Journal of Pathology and Translational Medicine

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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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

Case Studies

Recurrent Thyroid Papillary Carcinoma in Children Under Ten Years Old: Report of Two Cases and Literature Review: Byeong-Joo Noh, Ji-Youn Sung, Youn-Wha Kim, Yong-Koo Park; Korean J Pathol. 2014;48(4):297-301. Published online August 26, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.4.297

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Abstract PDF

Papillary thyroid carcinoma (PTC) in children under ten years old is very rare. To date, 18 cases of PTC in children under ten years old (including our two cases) have been reported in Korea. Here, we describe two cases of recurrent PTC with follicular variant and conventional type in an 8-year-old boy and a 7-year-old boy, respectively, and discuss clinicopathologic and molecular characteristics that differ in pediatric patients from adults.

Citations

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Extremely Well-Differentiated Papillary Thyroid Carcinoma Resembling Adenomatous Hyperplasia Can Metastasize to the Skull: A Case Report
Ju Yeon Pyo, Jisup Kim, Sung-eun Choi, Eunah Shin, Seok-Woo Yang, Cheong Soo Park, Seok-Mo Kim, SoonWon Hong
Yonsei Medical Journal.2017; 58(1): 255. CrossRef

Multifocal Osteosarcoma of the Skull: Multiple Primary or Metastatic? A Case Report: Hyuck Cho, Bong-jin Park, Yong-Koo Park; Korean J Pathol. 2014;48(2):146-150. Published online April 28, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.2.146

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Abstract PDF

Osteosarcoma of the skull is a very rare condition. Moreover, it is extremely rare for osteosarcoma to present as multiple lesions confined to the skull. A 58-year-old woman was admitted with two masses in the parietal area of the skull, accompanied by mild headache and tenderness. Imaging revealed two masses with a heterogeneous consistency in the cranial bones. Excision craniectomy was performed and the pathology was consistent with osteoblastic osteosarcoma. Two nodules in the heart were found on routine follow-up imaging while the patient was undergoing chemotherapy. The nodules were biopsied and found to be metastatic osteosarcoma.

Citations

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Osteosarcoma multicéntrico sincrónico. Un caso en niño de 10 años y revisión de la literatura
Jesús Pérez-García, Osvaldo Velasco-Donado, Karoll Robles-Pérez
Revista Española de Patología.2022; 55: S11. CrossRef
Reconstruction using a frozen autograft for a skull and humeral lesion of synchronous multicentric osteosarcoma after undergoing successful neoadjuvant chemotherapy: a case report and review of the literature
Yoshihiro Araki, Katsuhiro Hayashi, Norio Yamamoto, Akihiko Takeuchi, Shinji Miwa, Kentaro Igarashi, Takashi Higuchi, Kensaku Abe, Yuta Taniguchi, Hirotaka Yonezawa, Sei Morinaga, Yohei Asano, Takayuki Nojima, Hiroyuki Tsuchiya
BMC Surgery.2021;[Epub] CrossRef
What’s that big thing on your head? Diagnosis of a large frontoparietal lesion on an Eastern Zhou skull from Henan, China
Kate Pechenkina, Wenquan Fan, Xiaodong Luo
International Journal of Paleopathology.2019; 26: 84. CrossRef
Kalvaryumda multifokal osteosarkom: Nadir bir vaka sunumu ve literatür derlemesi
Neslihan KURTUL, Nursel YURTTUTAN, A. Yasir BAHAR, Gökmen AKTAŞ
Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi.2019; 14(3): 151. CrossRef
Radiological review of skull lesions
Carrie K. Gomez, Scott R. Schiffman, Alok A. Bhatt
Insights into Imaging.2018; 9(5): 857. CrossRef
Multifocal Osteosarcoma
Somali Gavane, Anita P. Price, Heather Magnan, Sonia Mahajan, Neeta Pandit-Taskar
Clinical Nuclear Medicine.2017; 42(4): e202. CrossRef

Brief Case Report

Actinomycotic Brain Abscess Developed 10 Years after Head Trauma: Ki Yong Na, Ji-Hye Jang, Ji-Youn Sung, Youn Wha Kim, Yong-Koo Park; Korean J Pathol. 2013;47(1):82-85. Published online February 25, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.1.82

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Citations

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Actinomyeces Cerebral Abscess Masquerading as Tuberculosis: Delayed Presentation following Head Trauma and Scalp Infection
Manish Kumar, Ankur Bajaj, Manjul Tripathi, BishanD Radotra, ManojK Tewari, ChiragK Ahuja
Neurology India.2019; 67(4): 1123. CrossRef

Case Reports

Novel Mutation in PRKAR1A in Carney Complex: Ko Un Park, Hyun-Sook Kim, Seung Kwan Lee, Woon-Won Jung, Yong-Koo Park; Korean J Pathol. 2012;46(6):595-600. Published online December 26, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.6.595

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Abstract PDF

A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase type 11A (PDE11A) gene. This is the first case wherein extensive genetic studies were performed in a patient with Carney complex in Korea.

Citations

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Structures of the PKA RIα Holoenzyme with the FLHCC Driver J-PKAcα or Wild-Type PKAcα
Baohua Cao, Tsan-Wen Lu, Juliana A. Martinez Fiesco, Michael Tomasini, Lixin Fan, Sanford M. Simon, Susan S. Taylor, Ping Zhang
Structure.2019; 27(5): 816. CrossRef
Carney Complex with Multiple Cardiac Myxomas, Pigmented Nodular Adrenocortical Hyperplasia, Epithelioid Blue Nevus, and Multiple Calcified Lesions of the Testis: A Case Report
Hyunchul Kim, Hyun-Yee Cho, Jeong Nam Lee, Kook-Yang Park
Journal of Pathology and Translational Medicine.2016; 50(4): 312. CrossRef

Multifocal Renal Cell Carcinoma of Different Histological Subtypes in Autosomal Dominant Polycystic Kidney Disease: Ki Yong Na, Hyun-Soo Kim, Yong-Koo Park, Sung-Goo Chang, Youn Wha Kim; Korean J Pathol. 2012;46(4):382-386. Published online August 23, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.4.382

7,971 View
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10 Crossref

Abstract PDF

Renal cell carcinoma (RCC) in autosomal dominant polycystic kidney (ADPKD) is rare. To date, 54 cases of RCC in ADPKD have been reported. Among these, only 2 cases have different histologic types of RCC. Here we describe a 45-year-old man who received radical nephrectomy for multifocal RCC with synchronous papillary and clear cell histology in ADPKD and chronic renal failure under regular hemodialysis. The case reported herein is another example of the rare pathological finding of RCC arising in a patient with ADPKD.

Citations

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The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome—Case Series
Petronella Orosz, Zita Kollák, Ákos Pethő, András Fogarasi, György Reusz, Kinga Hadzsiev, Tamás Szabó
Children.2023; 10(3): 420. CrossRef
Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature
Poorva Vias, Shikha Goyal, Renu Madan, Nandita Kakkar, Ridhi Sood, Kannan Periasamy, Rajender Kumar
Indian Journal of Medical and Paediatric Oncology.2023;[Epub] CrossRef
Autosomal dominant polycystic kidney disease coming up with an unusual presentation of renal cell carcinoma on its first encounter
Asma Shoukat Masumdar, Anitha Padmanabhan, Nitin Gadgil, Gargi Padalkar
Indian Journal of Pathology and Oncology.2023; 10(4): 417. CrossRef
Sarcomatoid renal cell carcinoma with autosomal dominant polycystic kidney disease: a case report and literature review
Yuji Hakozaki, Kiyotaka Uchiyama, Akane Yanai, Daisuke Yamada, Yuka Kamijo, Yoshitaka Ishibashi
CEN Case Reports.2021; 10(2): 199. CrossRef
CT and MRI findings of cystic renal cell carcinoma: comparison with cystic collecting duct carcinoma
Qingqiang Zhu, Jun Ling, Jing Ye, Wenrong Zhu, Jingtao Wu, Wenxin Chen
Cancer Imaging.2021;[Epub] CrossRef
Incidental occurrence of papillary renal cell carcinoma in the native kidney with autosomal dominant polycystic kidney disease after renal transplantation: A case report
Mahmoud Abbas, Melanie Pätzel, Angelika Thurn, Olaf Brinkmann, Olaf Bettendorf
Molecular and Clinical Oncology.2021;[Epub] CrossRef
Xp11.2 translocation renal cell carcinoma in the autosomal dominant polycystic kidney disease patient with preserved renal function
Hyuk Huh, Hyung Ah Jo, YongJin Yi, Seung Hyup Kim, Kyung Chul Moon, Curie Ahn, Hayne Cho Park
The Korean Journal of Internal Medicine.2017; 32(6): 1108. CrossRef
The Association between Autosomal Dominant Polycystic Kidney Disease and Renal Cell Carcinoma
Chase C. Hansen, Michael Derrick, Irfan Warriach, James Thomas Cammack, James Thomas Cammack, Werner de Riese
Open Journal of Urology.2015; 05(06): 84. CrossRef
The MSCT and MRI findings of collecting duct carcinoma
Q. Zhu, J. Wu, Z. Wang, W. Zhu, W. Chen, S. Wang
Clinical Radiology.2013; 68(10): 1002. CrossRef
Thyroid-like follicular carcinoma of the kidney in a patient with nephrolithiasis and polycystic kidney disease: a case report
Metka Volavšek, Margareta Strojan-Fležar, Gregor Mikuz
Diagnostic Pathology.2013;[Epub] CrossRef

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