, the atuhors performed a study of PNA binding in the authors performed a study of PNA binding in transitional cell carcinomas with comparision with that in normal mucosa of the urinary bladder to allow more accurate diagnosis and histological grade or degree of differentiation. The results of this study are as follows: 1) PNA shows negative reactions on all ten normal mucosae of the urinary bladder but positive staining at the glycocalyx of umbrellar cells in two cases. 2) PNA shows negative reactions on all four cases of von Brun'n nests and cystitis cystica. 3) PNA shows positive reactions on thirty (50%) of total sixty-one cases of transitional cell carcinomas and reveals two (20%), nine (41%), eleven (55%) and eight (88%) cases in grade I, II, III and IV, respectively. 4) PNA shows positive reactions on the intracytoplasm and/or degree of PNA binding activity in grade I to IV transitional cell carcinomas is not statistically significantly different (p>0.05). In summary, PNA did not react with normal nucosa and metaplastic lesions such as von Brunn's nests and cystitis cystica, however, it reacted with 50% (30/61 cases) of transitional cell carcinoma and its positivity is significantly increased with gradings of transitional cell carcinomas (p<0.05).

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