Endocrinology and Metabolism

Original Articles

Thyroid
Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis: Mijin Kim, Chae Hwa Kwon, Min Hee Jang, Jeong Mi Kim, Eun Heui Kim, Yun Kyung Jeon, Sang Soo Kim, Kyung-Un Choi, In Joo Kim, Meeyoung Park, Bo Hyun Kim; Endocrinol Metab. 2021;36(5):1086-1094. Published online October 28, 2021; DOI: https://doi.org/10.3803/EnM.2021.1132

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Background
Early identification of patients with high-risk papillary thyroid microcarcinoma (PTMC) that is likely to progress has become a critical challenge. We aimed to identify somatic mutations associated with lateral neck lymph node (LN) metastasis (N1b) in patients with PTMC.
Methods
Whole-exome sequencing (WES) of 14 PTMCs with no LN metastasis (N0) and 13 N1b PTMCs was performed using primary tumors and matched normal thyroid tissues.
Results
The mutational burden was comparable in N0 and N1b tumors, as the median number of mutations was 23 (range, 12 to 46) in N0 and 24 (range, 12 to 50) in N1b PTMC (P=0.918). The most frequent mutations were detected in PGS1, SLC4A8, DAAM2, and HELZ in N1b PTMCs alone, and the K158Q mutation in PGS1 (four patients, Fisher’s exact test P=0.041) was significantly enriched in N1b PTMCs. Based on pathway analysis, somatic mutations belonging to the receptor tyrosine kinase-RAS and NOTCH pathways were most frequently affected in N1b PTMCs. We identified four mutations that are predicted to be pathogenic in four genes based on Clinvar and Combined Annotation-Dependent Depletion score: BRAF, USH2A, CFTR, and PHIP. A missense mutation in CFTR and a nonsense mutation in PHIP were detected in N1b PTMCs only, although in one case each. BRAF mutation was detected in both N0 and N1b PTMCs.
Conclusion
This first comprehensive WES analysis of the mutational landscape of N0 and N1b PTMCs identified pathogenic genes that affect biological functions associated with the aggressive phenotype of PTMC.

Citations

Citations to this article as recorded by

What can we learn about acid-base transporters in cancer from studying somatic mutations in their genes?
Bobby White, Pawel Swietach
Pflügers Archiv - European Journal of Physiology.2024; 476(4): 673. CrossRef
Comprehensive Long-Read Sequencing Analysis Discloses the Transcriptome Features of Papillary Thyroid Microcarcinoma
Yanqiang Wang, Binbin Zou, Yanyan Zhang, Jin Zhang, Shujing Li, Bo Yu, Zhekun An, Lei Li, Siqian Cui, Yutong Zhang, Jiali Yao, Xiuzhi Shi, Jing Liu
The Journal of Clinical Endocrinology & Metabolism.2024; 109(5): 1263. CrossRef
Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations
Liyuan Ma, Luying Gao, Ya Hu, Xiaoyi Li, Chunhao Liu, Jiang Ji, Xinlong Shi, Aonan Pan, Yuang An, Nengwen Luo, Yu Xia, Yuxin Jiang
Clinical Genetics.2024; 105(5): 567. CrossRef
Multi-omics analysis reveals a molecular landscape of the early recurrence and early metastasis in pan-cancer
Dan-ni He, Na Wang, Xiao-Ling Wen, Xu-Hua Li, Yu Guo, Shu-heng Fu, Fei-fan Xiong, Zhe-yu Wu, Xu Zhu, Xiao-ling Gao, Zhen-zhen Wang, Hong-jiu Wang
Frontiers in Genetics.2023;[Epub] CrossRef

Clinical Study
Association between Serum Free Thyroxine and Anemia in Euthyroid Adults: A Nationwide Study: Mijin Kim, Bo Hyun Kim, Hyungi Lee, Min Hee Jang, Jeong Mi Kim, Eun Heui Kim, Yun Kyung Jeon, Sang Soo Kim, In Joo Kim; Endocrinol Metab. 2020;35(1):106-114. Published online March 19, 2020; DOI: https://doi.org/10.3803/EnM.2020.35.1.106

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Background

Studies on the relationship between thyroid function and anemia in the euthyroid range are scarce. We aimed to evaluate the association between anemia and serum free thyroxine (fT4) and thyrotropin (TSH) in euthyroid adults.

Methods

Data on 5,352 participants aged ≥19 years were obtained from the Korea National Health and Nutrition Examination Survey VI (2013 to 2015). Anemia was defined as hemoglobin (Hb) <13 and <12 g/dL for men and women, respectively.

Results

Overall, 6.1% of participants had anemia, and more women (9.9%) had anemia than men (2.8%, P<0.001). In multivariate analysis, serum fT4 levels, but not TSH, were positively associated with serum Hb levels in both sexes (P<0.001, each). Serum Hb levels linearly reduced across decreasing serum fT4 quartile groups in both sexes (P<0.001, each). After adjusting for potential confounding factors, participants with low-normal fT4 had 4.4 (P=0.003) and 2.8 times (P<0.001) higher risk for anemia than those with high-normal fT4 among men and women, respectively. When participants were divided into two groups at 50 years of age, in younger participants, men and women with the first quartile were at higher risk of anemia than men with the second quartile (odds ratio [OR], 3.3; P=0.029) and women with the forth quartile (OR, 3.2; P<0.001), respectively. This association was not observed in older participants.

Conclusion

These results suggest that a low-normal level of serum fT4 was associated with a lower serum Hb level and a higher risk of anemia in euthyroid adults, especially in younger participants.

Citations

Citations to this article as recorded by

Thyroid Function and Risk of Anemia: A Multivariable-Adjusted and Mendelian Randomization Analysis in the UK Biobank
Nicolien A van Vliet, Annelies E P Kamphuis, Wendy P J den Elzen, Gerard J Blauw, Jacobijn Gussekloo, Raymond Noordam, Diana van Heemst
The Journal of Clinical Endocrinology & Metabolism.2022; 107(2): e643. CrossRef
Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study
Alisa D Kjaergaard, Alexander Teumer, Eirini Marouli, Panos Deloukas, Aleksander Kuś, Rosalie Sterenborg, Bjørn O Åsvold, Marco Medici, Christina Ellervik
Human Molecular Genetics.2022; 31(15): 2548. CrossRef
Changes of hematological indices in patients with diffuse toxic goiter
F. H. Saidova, L. M. Ahmedova, Zh. B. Aslanova, N. A. Najafov
Klinicheskaia khirurgiia.2021; 88(3-4): 76. CrossRef
Association between Serum Free Thyroxine and Anemia in Euthyroid Adults: A Nationwide Study (Endocrinol Metab 2020;35:106-14, Mijin Kim et al.)
Zheng Feei Ma
Endocrinology and Metabolism.2020; 35(2): 484. CrossRef
Association between Serum Free Thyroxine and Anemia in Euthyroid Adults: A Nationwide Study (Endocrinol Metab 2020;35:106-14, Mijin Kim et al.)
Mijin Kim, Bo Hyun Kim
Endocrinology and Metabolism.2020; 35(3): 669. CrossRef

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