Endocrinology and Metabolism

Original Articles

Thyroid
Small Multi-Gene DNA Panel Can Aid in Reducing the Surgical Resection Rate and Predicting the Malignancy Risk of Thyroid Nodules: Moon Young Oh, Hye-Mi Choi, Jinsun Jang, Heejun Son, Seung Shin Park, Minchul Song, Yoo Hyung Kim, Sun Wook Cho, Young Jun Chai, Woosung Chung, Young Joo Park; Endocrinol Metab. 2024;39(5):777-792. Published online October 14, 2024; DOI: https://doi.org/10.3803/EnM.2024.2034

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Background
We explored the utility of a small multi-gene DNA panel for assessing molecular profiles of thyroid nodules and influencing clinical decisions by comparing outcomes between tested and untested nodules.
Methods
Between April 2022 and May 2023, we prospectively performed fine-needle aspiration (FNA) with gene testing via DNA panel of 11 genes (BRAF, RAS [NRAS, HRAS, KRAS], EZH1, DICER1, EIF1AX, PTEN, TP53, PIK3CA, TERT promoter) in 278 consecutive nodules (panel group). Propensity score-matching (1:1) was performed with 475 nodules that consecutively underwent FNA without gene testing between January 2021 and December 2021 (control group).
Results
In the panel group, positive call rate for mutations was 41.7% (BRAF 16.2%, RAS 12.6%, others 11.5%, double mutation 1.4%) for all nodules, and 40.0% (BRAF 4.3%, RAS 19.1%, others 15.7%, double mutation 0.9%) for indeterminate nodules. Benign call rate was 69.8% for all nodules, and 75.7% for indeterminate nodules. In four nodules, additional TP53 (in addition to BRAF or EZH1) or PIK3CA (in addition to BRAF or TERT) mutations were co-detected. Sensitivity, specificity, positive predictive value, and negative predictive value were 80.0%, 53.3%, 88.1%, 38.1% for all nodules, and 78.6%, 45.5%, 64.7%, 62.5% for indeterminate nodules, respectively. Panel group exhibited lower surgical resection rates than the control group for all nodules (27.0% vs. 52.5%, P<0.001), and indeterminate nodules (23.5% vs. 68.2%, P<0.001). Malignancy risk was significantly different between the panel and control groups (81.5% vs. 63.9%, P=0.008) for all nodules.
Conclusion
Our panel aids in managing thyroid nodules by providing information on malignancy risk based on mutations, potentially reducing unnecessary surgery in benign nodules or patients with less aggressive malignancies.

Citations

Citations to this article as recorded by

Integrative multi-omics refines the molecular subtypes of thyroid cancers and enhances cancer-progression prediction: a retrospective cohort study
Yoo Hyung Kim, Joseph Wang, Jae-Kyung Won, Youngsoo Kim, Sun Wook Cho, Dohyun Han, Young Joo Park
International Journal of Surgery.2026; 112(5): 11987. CrossRef
Impact of Molecular Testing on Surgical Decision-Making in Indeterminate Thyroid Nodules: A Global Meta-Analysis Across Test Generations
Truong Phan-Xuan Nguyen, Andrey Bychkov, Chan Kwon Jung, Kennichi Kakudo, Chanchal Rana
Endocrine Pathology.2026;[Epub] CrossRef
EIF1AX Mutations in thyroid nodules and advanced thyroid carcinoma: a systematic review and meta-analysis
Vincenzo Fiorentino, Patrizia Straccia, Esther Diana Rossi
Virchows Archiv.2026;[Epub] CrossRef
Great Debate: Molecular Testing and Extent of Surgery in Well-Differentiated Thyroid Cancer
Cord Sturgeon, Ashok R. Shaha, Linwah Yip
Annals of Surgical Oncology.2025; 32(7): 4597. CrossRef
Prediction of malignancy risk in Bethesda III nodules: development and validation of multiple machine learning models
Wentian Li, Jiayu Zhu, Ying Wang, Jingxiu Li, Zhonghui Li, Cuicui Wang, Jingli Xue, Peng Zhou, Qingqing He
Frontiers in Endocrinology.2025;[Epub] CrossRef
Inside the Matrix: Integrated Cytology and Molecular Testing of Thyroid FNAC Samples Using a Commercial Synthetic 3D Scaffold
Diana Raluca Streinu, Dana Liana Stoian, Octavian Constantin Neagoe, Mihnea Derban, Paula Diana Ciordas, Catalin Marian
International Journal of Molecular Sciences.2025; 26(22): 11100. CrossRef

Miscellaneous
Differences in Type 2 Fiber Composition in the Vastus Lateralis and Gluteus Maximus of Patients with Hip Fractures: Jingwen Tian, Minchul Song, Kyu Jeong Cho, Ho Yeop Lee, Sang Hyeon Ju, Jung Ryul Lim, Ha Thi Nga, Thi Linh Nguyen, Ji Sun Moon, Hyo Ju Jang, Jung-Mo Hwang, Hyon-Seung Yi; Endocrinol Metab. 2024;39(3):521-530. Published online June 11, 2024; DOI: https://doi.org/10.3803/EnM.2024.1935

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Background
Aging leads to sarcopenia, which is characterized by reduced muscle mass and strength. Many factors, including altered muscle protein turnover, diminished neuromuscular function, hormonal changes, systemic inflammation, and the structure and composition of muscle fibers, play a crucial role in age-related muscle decline. This study explored differences in muscle fiber types contributing to overall muscle function decline in aging, focusing on individuals with hip fractures from falls.
Methods
A pilot study at Chungnam National University Hospital collected muscle biopsies from hip fracture patients aged 20 to 80 undergoing surgical treatment. Muscle biopsies from the vastus lateralis and gluteus maximus were obtained during hip arthroplasty or internal fixation. Handgrip strength, calf and thigh circumference, and bone mineral density were evaluated in individuals with hip fractures from falls. We analyzed the relationships between each clinical characteristic and muscle fiber type.
Results
In total, 26 participants (mean age 67.9 years, 69.2% male) were included in this study. The prevalence of sarcopenia was 53.8%, and that of femoral and lumbar osteoporosis was 19.2% and 11.5%, respectively. Vastus lateralis analysis revealed an age-related decrease in type IIx fibers, a higher proportion of type IIa fibers in women, and an association between handgrip strength and type IIx fibers in men. The gluteus maximus showed no significant correlations with clinical parameters.
Conclusion
This study identified complex associations between age, sex, handgrip strength, and muscle fiber composition in hip fracture patients, offering insights crucial for targeted interventions combating age-related muscle decline and improving musculoskeletal health.

Citations

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Scientific Reports.2026;[Epub] CrossRef
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Arthroscopy, Sports Medicine, and Rehabilitation.2025;[Epub] CrossRef
Volume and quality of the gluteal muscles are associated with early physical function after total hip arthroplasty
Makoto Iwasa, Keisuke Uemura, Mazen Soufi, Yoshito Otake, Tomofumi Kinoshita, Tatsuhiko Kutsuna, Kazuma Takashima, Hidetoshi Hamada, Yoshinobu Sato, Nobuhiko Sugano, Seiji Okada, Masaki Takao
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Review Article

Thyroid
Metabolic Reprogramming in Thyroid Cancer: Sang-Hyeon Ju, Minchul Song, Joung Youl Lim, Yea Eun Kang, Hyon-Seung Yi, Minho Shong; Endocrinol Metab. 2024;39(3):425-444. Published online June 10, 2024; DOI: https://doi.org/10.3803/EnM.2023.1802

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Thyroid cancer is a common endocrine malignancy with increasing incidence globally. Although most cases can be treated effectively, some cases are more aggressive and have a higher risk of mortality. Inhibiting RET and BRAF kinases has emerged as a potential therapeutic strategy for the treatment of thyroid cancer, particularly in cases of advanced or aggressive disease. However, the development of resistance mechanisms may limit the efficacy of these kinase inhibitors. Therefore, developing precise strategies to target thyroid cancer cell metabolism and overcome resistance is a critical area of research for advancing thyroid cancer treatment. In the field of cancer therapeutics, researchers have explored combinatorial strategies involving dual metabolic inhibition and metabolic inhibitors in combination with targeted therapy, chemotherapy, and immunotherapy to overcome the challenge of metabolic plasticity. This review highlights the need for new therapeutic approaches for thyroid cancer and discusses promising metabolic inhibitors targeting thyroid cancer. It also discusses the challenges posed by metabolic plasticity in the development of effective strategies for targeting cancer cell metabolism and explores the potential advantages of combined metabolic targeting.

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