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

Ewing’s Sarcoma Presenting in the Paranasal Sinus – A Case Report
Yashika Kewalramani, Ajay Parihar, Prashanthi Reddy, Rashi Mandlik
Annals of Maxillofacial Surgery.2024;[Epub] 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

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 Studies

Extrapelvic Uterus-like Masses Presenting as Colonic Submucosal Tumor: A Case Study and Review of Literature: Ki Yong Na, Gou Young Kim, Kyu Yeoun Won, Hyun-Soo Kim, Sang Won Kim, Chi Hoon Lee, Jae Myung Cha; Korean J Pathol. 2013;47(2):177-181. Published online April 24, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.2.177

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Abstract PDF

A uterus-like mass (ULM) is a central cavity lined by endometrial glands and stroma and surrounded by thick-walled smooth muscles. To date, 31 cases of ULM have been reported in the English literature. ULM typically presents as a single mass and is located in the pelvic cavity. We report here a very rare case of multiple extrapelvic ULMs involving the cecum, descending colon, and mesocolon. After extensive literature research, our case appears to be the first case of multiple ULMs found in extrapelvic sites and the first case of ULM in the colon. The present case suggests that ULM should be included in the differential diagnosis of colonic submucosal tumors in female patients with chronic abdominal pain or menstruation-associated symptoms.

Citations

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Extrauterine adenomyoma: A case report and systematic review of the literature
Matteo Giorgi, Luca Labanca, Gabriele Centini, Lucia Lazzeri, Francesco Giuseppe Martire, Ester Sorrentino, Virginia Mancini, Diego Raimondo, Antonio Raffone, Daniele Neola, Anna Chiara Aru, Nassir Habib, Paolo Casadio, Renato Seracchioli, Errico Zupi
International Journal of Gynecology & Obstetrics.2024; 164(3): 869. CrossRef
Extrapelvic “Uterus Like Mass” Following Laparoscopic Morcellation Hysterectomy - a Consequence of Iatrogenic Implantation?
Neha Bakshi, Shashi Dhawan
International Journal of Surgical Pathology.2023; 31(5): 791. CrossRef
Extrauterine adenomyoma of the lesser omentum: A case report and review of the literature
Yanlin Chen, Liangyong Deng, Jingbo Zhao, Tianwen Luo, Zhong Zuo
Medicine.2022; 101(36): e30240. CrossRef
Pelvic Pain and Adnexal Mass: Be Aware of Accessory and Cavitated Uterine Mass
Pooya Iranpour, Sara Haseli, Pedram Keshavarz, Amirreza Dehghanian, Neda Khalili, Michael S. Firstenberg
Case Reports in Medicine.2021; 2021: 1. CrossRef
Endomyometriosis of the Rectum With Disseminated Peritoneal Leiomyomatosis 8 Years After Laparoscopic Myomectomy: A Case Report
Giorgio La Greca, Cristina Colarossi, Paolo Di Mattia, Cecilia Gozzo, Marco De Zuanni, Eliana Piombino, Lorenzo Memeo
Frontiers in Surgery.2021;[Epub] CrossRef
Imaging Manifestations of Accessory Cavitated Uterine Mass—A Rare Mullerian Anomaly
Tharani Putta, Reetu John, Betty Simon, Kirthi Sathyakumar, Anuradha Chandramohan, Anu Eapen
Indian Journal of Radiology and Imaging.2021; 31(03): 545. CrossRef
A rare case of ovarian adenomyoma mimicking primary invasive ovarian cancer with a contralateral serous borderline ovarian tumor: A case report and review of the literature
Viola Liberale, Alessandra Surace, Lorenzo Daniele, Luca Liban Mariani
Heliyon.2020; 6(7): e04406. CrossRef
Extrauterine adenomyoma located in the inguinal region: a case report of a 44-year-old woman
Winesh Ramphal, Chloé M L Peters, Luthy S M Alcalá, Dennis van Hamont, Paul D Gobardhan
Journal of Surgical Case Reports.2020;[Epub] CrossRef
Accessory and Cavitated Uterine Mass: Is It a Müllerian-Duct Anomaly?
Vani Malhotra, Sonia Dahiya, Smiti Nanda, Meenakshi Chauhan, Vandana Bhuria
Journal of Gynecologic Surgery.2020; 36(6): 350. CrossRef
Uterus-like mass in the right broad ligament
Lei Liu, Hui Yang, Shu-Peng Zhang
Medicine.2019; 98(38): e17246. CrossRef
Extrauterine adenomyoma: a review of the literature
P.G. Paul, Gunjan Gulati, Hemant Shintre, Sumina Mannur, George Paul, Santwan Mehta
European Journal of Obstetrics & Gynecology and Reproductive Biology.2018; 228: 130. CrossRef
Uterus-like mass
Jian He, Jie Xu, Hong-Yan Zhou
Medicine.2016; 95(39): e4961. CrossRef
Endometrioid Adenocarcinoma in an Extrauterine Adenomyoma
Michael A. Ulm, David B. Robins, Edwin M. Thorpe, Mark E. Reed
Obstetrics & Gynecology.2014; 124(2): 445. CrossRef
Endomyometriosis (“Uterus - like mass”) in an XY Male
Raul S. González, Cindy L. Vnencak-Jones, Chanjuan Shi, Oluwole Fadare
International Journal of Surgical Pathology.2014; 22(5): 421. CrossRef

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.

Citations

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Papillary thyroid carcinoma with desmoid-type fibromatosis: the clinicopathological features with characteristic imaging and molecular correlation requiring comprehensive treatment
Haining Huang, Lei Li, Xiaolong Liu, Lihua Zhao, Zhihong Cui, Renya Zhang, Shuai Chen
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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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

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

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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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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.2024; 45(02): 188. CrossRef
Detection of two synchronous histologically different renal cell carcinoma subtypes in the same kidney: a case report and review of the literature
Mohamed Sakr, Merhan Badran, Sarah Ahmed Hassan, Mohamed Elsaqa, Mohamed Anwar Elwany, Nevine M. F. El Deeb, Mohamed Sharafeldeen
Journal of Medical Case Reports.2024;[Epub] CrossRef
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
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

Angiomyomatous Hamartoma of Popliteal Lymph Nodes Occurring in Association with Diffuse Pigmented Villonodular Synovitis of Knee.: Hyun Soo Kim, Ki Yong Na, Jae Hoon Lee, Nam Su Cho, Gou Young Kim, Sung Jig Lim; Korean J Pathol. 2011;45:S58-S61.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.S1.S58

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Abstract PDF: We report the first case of an angiomyomatous hamartoma (AH) of the popliteal lymph nodes (LNs) occurring in association with diffuse pigmented villonodular synovitis (PVNS) of the knee. AH is a rare benign vascular disease with a predisposition for the LNs of the inguinal region. Twenty-five cases of AH have been reported to date; however, the precise pathogenesis is still undetermined. In the present case, an open synovectomy revealed two of three popliteal LNs in close proximity to the extra-articular component of diffuse PVNS. These LNs demonstrated irregularly distributed thick-walled blood vessels in the hilum. These vessels extended into the medulla and cortex and were associated with haphazardly arranged smooth muscle cells in the sclerotic stroma. These findings are compatible with an AH. Our observations raise the possibility that AH of the popliteal LNs may represent an abnormal proliferative reaction against the inflammatory process caused by PVNS of the knee.

Original Article

14-bp Insertion/Deletion Polymorphism of the HLA-G Gene in Osteosarcoma Patients.: Ahrim Moon, Su Kang Kim, Joo Ho Chung, Ki Yong Na, Liliana G Olvi, Eduardo Santini-Araujo, Youn Wha Kim, Yong Koo Park; Korean J Pathol. 2011;45(5):485-490.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.5.485

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Abstract PDF

BACKGROUND
The major histocompatibility complex class I, G (human leukocyte antigen-G [HLA-G]) gene plays a vital role in the suppression of immune responses. Recently, a number of studies have reported an association between HLA-G and diseases (pregnancy complications, organ transplantation, and tumors). Some of the studies have revealed that the 14-bp insertion/deletion polymorphism might be associated with various diseases. The aim of the present study was to explore a possible influence of the 14-bp insertion/deletion polymorphism on osteosarcoma.
METHODS
Genomic DNA was extracted from 75 formalin-fixed, paraffin-embedded tumor tissues derived from patients with conventional osteosarcoma (OSA) and 183 peripheral blood samples of healthy controls. Fifty-eight cases were South Korean patients with OSA and 17 cases were Argentine patients with OSA. The HLA-G 14-bp insertion/deletion polymorphism at exon 8 of the HLA-G locus was analyzed by polymerase chain reaction.
RESULTS
There was a significantly different distribution profile for the 14-bp genotypes between the Korean OSA and Korean control groups. Specifically, there were more heterozygote 210 bp/224 bp genotypes in the Korean OSA group when compared to the Korean control group (62.1% vs 40.4%, p=0.002).
CONCLUSIONS
The results suggest that HLA-G heterozygote patients may be more susceptible to OSA in the Korean population.

Citations

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14-bp Insertion/Deletion Polymorphism of the HLA-G gene in Breast Cancer among Women from North Western Iran
Mehdi Haghi, Mohammad Ali Hosseinpour Feizi, Majid Sadeghizadeh, Abbas Sahebghadam Lotfi
Asian Pacific Journal of Cancer Prevention.2015; 16(14): 6155. CrossRef

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