Citations

Citations to this article as recorded by  

• Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma
  Susan Richter, Nicole Bechmann
  Journal of the Endocrine Society.2024;[Epub]     CrossRef
• Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients
  Chong Li, Jingyi Li, Chao Han, Ting Wang, Lixia Zhang, Zhifang Wang, Tingting Wang, Lijun Xu, Guangzhao Qi, Guijun Qin, Xialian Li, Lili Zheng
  Frontiers in Genetics.2023;[Epub]     CrossRef
• Genetic Study in Pheochromocytoma: Is It Possible to Stratify the Risk of Hereditary Pheochromocytoma?
  Marta Araujo-Castro, César Mínguez Ojeda, Iñigo García Sanz, Maria Calatayud, Felicia Hanzu, Mireia Mora, Almudena Vicente, Concepción Blanco Carrera, Paz de Miguel Novoa, María del Carmen López García, Cristina Lamas, Laura Manjón-Miguélez, María del Cas
  Neuroendocrinology.2023; 113(6): 657.     CrossRef
• The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis
  Petra Hudler, Mojca Urbancic
  Genes.2022; 13(2): 362.     CrossRef
• Bilateral Pheochromocytoma with Germline MAX Variant without Family History
  Shinnosuke Hata, Mai Asano, Hiroyuki Tominaga, Masahide Hamaguchi, Fumiya Hongo, Takeshi Usui, Eiichi Konishi, Michiaki Fukui
  Clinics and Practice.2022; 12(3): 299.     CrossRef
• Diagnosis for Pheochromocytoma and Paraganglioma: A Joint Position Statement of the Korean Pheochromocytoma and Paraganglioma Task Force
  Eu Jeong Ku, Kyoung Jin Kim, Jung Hee Kim, Mi Kyung Kim, Chang Ho Ahn, Kyung Ae Lee, Seung Hun Lee, You-Bin Lee, Kyeong Hye Park, Yun Mi Choi, Namki Hong, A Ram Hong, Sang-Wook Kang, Byung Kwan Park, Moon-Woo Seong, Myungshin Kim, Kyeong Cheon Jung, Chan
  Endocrinology and Metabolism.2021; 36(2): 322.     CrossRef
• Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma
  Masato Yonamine, Koichiro Wasano, Yuichi Aita, Takehito Sugasawa, Katsutoshi Takahashi, Yasushi Kawakami, Hitoshi Shimano, Hiroyuki Nishiyama, Hisato Hara, Mitsuhide Naruse, Takahiro Okamoto, Tadashi Matsuda, Shinji Kosugi, Kazuhiko Horiguchi, Akiyo Tanab
  Cancers.2021; 13(16): 4014.     CrossRef
• Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas
  Yinjie Gao, Chao Ling, Xiaosen Ma, Huiping Wang, Yunying Cui, Min Nie, Anli Tong, Dario De Biase
  International Journal of Endocrinology.2021; 2021: 1.     CrossRef

Anaplastic thyroid cancer (ATC) is a lethal human cancer with a 5-year survival rate of less than 10%. Recently, its genomic and transcriptomic characteristics have been extensively elucidated over 5 years owing to advance in high throughput sequencing. These efforts have extended molecular understandings into the progression mechanisms and therapeutic vulnerabilities of aggressive thyroid cancers. In this review, we provide an overview of genomic and transcriptomic alterations in ATC and poorly-differentiated thyroid cancer, which are distinguished from differentiated thyroid cancers. Clinically relevant genomic alterations and deregulated signaling pathways will be able to shed light on more effective prevention and stratified therapeutic interventions for affected patients.

Citations

Citations to this article as recorded by  

• The genomic and evolutionary landscapes of anaplastic thyroid carcinoma
  Peter Y.F. Zeng, Stephenie D. Prokopec, Stephen Y. Lai, Nicole Pinto, Michelle A. Chan-Seng-Yue, Roderick Clifton-Bligh, Michelle D. Williams, Christopher J. Howlett, Paul Plantinga, Matthew J. Cecchini, Alfred K. Lam, Iram Siddiqui, Jianxin Wang, Ren X.
  Cell Reports.2024; 43(3): 113826.     CrossRef
• Comparative study between poorly differentiated thyroid cancer and anaplastic thyroid cancer: real-world pathological distribution, death attribution, and prognostic factor estimation
  Kun Zhang, Xinyi Wang, Tao Wei, Zhihui Li, Jingqiang Zhu, Ya-Wen Chen
  Frontiers in Endocrinology.2024;[Epub]     CrossRef
• Dabrafenib and Trametinib Therapy for Advanced Anaplastic Thyroid Cancer – Real-World Outcomes From UK Centres
  C. Lorimer, L. Cheng, R. Chandler, K. Garcez, V. Gill, K. Graham, W. Grant, S. Sardo Infirri, J. Wadsley, L. Wall, N. Webber, K.H. Wong, K. Newbold
  Clinical Oncology.2023; 35(1): e60.     CrossRef
• MicroRNA expression profiling of RAS-mutant thyroid tumors with follicular architecture: microRNA signatures to discriminate benign from malignant lesions
  E. Macerola, A. M. Poma, P. Vignali, A. Proietti, L. Torregrossa, C. Ugolini, A. Basolo, A. Matrone, R. Elisei, F. Santini, F. Basolo
  Journal of Endocrinological Investigation.2023; 46(8): 1651.     CrossRef
• RBX1 regulates PKM alternative splicing to facilitate anaplastic thyroid carcinoma metastasis and aerobic glycolysis by destroying the SMAR1/HDAC6 complex
  Debin Xu, Jichun Yu, Yuting Yang, Yunyan Du, Hongcheng Lu, Shouhua Zhang, Qian Feng, Yi Yu, Liang Hao, Jun Shao, Leifeng Chen
  Cell & Bioscience.2023;[Epub]     CrossRef
• Multi-Omics and Management of Follicular Carcinoma of the Thyroid
  Thifhelimbilu Emmanuel Luvhengo, Ifongo Bombil, Arian Mokhtari, Maeyane Stephens Moeng, Demetra Demetriou, Claire Sanders, Zodwa Dlamini
  Biomedicines.2023; 11(4): 1217.     CrossRef
• Genomic landscape of anaplastic thyroid cancer and implications on therapy
  Leslie Cheng, Kate Newbold
  Current Opinion in Endocrine and Metabolic Research.2023; 30: 100458.     CrossRef
• Modeling the tumor microenvironment of anaplastic thyroid cancer: an orthotopic tumor model in C57BL/6 mice
  Zhen Xu, Hyo Shik Shin, Yoo Hyung Kim, Seong Yun Ha, Jae-Kyung Won, Su-jin Kim, Young Joo Park, Sareh Parangi, Sun Wook Cho, Kyu Eun Lee
  Frontiers in Immunology.2023;[Epub]     CrossRef
• Characterization of the genomic alterations in poorly differentiated thyroid cancer
  Yeeun Lee, SeongRyeol Moon, Jae Yeon Seok, Joon-Hyop Lee, Seungyoon Nam, Yoo Seung Chung
  Scientific Reports.2023;[Epub]     CrossRef
• Genetica del carcinoma anaplastico della tiroide
  Teresa Ramone, Chiara Mulè, Cristina Romei, Raffaele Ciampi, Eleonora Molinaro, Rossella Elisei
  L'Endocrinologo.2022; 23(2): 208.     CrossRef
• Tissue and circulating PD-L2: moving from health and immune-mediated diseases to head and neck oncology
  Elena Muraro, Rebecca Romanò, Giuseppe Fanetti, Emanuela Vaccher, Irene Turturici, Valentina Lupato, Fabio Biagio La Torre, Jerry Polesel, Elisabetta Fratta, Vittorio Giacomarra, Giovanni Franchin, Agostino Steffan, Michele Spina, Salvatore Alfieri
  Critical Reviews in Oncology/Hematology.2022; 175: 103707.     CrossRef
• Recent Improvements in the Treatment of High-Risk Thyroid Cancer
  Eun Kyung Lee
  Korean Society for Head and Neck Oncology.2022; 38(1): 1.     CrossRef
• Inhibition of Glycogen Metabolism Induces Reactive Oxygen Species-Dependent Cytotoxicity in Anaplastic Thyroid Cancer in Female Mice
  Cole D Davidson, Jennifer A Tomczak, Eyal Amiel, Frances E Carr
  Endocrinology.2022;[Epub]     CrossRef
• Survival prognostic factors for differentiated thyroid cancer patients with pulmonary metastases: A systematic review and meta-analysis
  Hao Zhao, Chun-Hao Liu, Yue Cao, Li-Yang Zhang, Ya Zhao, Yue-Wu Liu, Hong-Feng Liu, Yan-Song Lin, Xiao-Yi Li
  Frontiers in Oncology.2022;[Epub]     CrossRef
• 2021 American Thyroid Association Guidelines for Management of Patients with Anaplastic Thyroid Cancer
  Keith C. Bible, Electron Kebebew, James Brierley, Juan P. Brito, Maria E. Cabanillas, Thomas J. Clark, Antonio Di Cristofano, Robert Foote, Thomas Giordano, Jan Kasperbauer, Kate Newbold, Yuri E. Nikiforov, Gregory Randolph, M. Sara Rosenthal, Anna M. Saw
  Thyroid.2021; 31(3): 337.     CrossRef
• Intratumoral Heterogeneity in Differentiated Thyroid Tumors: An Intriguing Reappraisal in the Era of Personalized Medicine
  Antonio Ieni, Roberto Vita, Cristina Pizzimenti, Salvatore Benvenga, Giovanni Tuccari
  Journal of Personalized Medicine.2021; 11(5): 333.     CrossRef
• The Role of Altered Mitochondrial Metabolism in Thyroid Cancer Development and Mitochondria-Targeted Thyroid Cancer Treatment
  Siarhei A. Dabravolski, Nikita G. Nikiforov, Alexander D. Zhuravlev, Nikolay A. Orekhov, Liudmila M. Mikhaleva, Alexander N. Orekhov
  International Journal of Molecular Sciences.2021; 23(1): 460.     CrossRef
• Mechanisms of TERT Reactivation and Its Interaction with BRAFV600E
  Young Shin Song, Young Joo Park
  Endocrinology and Metabolism.2020; 35(3): 515.     CrossRef

The identification of disease-causing genetic variations is an important goal in the field of genetics. Advancements in genetic technology have changed scientific knowledge and made it possible to determine the basic mechanism and pathogenesis of human disorders rapidly. Many endocrine disorders are caused by genetic variations of a single gene or by mixed genetic factors. Various genetic testing methods are currently available, enabling a more precise diagnosis of many endocrine disorders and facilitating the development of a concrete therapeutic plan. In this review article, we discuss genetic testing technologies for genetic endocrine disorders, with relevant examples. We additionally describe our research on implementing genetic analysis strategies to identify novel causal mutations in hypocalcemia-related disorders.

Since the release of The Cancer Genome Atlas study of papillary thyroid carcinoma (PTC) in 2014, additional genomic studies of differentiated thyroid carcinoma (DTC) using massively-parallel sequencing (MPS) have been published. Recent advances in MPS technology have started to provide important insights into the molecular pathogenesis of DTC. In the genomic landscape, the most recurrently altered genes in DTC, which has a low mutational burden relative to other cancers, are BRAF, RAS, and fusion genes. Some novel driver candidates also have been identified. The frequency of these genomic alterations varies across the subtypes of DTC (classical PTC, follicular variant of PTC, and follicular thyroid carcinoma). Telomerase reverse transcriptase (TERT) promoter mutations are the alteration that makes the most important contribution to the progression of DTC. In the transcriptomic landscape, DTC can be classified according to its gene expression profile, and each subtype has a distinct mutational profile, intracellular signaling output, and clinicopathological characteristics. Herein, we review the results of genomic studies using MPS technology, and describe the types and frequencies of genomic alterations according to histological classifications of DTC and the characteristics and significance of the gene expression signatures of DTC.

Citations

Citations to this article as recorded by  

• Radiation-Related Thyroid Cancer
  Vladimir Saenko, Norisato Mitsutake
  Endocrine Reviews.2024; 45(1): 1.     CrossRef
• TERT RNAscope analysis of sub-centimetric papillary thyroid carcinomas and synchronous lymph node metastases
  Marie-Lisa Eich, Wiebke Jeske, Uschi Zenz, Costanza Chiapponi, Christina Alidousty, Sabine Merkelbach-Bruse, Reinhard Büttner, Anne M. Schultheis
  Thyroid Research.2024;[Epub]     CrossRef
• Molecular testing in fine‐needle aspiration of thyroid nodules
  Valarie McMurtry, Sule Canberk, Georgios Deftereos
  Diagnostic Cytopathology.2023; 51(1): 36.     CrossRef
• A Triumvirate:
  Jaylou M. Velez Torres, Youley Tjendra, Darcy A. Kerr
  Surgical Pathology Clinics.2023; 16(1): 1.     CrossRef
• Current Status and Prospects of Chemotherapy in Treatment of Distant Metastatic or Recurrent Thyroid Cancer
  T. Yamazaki
  Nihon Kikan Shokudoka Gakkai Kaiho.2023; 74(2): 141.     CrossRef
• FDG uptake reflects an immune‐enriched subtype of thyroid cancer: Clinical implications of imaging‐based molecular characterization
  Hoon Young Suh, Hongyoon Choi, Sun Wook Cho, Jin Chul Paeng, Gi Jeong Cheon, Young Joo Park, Keon Wook Kang
  Cancer Medicine.2023; 12(16): 17068.     CrossRef
• Advances in transcriptomics and proteomics in differentiated thyroid cancer: An updated perspective (Review)
  Shici Yang, Gaohong Zhu, Rui He, Dong Fang, Jiaojiao Feng
  Oncology Letters.2023;[Epub]     CrossRef
• Different Molecular Phenotypes of Progression in BRAF- and RAS-Like Papillary Thyroid Carcinoma
  Jinsun Lim, Han Sai Lee, Jiyun Park, Kyung-Soo Kim, Soo-Kyung Kim, Yong-Wook Cho, Young Shin Song
  Endocrinology and Metabolism.2023; 38(4): 445.     CrossRef
• Anaplastic thyroid cancer: Pathogenesis, prognostic factors and genetic landscape (Review)
  Abdul-Mohsen Alhejaily, Omar Alhuzim, Yazeed Alwelaie
  Molecular and Clinical Oncology.2023;[Epub]     CrossRef
• Comparative Analysis of Driver Mutations and Transcriptomes in Papillary Thyroid Cancer by Region of Residence in South Korea
  Jandee Lee, Seonhyang Jeong, Hwa Young Lee, Sunmi Park, Meesson Jeong, Young Suk Jo
  Endocrinology and Metabolism.2023; 38(6): 720.     CrossRef
• Problems of follicular thyroid carcinoma diagnostics
  S. E. Titov, S. A. Lukyanov, S. V. Sergiyko, Yu. A. Veryaskina, T. E. Ilyina, E. S. Kozorezov, S. L. Vorobyov
  Head and Neck Tumors (HNT).2023; 13(3): 10.     CrossRef
• Resistance to RET targeted therapy in Thyroid Cancer: Molecular basis and overcoming strategies
  María San Román-Gil, Javier Pozas, Diana Rosero-Rodríguez, Jesús Chamorro-Pérez, Álvaro Ruiz-Granados, Ignacio Ruz Caracuel, Enrique Grande, Javier Molina-Cerrillo, Teresa Alonso-Gordoa
  Cancer Treatment Reviews.2022; 105: 102372.     CrossRef
• Non-Iodine-Avid Disease Is Highly Prevalent in Distant Metastatic Differentiated Thyroid Cancer With Papillary Histology
  Myat Han Soe, Janet M Chiang, Robert R Flavell, Elham Khanafshar, Laura Mendoza, Hyunseok Kang, Chienying Liu
  The Journal of Clinical Endocrinology & Metabolism.2022; 107(8): e3206.     CrossRef
• Recent Improvements in the Treatment of High-Risk Thyroid Cancer
  Eun Kyung Lee
  Korean Society for Head and Neck Oncology.2022; 38(1): 1.     CrossRef
• Prognosis of Patients with 1–4 cm Papillary Thyroid Cancer Who Underwent Lobectomy: Focus on Gross Extrathyroidal Extension Invading Only the Strap Muscles
  Ahreum Jang, Meihua Jin, Won Woong Kim, Min Ji Jeon, Tae-Yon Sung, Dong Eun Song, Tae Yong Kim, Ki-Wook Chung, Won Bae Kim, Young Kee Shong, Yu-Mi Lee, Won Gu Kim
  Annals of Surgical Oncology.2022; 29(12): 7835.     CrossRef
• Tackling Thyroid Cancer in Europe—The Challenges and Opportunities
  Denis Horgan, Dagmar Führer-Sakel, Paula Soares, Clara V. Alvarez, Laura Fugazzola, Romana T. Netea-Maier, Barbara Jarzab, Marta Kozaric, Beate Bartes, James Schuster-Bruce, Luigino Dal Maso, Martin Schlumberger, Furio Pacini
  Healthcare.2022; 10(9): 1621.     CrossRef
• The role of EZH1 and EZH2 in development and cancer
  Soo Hyun Lee, Yingying Li, Hanbyeol Kim, Seounghyun Eum, Kyumin Park, Chul-Hwan Lee
  BMB Reports.2022; 55(12): 595.     CrossRef
• The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer
  Justyna Mika, Wojciech Łabaj, Mykola Chekan, Agata Abramowicz, Monika Pietrowska, Andrzej Polański, Piotr Widłak
  Journal of Applied Genetics.2021; 62(1): 115.     CrossRef
• Signal transducer and activator of transcription 3 inhibition alleviates resistance to BRAF inhibition in anaplastic thyroid cancer
  Ying Wang, Zhigang Hu, Weiyuan Ma, Yong Niu, Jingwei Su, Lingxiang Zhang, Pengxin Zhao
  Investigational New Drugs.2021; 39(3): 764.     CrossRef
• Thyroid Cancer Identified After Positron Emission Tomography (PET) Shows Aggressive Histopathology
  Tim Beck, Ning Zhang, Akeesha Shah, Sarah Khoncarly, Christopher McHenry, Judy Jin
  Journal of Surgical Research.2021; 260: 245.     CrossRef
• Associations between artificial light at night and risk for thyroid cancer: A large US cohort study
  Dong Zhang, Rena R. Jones, Peter James, Cari M. Kitahara, Qian Xiao
  Cancer.2021; 127(9): 1448.     CrossRef
• Association of Hyperparathyroidism and Papillary Thyroid Cancer: A Multicenter Retrospective Study (Endocrinol Metab 2020;35:925-32, Chaiho Jeong et al.)
  Chaiho Jeong, Jeonghoon Ha, Moo Il Kang
  Endocrinology and Metabolism.2021; 36(1): 205.     CrossRef
• Intratumoral Heterogeneity in Differentiated Thyroid Tumors: An Intriguing Reappraisal in the Era of Personalized Medicine
  Antonio Ieni, Roberto Vita, Cristina Pizzimenti, Salvatore Benvenga, Giovanni Tuccari
  Journal of Personalized Medicine.2021; 11(5): 333.     CrossRef
• Silencing circRNA protein kinase C iota (circ-PRKCI) suppresses cell progression and glycolysis of human papillary thyroid cancer through circ-PRKCI/miR-335/E2F3 ceRNA axis
  Yan Liu, Gen Chen, Bo Wang, Hanjin Wu, Yi Zhang, Hui Ye
  Endocrine Journal.2021; 68(6): 713.     CrossRef
• Multiparametric Photoacoustic Analysis of Human Thyroid Cancers In Vivo
  Jeesu Kim, Byullee Park, Jeonghoon Ha, Idan Steinberg, Sarah M. Hooper, Chaiho Jeong, Eun-Yeong Park, Wonseok Choi, Tie Liang, Ja Seong Bae, Ravi Managuli, Yongmin Kim, Sanjiv S. Gambhir, Dong-Jun Lim, Chulhong Kim
  Cancer Research.2021; 81(18): 4849.     CrossRef
• Thyroid Cancer Risk Factors in Children with Thyroid Nodules: A One-Center Study
  Iwona Ben-Skowronek, Joanna Sieniawska, Emilia Pach, Wiktoria Wrobel, Anna Skowronek, Zaklina Tomczyk, Anna Mlodawska, Magdalena Makuch, Magdalena Malka, Czeslaw Cielecki, Pawel Nachulewicz
  Journal of Clinical Medicine.2021; 10(19): 4455.     CrossRef
• Can We Predict Differentiated Thyroid Cancer Behavior? Role of Genetic and Molecular Markers
  Rita Niciporuka, Jurijs Nazarovs, Arturs Ozolins, Zenons Narbuts, Edvins Miklasevics, Janis Gardovskis
  Medicina.2021; 57(10): 1131.     CrossRef
• Recent Improvements in Genomic and Transcriptomic Understanding of Anaplastic and Poorly Differentiated Thyroid Cancers
  Seong-Keun Yoo, Young Shin Song, Young Joo Park, Jeong-Sun Seo
  Endocrinology and Metabolism.2020; 35(1): 44.     CrossRef
• Genomic and Transcriptomic Characteristics According to Size of Papillary Thyroid Microcarcinoma
  Young Shin Song, Byung-Hee Kang, Seungbok Lee, Seong-Keun Yoo, Young Sik Choi, Jungsun Park, Dong Yoon Park, Kyu Eun Lee, Jeong-Sun Seo, Young Joo Park
  Cancers.2020; 12(5): 1345.     CrossRef
• Noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP): Diagnostic updates and molecular advances
  Ying-Hsia Chu, Peter M. Sadow
  Seminars in Diagnostic Pathology.2020; 37(5): 213.     CrossRef
• Current and Future Role of Tyrosine Kinases Inhibition in Thyroid Cancer: From Biology to Therapy
  María San Román Gil, Javier Pozas, Javier Molina-Cerrillo, Joaquín Gómez, Héctor Pian, Miguel Pozas, Alfredo Carrato, Enrique Grande, Teresa Alonso-Gordoa
  International Journal of Molecular Sciences.2020; 21(14): 4951.     CrossRef
• DNA FISH Diagnostic Assay on Cytological Samples of Thyroid Follicular Neoplasms
  Philippe Vielh, Zsofia Balogh, Voichita Suciu, Catherine Richon, Bastien Job, Guillaume Meurice, Alexander Valent, Ludovic Lacroix, Virginie Marty, Nelly Motte, Philippe Dessen, Bernard Caillou, Abir Ghuzlan, Jean-Michel Bidart, Vladimir Lazar, Paul Hofma
  Cancers.2020; 12(9): 2529.     CrossRef
• Mechanisms of TERT Reactivation and Its Interaction with BRAFV600E
  Young Shin Song, Young Joo Park
  Endocrinology and Metabolism.2020; 35(3): 515.     CrossRef
• Utility of a multigene testing for preoperative evaluation of indeterminate thyroid nodules: A prospective blinded single center study in China
  Yuntao Song, Guohui Xu, Tonghui Ma, Yanli Zhu, Hao Yu, Wenbin Yu, Wei Wei, Tianxiao Wang, Bin Zhang
  Cancer Medicine.2020; 9(22): 8397.     CrossRef
• Thyroid Cancer and Circadian Clock Disruption
  Roberta Malaguarnera, Caterina Ledda, Agnese Filippello, Francesco Frasca, Vincenzo Cristian Francavilla, Tiziana Ramaci, Maria Chiara Parisi, Venerando Rapisarda, Salvatore Piro
  Cancers.2020; 12(11): 3109.     CrossRef
• Molecular testing approaches in thyroid cancer diagnosis
  Abdul-Mohsen AlHejaily, Naji AlJohani
  Journal of Biochemical and Clinical Genetics.2020; : 77.     CrossRef