Review
Cell Biology
Ruozhu Yang, Yi Han, Xinyu Guan, Yue Hong, Jiahao Meng, Shirong Ding, Qian Long, Wenjun Yi
Summary: TERT is an essential enzyme responsible for telomere maintenance and genome stability. In breast cancer, the overactivation of hTERT plays a critical role in tumor initiation and progression. Understanding the mechanisms of hTERT activation in cancer could lead to improved understanding of the disease and the development of more effective treatment strategies.
CELL COMMUNICATION AND SIGNALING
(2023)
Review
Biochemistry & Molecular Biology
Tsung-Jang Yeh, Chi-Wen Luo, Jeng-Shiun Du, Chien-Tzu Huang, Min-Hung Wang, Tzer-Ming Chuang, Yuh-Ching Gau, Shih-Feng Cho, Yi-Chang Liu, Hui-Hua Hsiao, Li-Tzong Chen, Mei-Ren Pan, Hui-Ching Wang, Sin-Hua Moi
Summary: Head and neck cancers (HNCs) are a major global malignancy. Telomerase reactivation through TERT promoter mutations has been linked to carcinogenesis. These mutations have high frequencies in HNCs and are associated with poor survival. Therapies targeting telomerase have been developed, but few have reached clinical trials. This review summarizes the current understanding and evidence of TERT promoter mutations in HNC patients.
Article
Oncology
Theodore Vougiouklakis, Kelsey Zhu, Varshini Vasudevaraja, Jonathan Serrano, Guomiao Shen, Rebecca L. Linn, Xiaojun Feng, Sarah Chiang, Julieta E. Barroeta, Kristen M. Thomas, Lauren E. Schwartz, Pratibha S. Shukla, Anais Malpica, Esther Oliva, Paolo Cotzia, Deborah F. DeLair, Matija Snuderl, George Jour
Summary: This study is the largest comprehensive molecular study of juvenile granulosa cell tumors, revealing putative oncogenic drivers and TERT rearrangements, offering insights into possible targeted therapies for this rare entity.
CLINICAL CANCER RESEARCH
(2022)
Article
Endocrinology & Metabolism
Michiko Matsuse, Norisato Mitsutake
Summary: TERT promoter mutations have been identified as crucial factors in tumor progression, as they upregulate TERT transcription and contribute to the unlimited proliferative capacity of tumor cells. In differentiated thyroid carcinoma, these mutations are associated with high-risk clinicopathological aggressiveness and worse prognosis, making them the best molecular marker for predicting tumor aggressiveness to date. This review provides a summary of recent findings regarding TERT promoter mutations and their functional/mechanistic aspects.
Article
Biology
Hueng-Chuen Fan, Fung-Wei Chang, Jeng-Dau Tsai, Kao-Min Lin, Chuan-Mu Chen, Shinn-Zong Lin, Ching-Ann Liu, Horng-Jyh Harn
Summary: Telomeres cap the ends of eukaryotic chromosomes and are essential for genome protection and replication. The maintenance of telomere length is regulated by various factors and dysfunctions in telomere maintenance and telomerase activation are associated with diseases, particularly cancer. Understanding the molecular mechanisms behind telomere length regulation and protection is crucial for future therapeutic opportunities.
Article
Medicine, General & Internal
Marta Mellai, Omar Porrini Prandini, Aurora Mustaccia, Valentina Fogazzi, Marta Allesina, Marco Krengli, Renzo Boldorini
Summary: pTERT mutations were significantly associated with histologic grade and prognosis in malignant meningiomas, supporting their use in prognostic classification. The mutation rate was higher in anaplastic meningiomas compared to atypical tumors, indicating their potential as adverse prognostic factors.
Article
Multidisciplinary Sciences
Gavin R. Oliver, Sofia Marcano-Bonilla, Jonathan Quist, Ezequiel J. Tolosa, Eriko Iguchi, Amy A. Swanson, Nicole L. Hoppman, Tanya Schwab, Ashley Sigafoos, Naresh Prodduturi, Jesse S. Voss, Shannon M. Knight, Jin Zhang, Numrah Fadra, Raul Urrutia, Michael Zimmerman, Jan B. Egan, Anthony G. Bilyeu, Jin Jen, Ema Veras, Rema'a Al-Safi, Matthew Block, Sarah Kerr, Martin E. Fernandez-Zapico, John K. Schoolmeester, Eric W. Klee
Summary: Gestational trophoblastic disease (GTD) is a group of lesions derived from placental tissue. Epithelioid trophoblastic tumor (ETT) is the rarest form of GTD and its molecular characterization is lacking. This study identified LPCAT1-TERT fusion transcripts in ETTs, which can positively modulate cell proliferation, potentially serving as future treatment targets. TERT upregulation, even in the absence of fusions, and its association with copy number gains of chromosome 5, appear to be characteristic of ETTs and may serve as novel markers for improving diagnosis and treatment outcomes.
Review
Oncology
Liu Yang, Na Li, Meng Wang, Yan-Hua Zhang, Lu-Da Yan, Wen Zhou, Zhi-Qiong Yu, Xiao-Chun Peng, Jun Cai
Summary: Non-small cell lung cancer (NSCLC) accounts for a majority of lung cancer cases and is commonly diagnosed at an advanced stage with low survival rates. Activation of telomerase, particularly through telomerase reverse transcriptase (TERT), is associated with the malignant characteristics and prognosis of NSCLC, offering potential therapeutic applications for the treatment of this disease.
Review
Oncology
Sara Gandini, Ines Zanna, Simone De Angelis, Domenico Palli, Sara Raimondi, Simone Ribero, Giovanna Masala, Mariano Suppa, Federica Bellerba, Federica Corso, Luigi Nezi, Eduardo Nagore, Saverio Caini
Summary: Somatic mutations of the TERT gene promoter are associated with worse overall survival in melanoma patients, especially in non-acral cutaneous melanomas. Limited evidence suggests a detrimental effect of TERT mutations on various survival measures.
CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
(2021)
Review
Oncology
Sivaramakrishna Rachakonda, Jorg D. Hoheisel, Rajiv Kumar
Summary: Telomere shortening acts as a tumor suppressor by restricting replicative potential, while cancer cells evade this limitation through telomerase reactivation. Mutations in the TERT promoter increase TERT transcription, delaying senescence but not preventing telomere shortening. The scarcity of functional mutations outside coding sequences suggests evolutionary constraints on human genomes.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Endocrinology & Metabolism
Yanxiu Li, Iokfai Cheang, Zhongwen Zhang, Wenming Yao, Yanli Zhou, Haifeng Zhang, Yun Liu, Xiangrong Zuo, Xinli Li, Quan Cao
Summary: This study found that SNPs of TERC and TERT genes are associated with the prognosis of AHF, with mutant alleles being related to long-term mortality. Significant differences were observed in specific haplotypes, with CCAC being a risk factor and GTGT being a protective factor.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Francois Hafezi, Lisa Jaxel, Morgane Lemaire, Jonathan D. Turner, Danielle Perez-Bercoff
Summary: TERT promoter mutations, especially the -124C>T mutation, play a crucial role in the reactivation of telomerase reverse transcriptase. The mutations generally lead to increased TERT transcription levels, with the double mutation showing the highest impact. Additionally, the presence of these mutations may unleash antisense transcription and lncRNA TAPAS might help balance the effects of TERT promoter mutations.
Article
Oncology
Julie Delyon, Anais Vallet, Melanie Bernard-Cacciarella, Isabelle Kuzniak, Coralie Reger de Moura, Baptiste Louveau, Fanelie Jouenne, Samia Mourah, Celeste Lebbe, Nicolas Dumaz
Summary: TERT promoter mutations are frequently found in melanoma and are associated with a poorer prognosis. Our data suggest that TERT mRNA level is a reliable marker for prognosis and is associated with resistance to targeted therapy in melanoma. We showed that TERT overexpression drives resistance to BRAF and MEK inhibitors, and inhibition of TERT can be a therapeutic option for melanoma with acquired resistance to BRAF inhibition.
Article
Oncology
Jun Park, Sungjoo Lee, Jiyun Park, Hyunju Park, Chang-Seok Ki, Young-Lyun Oh, Jung-Hee Shin, Jee-Soo Kim, Sun-Wook Kim, Jae-Hoon Chung, Kyunga Kim, Tae-Hyuk Kim
Summary: This study introduced a new prognostic system TNM-8T that combines genetic mutation status with staging, showing superior predictability compared to the traditional TNM-8 system, with a high accuracy in predicting long-term survival outcomes for patients with differentiated thyroid cancer.
Article
Endocrinology & Metabolism
Vitor Rodrigues da Costa, Larissa Valdemarin Bim, Luiza Dornelles Penteado e Silva, Gabriel Avelar Colloza-Gama, Andre Uchimura Bastos, Rosana Delcelo, Gisele Oler, Janete Maria Cerutti
Summary: This study compared three different strategies to detect TERT promoter mutations in PTC, finding good concordance among the methodologies when a high percentage of mutated alleles was present. Sanger sequencing showed a limitation in detection of mutated alleles, indicating that the prevalence of TERT promoter mutations in PTC may be higher than previously reported.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Genetics & Heredity
Jung Hee Kim, Man Jin Kim, Sung Hye Kong, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong
Summary: This study investigated the characteristics of germline mutations in a large group of Korean patients with PPGL. The results showed that approximately 21% of sporadic PPGLs harbored germline mutations, which were associated with younger age at diagnosis and the presence of bilateral and multifocal tumors. The study also identified a specific missense mutation in Asian patients that was associated with unilateral pheochromocytoma with dominant epinephrine production.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Gastroenterology & Hepatology
Doo-Ho Lee, Woongchang Yoon, Areum Lee, Youngmin Han, Yoonhyeong Byun, Jae Seung Kang, Hongbeom Kim, Wooil Kwon, Young-Ah Suh, Yonghwan Choi, Junghyun Namkung, Sangjo Han, Sung Gon Yi, Jin Seok Heo, In Woong Han, Joon Oh Park, Joo Kyung Park, Song Cheol Kim, Eunsung Jun, Chang Moo Kang, Woo Jin Lee, Hyeon Kook Lee, Huisong Lee, Seungyeoun Lee, Seung-Yong Jeong, Kyu Eun Lee, Wonshik Han, Taesung Park, Jin-Young Jang
Summary: This study developed a prediction model using a multi-marker panel as a diagnostic screening tool for pancreatic ductal adenocarcinoma and demonstrated its significant diagnostic performance in distinguishing pancreatic ductal adenocarcinoma from normal and benign pancreatic disease states, as well as patients with other cancers.
JOURNAL OF HEPATO-BILIARY-PANCREATIC SCIENCES
(2023)
Article
Endocrinology & Metabolism
Marcia S. Brose, Yury Panaseykin, Bhavana Konda, Christelle de la Fouchardiere, Brett G. M. Hughes, Andrew G. Gianoukakis, Young Joo Park, Ilia Romanov, Monika K. Krzyzanowska, Sophie Leboulleux, Terri A. Binder, Corina Dutcus, Ran Xie, Matthew H. Taylor
Summary: This study compared the efficacy and toxicity of lenvatinib starting at doses of 24 mg/day and 18 mg/day in patients with RR-DTC. The results showed that the objective response rate was 57.3% in the 24 mg/day arm and 40.3% in the 18 mg/day arm, indicating that the starting dose of 18 mg/day did not demonstrate noninferiority. However, there was no clinically relevant difference in the safety profile between the two arms.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Inha Jung, Hyemi Kwon, Se Eun Park, Kyung-Do Han, Yong-Gyu Park, Eun-Jung Rhee, Won-Young Lee
Summary: Among individuals with newly diagnosed T2DM, the risk of heart failure was reduced in those with higher levels of physical activity after diagnosis. Our results suggest that either increasing or maintaining the frequency of physical activity after the diagnosis of T2DM may lower the risk of heart failure.
DIABETES & METABOLISM JOURNAL
(2022)
Article
Endocrinology & Metabolism
Hyejo Ryu, Hong-Gyun Wu, Kyu Eun Lee, Eun-Jae Chung, Soon-Hyun Ahn, Young Joo Park, Hoon Sung Choi
Summary: In this retrospective study, the efficacy and safety of postoperative radiotherapy (PORT) for differentiated thyroid cancer (DTC) with high risk features were evaluated. Results showed that PORT can reduce locoregional recurrence in DTC patients without severe toxicity. Further studies are needed to identify the patients who can benefit from PORT.
CLINICAL ENDOCRINOLOGY
(2023)
Article
Otorhinolaryngology
Ja Kyung Lee, Jee-Hye Choi, Woochul Kim, Hyeong Won Yu, Su-jin Kim, Young Jun Chai, June Young Choi, Jae Hyun Kim, Kyu Eun Lee
Summary: A case of a 5-year-old patient undergoing BABA robotic thyroidectomy for Graves' disease is presented, showing the similarities and differences compared to adult patients. The surgery was performed similarly to adults without the need for additional working space. The patient had a smooth recovery with minimal scarring.
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK
(2023)
Letter
Endocrinology & Metabolism
Jee-Hye Choi, Ja Kyung Lee, Woochul Kim, Hyeong Won Yu, Su-jin Kim, Young Jun Chai, June Young Choi, Kyu Eun Lee
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Surgery
JungHak Kwak, Hyeong Won Yu, Jong-Hyuk Ahn, Su-Jin Kim, Young Jun Chai, June Young Choi, Kyu Eun Lee
Summary: This study examined the trends in surgical outcomes for patients who underwent bilateral axillo-breast approach robotic thyroidectomy (BABA RT) over the past 14 years. The study found that with advancements in robotic surgical systems and improvements in the BABA RT technique, surgical indications have expanded to include more advanced thyroid diseases, and surgical outcomes have improved over the last 14 years.
WORLD JOURNAL OF SURGERY
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Hyobin Seo, Kwang Nam Jin, Ji Sang Park, Koung Mi Kang, Eun Kyung Lee, Ji Ye Lee, Roh-Eul Yoo, Young Joo Park, Ji-hoon Kim
Summary: This study evaluated the risk of thyroid cancer in a lung cancer screening population based on the presence of incidental thyroid nodules detected on low-dose chest computed tomography (LDCT). The results showed that the incidence of thyroid cancer was higher in the ITN-positive group compared to the ITN-negative group, but all cancers were papillary thyroid microcarcinomas (PTMCs). Therefore, thorough screening for thyroid incidentalomas may not be necessary in patients with a heavy smoking history.
Article
Endocrinology & Metabolism
Hyemi Kwon, Kyung-Do Han, Bong-Sung Kim, Sun Joon Moon, Se Eun Park, Eun-Jung Rhee, Won-Young Lee
Summary: In this national cohort study, there was a significantly higher risk of clinical vertebral and hip fractures in patients with acromegaly compared to the controls. The increased fracture risk was time-dependent and observed during the early period of follow-up.
OSTEOPOROSIS INTERNATIONAL
(2023)
Article
Endocrinology & Metabolism
Shinje Moon, Eun Kyung Lee, Hoonsung Choi, Sue K. Park, Young Joo Park
Summary: This study investigates the impact of ultra-sound screening on thyroid cancer outcomes. The findings suggest that early detection of thyroid cancer leads to better survival outcomes compared to symptomatic thyroid cancer.
ENDOCRINOLOGY AND METABOLISM
(2023)
Article
Endocrinology & Metabolism
Hyemi Kwon, Kyung-Do Han, Sun Joon Moon, Se Eun Park, Eun-Jung Rhee, Won-Young Lee
Summary: This study investigated the association between NAFLD and thyroid cancer risk in young adults, and found that NAFLD was associated with an increased risk of thyroid cancer.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Pathology
Jiwon Koh, Ha Young Park, Jeong Mo Bae, Jun Kang, Uiju Cho, Seung Eun Lee, Haeyoun Kang, Min Eui Hong, Jae Kyung Won, Youn-La Choi, Wan-Seop Kim, Ahwon Lee
Summary: The importance of molecular pathology tests has increased in the past decade, leading to a demand for efficient training in this field. The Korean Society of Pathologists established a task force to develop a refined educational curriculum in molecular pathology. An online educational session was conducted, and the understanding of the participants significantly increased in various learning objectives, particularly in the field of next-generation sequencing. The feedback received on the refined curriculum was predominantly positive.
JOURNAL OF PATHOLOGY AND TRANSLATIONAL MEDICINE
(2023)
Article
Medical Informatics
Inhwa Yoo, Hyoun-Joong Kong, HyunJin Joo, Yeonjin Choi, Suk Wha Kim, Kyu Eun Lee, Jeeyoung Hong
Summary: This study aimed to compare the user experience differences of elderly women participating in remote sports exercise programs using tablet and augmented reality (AR) glasses. The results showed no significant differences in attractiveness, stimulation, and novelty between the two groups, but there were significant differences in efficiency, perspicuity, and dependability. Therefore, when developing AR glasses-based exercise programs for the elderly, the efficiency, clarity, and stability of the program should be considered to meet participants' needs.
HEALTHCARE INFORMATICS RESEARCH
(2023)
Article
Endocrinology & Metabolism
Ja Kyung Lee, Jee-Hye Choi, Woochul Kim, JungHak Kwak, Hyeong Won Yu, Su-jin Kim, Young Jun Chai, June Young Choi, Kyu Eun Lee
Summary: This study retrospectively evaluated the clinical characteristics and surgical outcomes of 26 pediatric patients aged 5-18 years who underwent BABA robotic thyroidectomy. The operation time and surgical completeness were similar to robotic thyroidectomy in adults, and most complications were minor and transient. Therefore, robotic thyroidectomy can be considered as a surgical option regardless of patient age or diagnosis.