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

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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

A Giant Peritoneal Loose Body: Hyun-Soo Kim, Ji-Youn Sung, Won Seo Park, Youn Wha Kim; Korean J Pathol. 2013;47(4):378-382. Published online August 26, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.4.378

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Abstract PDF

Peritoneal loose bodies (PLBs) are usually discovered incidentally during laparotomy or autopsy. A few cases of giant PLBs presenting with various symptoms have been reported in the literature. Here, we describe a case of a giant PLB incidentally found in the pelvic cavity of a 50-year-old man. Computed tomography revealed a free ovoid mass in the pelvic cavity that consisted of central dense, heterogeneous calcifications and peripheral soft tissue. The mass was an egg-shaped, hard, glistening concretion measuring 7.5×7.0×6.8 cm and weighing 160 g. This concretion consisted of central necrotic fatty tissue surrounded by concentrically laminated, acellular, fibrous material. Small PLBs usually do not require any specific treatment. However, if PLBs cause alimentary or urinary symptoms due to their large size, surgical removal may be recommended. It is essential for clinicians to be aware of this entity and its characteristic features to establish the correct diagnosis.

Citations

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A Case of a Fixed Giant Peritoneal Loose Body outside the Peritoneum and near the Rectovesical Excavation
Kotaro Nanno, Seiichi Shinji, Takeshi Yamada, Akihisa Matsuda, Ryo Ohta, Hiromichi Sonoda, Takuma Iwai, Kohki Takeda, Kazuhide Yonaga, Koji Ueda, Sho Kuriyama, Toshimitsu Miyasaka, Hiromasa Komori, Yoshinobu Shioda, Hiroshi Yoshida
Journal of Nippon Medical School.2023; 90(3): 276. CrossRef
A Large Intraperitoneal Free Body in a 69-Year-Old Indian Man: a Case Study
Siddhartha Sankar Bhattacharjee, Promit Chakraborty
Indian Journal of Surgery.2022; 84(1): 206. CrossRef
Peritoneal loose body presenting as a hepatic mass: A case report and review of the literature
Yang Wen, Min-jie Shang, Yan-qing Ma, Song-hua Fang, Yuan Chen
Open Medicine.2021; 16(1): 1356. CrossRef
Peritoneal Loose Body in a Patient With Ampullary Adenocarcinoma
A.V. Pradeep, Abdul Razik, Ankur Goyal, Atin Kumar, Virinder Kumar Bansal, Asuri Krishna
ACG Case Reports Journal.2021; 8(11): e00680. CrossRef
Exploratory laparoscopy as first choice procedure for the diagnosis of giant peritoneal loose body: a case report
RuiBin Li, ZhiHeng Wan, HaoTian Li
Journal of International Medical Research.2020; 48(10): 030006052095471. CrossRef
A rare peritoneal egg: Case report with literature review
Nilu Malpani Dhoot, Shivaraj Afzalpurkar, Usha Goenka, Vinay Mahendra, Enam Murshed Khan, Arpita Sutradhar, Mahesh Goenka
Radiology Case Reports.2020; 15(10): 1895. CrossRef
A giant peritoneal loose body impacted in the pelvic cavity, a rare and interesting finding during laparotomy
Ayad A. Mohammed
International Journal of Surgery: Global Health.2020; 3(6): e24. CrossRef
Giant Mobile Intraperitoneal Loose Body
Mohd Ilyas, Mohd Yaqoob Wani, Musaib Ahmad Dar, Feroze A. Shaheen
ACG Case Reports Journal.2019; 6(1): e00006. CrossRef
Giant peritoneal loose body in a patient with end-stage renal disease
Nadejda Cojocari, Leonard David
SAGE Open Medical Case Reports.2018; 6: 2050313X1877093. CrossRef
Two giant peritoneal loose bodies were simultaneously found in one patient: A case report and review of the literature
Qingxing Huang, Aihong Cao, Jun Ma, Zhenhua Wang, Jianhong Dong
International Journal of Surgery Case Reports.2017; 36: 74. CrossRef
Laparoscopic extraction of a giant peritoneal loose body: Case report and review of literature
Keiso Matsubara, Yuji Takakura, Takashi Urushihara, Takashi Nishisaka, Toshiyuki Itamoto
International Journal of Surgery Case Reports.2017; 39: 188. CrossRef
Symptomatic giant peritoneal loose body in the pelvic cavity: A case report
Andreas Elsner, Mikolaj Walensi, Maya Fuenfschilling, Robert Rosenberg, Robert Mechera
International Journal of Surgery Case Reports.2016; 21: 32. CrossRef
A Case of a Peritoneal Loose Body with the Maximum Diameter of 50 mm
Yoshihiro MOCHIZUKI, Hiroshi IINO, Michio HARA, Syugo SHIBA, Makoto SUDO, Naoki OISHI, Tetsuo KONDO
Nihon Rinsho Geka Gakkai Zasshi (Journal of Japan Surgical Association).2016; 77(10): 2552. CrossRef
Giant peritoneal loose body in the pelvic cavity confirmed by laparoscopic exploration: a case report and review of the literature
Hong Zhang, Yun-zhi Ling, Ming-ming Cui, Zhi-xiu Xia, Yong Feng, Chun-sheng Chen
World Journal of Surgical Oncology.2015;[Epub] CrossRef

Original Article

Comparison of Three BRAF Mutation Tests in Formalin-Fixed Paraffin Embedded Clinical Samples: Soomin Ahn, Jeeyun Lee, Ji-Youn Sung, So Young Kang, Sang Yun Ha, Kee-Taek Jang, Yoon-La Choi, Jung-Sun Kim, Young Lyun Oh, Kyoung-Mee Kim; Korean J Pathol. 2013;47(4):348-354. Published online August 26, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.4.348

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Abstract PDF

Background

Recently, BRAF inhibitors showed dramatic treatment outcomes in BRAF V600 mutant melanoma. Therefore, the accuracy of BRAF mutation test is critical.

Methods

BRAF mutations were tested by dual-priming oligonucleotide-polymerase chain reaction (DPO-PCR), direct sequencing and subsequently retested with a real-time PCR assay, cobas 4800 V600 mutation test. In total, 64 tumors including 34 malignant melanomas and 16 papillary thyroid carcinomas were analyzed. DNA was extracted from formalin-fixed paraffin embedded tissue samples and the results of cobas test were directly compared with those of DPO-PCR and direct sequencing.

Results

BRAF mutations were found in 23 of 64 (35.9%) tumors. There was 9.4% discordance among 3 methods. Out of 6 discordant cases, 4 cases were melanomas; 3 cases were BRAF V600E detected only by cobas test, but were not detected by DPO-PCR and direct sequencing. One melanoma patient with BRAF mutation detected only by cobas test has been on vemurafenib treatment for 6 months and showed a dramatic response to vemurafenib. DPO-PCR failed to detect V600K mutation in one case identified by both direct sequencing and cobas test.

Conclusions

In direct comparison of the currently available DPO-PCR, direct sequencing and real-time cobas test for BRAF mutation, real-time PCR assay is the most sensitive method.

Citations

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Preoperative BRAFV600E mutation detection in thyroid carcinoma by immunocytochemistry
Kristine Zøylner Swan, Stine Horskær Madsen, Steen Joop Bonnema, Viveque Egsgaard Nielsen, Marie Louise Jespersen
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Strategy to reduce unnecessary surgeries in thyroid nodules with cytology of Bethesda category III (AUS/FLUS): a retrospective analysis of 667 patients diagnosed by surgery
Yong Joon Suh, Yeon Ju Choi
Endocrine.2020; 69(3): 578. CrossRef
A new primer construction technique that effectively increases amplification of rare mutant templates in samples
Jr-Kai Huang, Ling Fan, Tao-Yeuan Wang, Pao-Shu Wu
BMC Biotechnology.2019;[Epub] CrossRef
BRAF and NRAS mutations and antitumor immunity in Korean malignant melanomas and their prognostic relevance: Gene set enrichment analysis and CIBERSORT analysis
Kyueng-Whan Min, Ji-Young Choe, Mi Jung Kwon, Hye Kyung Lee, Ho Suk Kang, Eun Sook Nam, Seong Jin Cho, Hye-Rim Park, Soo Kee Min, Jinwon Seo, Yun Joong Kim, Nan Young Kim, Ho Young Kim
Pathology - Research and Practice.2019; 215(12): 152671. CrossRef
The association between dermoscopic features and BRAF mutational status in cutaneous melanoma: Significance of the blue-white veil
Miquel Armengot-Carbó, Eduardo Nagore, Zaida García-Casado, Rafael Botella-Estrada
Journal of the American Academy of Dermatology.2018; 78(5): 920. CrossRef
Comparison of Five Different Assays for the Detection of BRAF Mutations in Formalin-Fixed Paraffin Embedded Tissues of Patients with Metastatic Melanoma
Claire Franczak, Julia Salleron, Cindy Dubois, Pierre Filhine-Trésarrieu, Agnès Leroux, Jean-Louis Merlin, Alexandre Harlé
Molecular Diagnosis & Therapy.2017; 21(2): 209. CrossRef
Validation of an NGS mutation detection panel for melanoma
Anne Reiman, Hugh Kikuchi, Daniela Scocchia, Peter Smith, Yee Wah Tsang, David Snead, Ian A Cree
BMC Cancer.2017;[Epub] CrossRef
Transformation to Small Cell Lung Cancer of Pulmonary Adenocarcinoma: Clinicopathologic Analysis of Six Cases
Soomin Ahn, Soo Hyun Hwang, Joungho Han, Yoon-La Choi, Se-Hoon Lee, Jin Seok Ahn, Keunchil Park, Myung-Ju Ahn, Woong-Yang Park
Journal of Pathology and Translational Medicine.2016; 50(4): 258. CrossRef
Immunohistochemistry with the anti-BRAF V600E (VE1) antibody: impact of pre-analytical conditions and concordance with DNA sequencing in colorectal and papillary thyroid carcinoma
Katerina Dvorak, Birte Aggeler, John Palting, Penny McKelvie, Andrew Ruszkiewicz, Paul Waring
Pathology.2014; 46(6): 509. CrossRef

Brief Case Report

Ovarian Remnant Syndrome at the Trochar Site: A Report of a Rare Complication Following Laparoscopic Ovarian Surgery: Ki Yong Na, Ji-Youn Sung, Kyu Yeoun Won, Gou Young Kim, Sung-Jig Lim, Suk-Hwan Lee; Korean J Pathol. 2013;47(3):304-306. Published online June 25, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.3.304

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Citations

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Síndrome de ovario remanente. Revisión bibliográfica. Evidencia actual
M. Arnáez de la Cruz, J. Gallardo Martínez
Clínica e Investigación en Ginecología y Obstetricia.2023; 50(4): 100902. CrossRef
Clear cell carcinoma arising in an ovarian remnant 19 years after oophoerctomy: case report
Ting-ting Yao, Shao-jie Zhao, Bing Zhang
BMC Women's Health.2023;[Epub] CrossRef
Clear-Cell Carcinoma Developing in Remnant Ovary After Hysterectomy and Bilateral Salpingo-Oophorectomy for Endometriosis
Satoshi Ichigo, Hiroshi Takagi, Kazutoshi Matsunami, Takayuki Murase, Tsuneko Ikeda, Atsushi Imai
Journal of Gynecologic Surgery.2014; 30(2): 114. CrossRef
Malignant neoplasia arising from ovarian remnants following bilateral salpingo-oophorectomy (Review)
ATSUSHI IMAI, KAZUTOSHI MATSUNAMI, HIROSHI TAKAGI, SATOSHI ICHIGO
Oncology Letters.2014; 8(1): 3. CrossRef

Case Study

Papillary Carcinoma of the Thyroid Gland with Nodular Fasciitis-like Stroma: Ki Yong Na, Hyun-Soo Kim, Ji-Youn Sung, Won Seo Park, Youn Wha Kim; Korean J Pathol. 2013;47(2):167-171. Published online April 24, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.2.167

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Abstract PDF

Papillary thyroid carcinoma with nodular fasciitis-like stroma (PTC-NFS) is a rare variant of PTC. The term 'PTC with fibromatosis-like stroma' has been used as a synonym to describe this variant. It is characterized by extensive proliferation of fibroblasts and myofibroblasts in the tumor stroma, which occurs in up to 80% of the tumors. We herein describe a case of PTC-NFS which developed in a 49-year-old woman with the demonstration of findings of ultrasonography, fine needle aspiration cytology and histological examination of the lesion. To characterize the stromal components, we investigated the expression of several immunohistochemical markers which have been shown to be expressed differently in nodular fasciitis (NF) and fibromatosis (FM). The immunostaining results demonstrated nuclear and cytoplasmic accumulation of β-catenin, cytoplasmic transforming growth factor-β expression and nuclear Smad expression in the stromal cells, suggesting that the stromal cells in this case have similar molecular profiles to those of FM rather than NF.

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Human Pathology.2023; 136: 84. CrossRef
Papillary Thyroid Carcinoma with Desmoid-Type Fibromatosis: Review of Published Cases
Abdallah Roukain, Stefano La Rosa, Massimo Bongiovanni, Marie Nicod Lalonde, Valérie Cristina, Michael Montemurro, Stephane Cochet, Alexandra Luquain, Peter A. Kopp, Gerasimos P. Sykiotis
Cancers.2021; 13(17): 4482. CrossRef
Case of medullary thyroid carcinoma with desmoid‐type fibromatosis
Yoon Ah Cho, Young Lyun Oh
Pathology International.2020; 70(6): 364. CrossRef
SOX11 expression in a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma containing BRAF c.1799_1801delTGA and CTNNB1 c.133T>C mutations
Soon Boon Justin Wong, Min En Nga, Michal Michal, Tomas Vanecek, Ju Ee Seet, Fredrik Petersson
Virchows Archiv.2019; 475(4): 519. CrossRef
Papillary thyroid cancer with extrathyroidal extension of desmoid-type fibromatosis. A case report of an aggressive presentation of an uncommon pathologic entity
Eve M. Roth, Courtney E. Barrows, Michiya Nishino, Barry Sacks, Per-Olof Hasselgren, Benjamin C. James
International Journal of Surgery Case Reports.2019; 63: 5. CrossRef
Papillary thyroid carcinoma with nodular fasciitis-like stroma and β-catenin mutations should be renamed papillary thyroid carcinoma with desmoid-type fibromatosis
Caterina Rebecchini, Antoine Nobile, Simonetta Piana, Rossella Sarro, Bettina Bisig, Sykiotis P Gerasimos, Chiara Saglietti, Maurice Matter, Laura Marino, Massimo Bongiovanni
Modern Pathology.2017; 30(2): 236. CrossRef
Papillary thyroid carcinoma with desmoid-type fibromatosis: A clinical, pathological, and immunohistochemical study of 14 cases
Nami Takada, Mitsuyoshi Hirokawa, Masahiro Ito, Aki Ito, Ayana Suzuki, Miyoko Higuchi, Seiji Kuma, Toshitetsu Hayashi, Masao Kishikawa, Shuichi Horikawa, Akira Miyauchi
Endocrine Journal.2017; 64(10): 1017. CrossRef
A Case of Papillary Thyroid Carcinoma with Fasciitis-like Stroma
Toshihiko WAKU, Hiroshi SONOBE
Nihon Rinsho Geka Gakkai Zasshi (Journal of Japan Surgical Association).2016; 77(12): 2892. CrossRef
Stromal Modulation and its Role in the Diagnosis of Papillary Patterned Thyroid Lesions
Sahar Aly Daoud, Reham Shehab El Nemr Esmail, Amal Ahmed Hareedy, Abdullah Khalil
Asian Pacific Journal of Cancer Prevention.2015; 16(8): 3307. CrossRef
Papillary Thyroid Carcinoma With Nodular Fasciitis–Like Stroma
Paula S. Ginter, Theresa Scognamiglio
International Journal of Surgical Pathology.2015; 23(4): 305. CrossRef
Notch and TGF-β/Smad3 pathways are involved in the interaction between cancer cells and cancer-associated fibroblasts in papillary thyroid carcinoma
Jie Zhang, Yuan Wang, Dan Li, Shanghua Jing
Tumor Biology.2014; 35(1): 379. 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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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

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