Endocrine journal最新文献

{"title":"Brown fat thermogenesis and branched-chain amino acids in metabolic disease.","authors":"Zachary Brown, Takeshi Yoneshiro","doi":"10.1507/endocrj.EJ23-0205","DOIUrl":"10.1507/endocrj.EJ23-0205","url":null,"abstract":"<p><p>Since the 1960s, researchers have recognized an association between elevated plasma branched chain amino acids (BCAA) and metabolic disease, including type 2 diabetes mellitus and obesity, but the cause for it remained poorly understood. Recent advances in metabolomics, advanced imaging techniques, and genetic analyses over the past decade have enabled newfound insights into the mechanism of BCAA metabolic dysregulation across a variety of peripheral tissues and its impact on metabolic disease, suggesting a key role for brown adipose tissue (BAT) in determining BCAA metabolic homeostasis. Previous investigations into BAT have emphasized fatty acids and glucose as substrates for BAT thermogenesis. Here, we address the importance of BAT in systemic BCAA metabolism, driven via the newly identified mitochondrial BCAA carrier (MBC), as well as the impact of BAT-driven BCAA clearance on glucose homeostasis and metabolic disease. The newly identified MBC offers new therapeutic avenues by which BAT activity may be enhanced to improve metabolic and cardiovascular health, as well as other diseases in which increases of circulating BCAA may play a role in pathogenicity.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71520834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression of SMADs in orthotopic human endometrium, ovarian endometriosis, and endometriotic lesions in a murine model","authors":"Yuri Kadota, Takeshi Kato, Kana Kasai, Takako Kawakita, Misaki Murayama, Akari Shinya, Hikari Sasada, Sachiko Katayama, Mari Nii, Shota Yamamoto, Hiroki Noguchi, Kou Tamura, Hidenori Aoki, Miyu Taniguchi, Tomotaka Nakagawa, Takashi Kaji, Masato Nishimura, Riyo Kinouchi, Kanako Yoshida, Takeshi Iwasa","doi":"10.1507/endocrj.ej23-0486","DOIUrl":"https://doi.org/10.1507/endocrj.ej23-0486","url":null,"abstract":"</p><p>Activin A promotes the development of endometriotic lesions in a murine model of endometriosis, and the immunohistochemical localization of phosphorylated suppressor of mothers against decapentaplegic homolog 2/3 (pSMAD2/3) complex in endometriotic lesions has been reported. Activin may therefore be involved in the development and proliferation of endometriotic cells <i>via</i> the SMAD signaling pathway. However, few detailed reports exist on SMAD7 expression in endometriosis. The purpose of this study was to investigate the expression of pSMAD2/3 or pSMAD3 and SMAD7 in the orthotopic human endometrium, ovarian endometriosis, and endometriotic lesions in a murine model and the effect of activin A on pSMAD2/3 and SMAD7 expression. We established an endometriosis murine model <i>via</i> the intraperitoneal administration of endometrial tissue and blood from donor mice. Activin A was intraperitoneally administered to the activin group. We immunohistochemically evaluated orthotopic endometria, ovarian endometriotic tissues, and endometriotic lesions in the murine model followed by western blotting. We found that pSMAD3 and SMAD7 were expressed in ovarian endometriosis and orthotopic endometria from patients with and without endometriosis. In the murine model, endometriotic lesions expressed pSMAD2/3 and SMAD7 in the activin and control groups, and higher SMAD7 expression was found in the activin group. To the best of our knowledge, this study is the first to show that SMAD7 expression is upregulated in endometriosis. In conclusion, these results suggest that activin A activates the SMAD signaling pathway and promotes the development of endometriotic lesions, thus identifying SMAD7 as a potential therapeutic target for endometriosis.</p>\u0000<p></p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139980454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Positive association between the proinsulin-to-C-peptide ratio and prolonged hyperglycemic time in type 2 diabetes","authors":"Aika Miya, Akinobu Nakamura, Hiroshi Nomoto, Hiraku Kameda, Tatsuya Atsumi","doi":"10.1507/endocrj.ej23-0525","DOIUrl":"https://doi.org/10.1507/endocrj.ej23-0525","url":null,"abstract":"</p><p>The proinsulin-to-C-peptide (PI:C) ratio is an index applied during the early stage of pancreatic β-cell dysfunction. The aim of this study was to identify the characteristics associated with the PI:C ratio to discuss pancreatic β-cell dysfunction progression during the natural course of type 2 diabetes and its relationship with glycemic management. This multicenter, prospective observational study included 272 outpatients with type 2 diabetes. Continuous glucose monitoring was performed and fasting blood samples were collected and analyzed. We identified the clinical factors associated with the PI:C ratio by multiple regression analysis. The mean age of the cohort was 68.0 years, mean hemoglobin A1c 7.1% (54 mmol/mol), and mean body mass index 24.9 kg/m². Multiple regression analysis showed that a prolonged time above the target glucose range (&gt;180 mg/dL) and high body mass index contributed to a high PI:C ratio. However, no associations were found between the PI:C ratio and glucose variability indices. These findings suggested that the PI:C ratio is positively associated with a prolonged hyperglycemic time in type 2 diabetes, whereas its relationship with glucose variability remains unclear.</p>\u0000<p></p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139947344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of thyroid diffuse goiter and its association with body mass index and the presence of cysts and nodules in children and adolescents: the Fukushima Health Management Survey","authors":"Nana Nakahata, Mahiro Asano, Norikazu Abe, Haruka Ejiri, Hisashi Ota, Satoshi Suzuki, Ayako Sato, Rina Tazaki, Natsuki Nagamine, Chisato Takahashi, Yukie Yamaya, Manabu Iwadate, Takashi Matsuzuka, Tetsuya Ohira, Seiji Yasumura, Satoru Suzuki, Fumihiko Furuya, Hiroki Shimura, Shinichi Suzuki, Susumu Yokoya, Hitoshi Ohto, Kenji Kamiya","doi":"10.1507/endocrj.ej23-0609","DOIUrl":"https://doi.org/10.1507/endocrj.ej23-0609","url":null,"abstract":"</p><p>The main cause of diffuse thyroid goiter is autoimmune chronic thyroiditis, otherwise known as Hashimoto’s thyroiditis. Thyroid hormones play pivotal roles in growth and development during childhood. However, the prevalence of diffuse goiter and the relationships between diffuse goiter, thyroid volume, cysts and nodules, and anthropometric measurements in children are not well known. Among 789,459 participants who participated in thyroid ultrasound examinations, 320,206 participants (male: 161,728; female: 158,478) aged 1–23 years were analyzed. Logistic regression analyses were conducted to calculate the odds ratios of the standard deviation score of body mass index (BMI-SDS), the SDS of bilateral width multiplied thickness area (BWTAR-SDS) as a provisional determination of thyroid volume, and the presence of nodules or cysts for positive diffuse goiter compared with negative diffuse goiter after correction for sex and age. The prevalence of diffuse goiter increased in a female-dominant manner with aging. Compared with the absence of diffuse goiter, the age- and sex-adjusted odds ratios (95% confidence intervals) for BMI-SDS (1 SD), BWTAR-SDS (1 SD), cysts, and nodules were 1.24 (1.21–1.27), 3.21 (3.13–3.29), 0.53 (0.50–0.58), and 1.38 (1.17–1.64), respectively. The odds ratios of nodules for positive diffuse goiter were 4.18 (1.08–16.08), 1.76 (1.01–3.07), 1.80 (1.32–2.45), and 1.34 (1.08–1.67) in the age groups 1–7, 8–11, 12–15, and 16–23 years, respectively. The age-dependent increase in the prevalence of diffuse goiter was independently associated with increased BMI and positive prevalence of nodules in young individuals.</p>\u0000<p></p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139756478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The humanistic and societal impact of obesity in Japan: a targeted literature review","authors":"Wataru Ogawa, Palvi Gupta","doi":"10.1507/endocrj.ej23-0416","DOIUrl":"https://doi.org/10.1507/endocrj.ej23-0416","url":null,"abstract":"</p><p>Obesity is a focus of Japanese public health policy, due to Japanese individuals’ high susceptibility to weight-related conditions. In contrast to global definitions, obesity is defined as a body-mass-index (BMI) of ≥25 kg/m² in Japan. Despite public efforts, rates of obesity have not decreased over the past decade. To better understand its societal impact, we examined the economic, quality of life (QoL), and complications burden of obesity in Japan. Electronic databases were searched for English and Japanese-language publications from 2005 to December 2020 reporting on adults with obesity in Japan; other diseases were excluded, with no restriction on intervention. Outcomes of interest included costs or resource use, QoL, risk of complications, and other clinical outcomes. We identified 137 studies, including 19 reporting on economic evidence, eight reporting on QoL, and 115 reporting on the relationship between obesity and the risk of complications or mortality. The studies consistently showed that Japanese adults with obesity (BMI ≥25 kg/m²) are at increased risk of complications <i>vs.</i> normal weight adults. They also confirmed higher total and medical costs, resource use, and hospitalization costs among adults with obesity <i>vs.</i> normal weight adults. In addition, the studies confirmed a considerable impact of obesity on physical and mental aspects of QoL. Overall, this study found that obesity in Japan is associated with a substantial burden. Japanese people are at risk even with BMI ≥25–&lt;30 kg/m², which are generally considered as pre-obese in other countries.</p>\u0000<p></p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139661255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A machine learning approach for predicting treatment response of hyponatremia","authors":"Tamaki Kinoshita, Shintaro Oyama, Daisuke Hagiwara, Yoshinori Azuma, Hiroshi Arima","doi":"10.1507/endocrj.ej23-0561","DOIUrl":"https://doi.org/10.1507/endocrj.ej23-0561","url":null,"abstract":"</p><p>Hyponatremia leads to severe central nervous system disorders and requires immediate treatment in some cases. However, a rapid increase in serum sodium (s-Na) concentration could cause osmotic demyelination syndrome. To achieve a safety hyponatremia treatment, we develop a prediction model of s-Na concentration using a machine learning. Among the 341 and 47 patients admitted to two tertiary hospitals for hyponatremia treatment (s-Na &lt;130 mEq/L), those who were admitted to the general unit with urine sodium &lt;20 mEq/L or treated with desmopressin were excluded. Ultimately, 74 and 15 patients (342 and 146 6-hourly datasets) were included in the learning and validation data, respectively. We trained the prediction model using three regression algorithms for shallow machine learning to predict s-Na every 6 h during treatment with the data of patients with hyponatremia (median s-Na: 112.5 mEq/L; range: 110.0–116.8 mEq/L) from one hospital. The model was validated externally using the data of patients with hyponatremia (median s-Na: 117.0 mEq/L; range: 112.9–120.0 mEq/L) from another hospital. Using 5–7 predictors (water intake, sodium intake, potassium intake, urine volume, s-Na concentration, serum potassium concentration, serum chloride concentration), the support vector regression model showed the best performance overall (root mean square error = 0.05396; R² = 0.92), followed by the linear regression and regression tree models. The predicted s-Na levels, using explainable machine learning algorithms and clinically accessible parameters, correlated well with the actual levels. Thus, our model could be applied to the treatment of hyponatremia in clinical practice.</p>\u0000<p></p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139661376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of pathophysiology in subclinical hyperthyroidism with different etiologies","authors":"Hanna Deguchi-Horiuchi, Mitsuru Ito, Sawako Takahashi, Kazuyoshi Kousaka, Mako Hisakado, Shuji Fukata, Takumi Kudo, Eijun Nishihara, Mitsushige Nishikawa, Akira Miyauchi, Takashi Akamizu","doi":"10.1507/endocrj.ej23-0497","DOIUrl":"https://doi.org/10.1507/endocrj.ej23-0497","url":null,"abstract":"</p><p>Subclinical hyperthyroidism (SHyper) is defined as normal levels of free thyroxine (fT4) and free triiodothyronine (fT3) with suppressed levels of TSH. Previous studies have reported the individual pathophysiology of endogenous SHyper patients and athyreotic patients receiving TSH suppression therapy with levothyroxine; however, apparently no studies have compared the two conditions. Five-hundred-forty untreated endogenous SHyper patients and 1,024 patients receiving TSH suppression therapy who underwent total thyroidectomy for papillary thyroid carcinoma were sampled. Thyroid hormone profiles and peripheral indices related to thyrotoxicosis were investigated in endogenous SHyper patients, athyreotic patients receiving TSH suppression therapy, and healthy participants. Endogenous SHyper patients showed significantly higher thyroid hormone levels (fT4 [<i>p</i> &lt; 0.001] and fT3 [<i>p</i> &lt; 0.001]), and peripheral indices showed a significant tendency towards thyrotoxicosis (strong TSH suppression: alkaline phosphatase [ALP, <i>p</i> &lt; 0.001], creatinine [Cre, <i>p</i> &lt; 0.001], pulse rate [<i>p</i> &lt; 0.05]; and mild TSH suppression: Cre [<i>p</i> &lt; 0.05]) than healthy participants. In contrast, athyreotic patients receiving TSH suppression therapy showed a significant tendency towards thyrotoxicosis than healthy participants only when TSH was strongly suppressed (fT3 [<i>p</i> &lt; 0.001] and Cre [<i>p</i> &lt; 0.001]). Endogenous SHyper patients showed significantly higher fT3 levels (<i>p</i> &lt; 0.001) than athyreotic patients receiving TSH suppression therapy; however, there was a significant tendency towards thyrotoxicosis only when TSH was strongly suppressed (ALP [<i>p</i> &lt; 0.05] and pulse rate [<i>p</i> &lt; 0.05]). The effects of endogenous SHyper and TSH suppression therapy on target organ function are different. Although the serum thyroid hormone profile is similar to that of the thyrotoxic state, athyreotic patients receiving TSH suppression therapy with mildly suppressed serum TSH levels are not thyrotoxic.</p>\u0000<p></p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139589106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical impact of proteinuria on renal function and treatment outcomes in patients with radioiodine-refractory thyroid cancer treated with lenvatinib","authors":"Naoki Fukuda, Kazuhisa Toda, Hirotaka Suto, Ryosuke Oki, Xiaofei Wang, Tetsuya Urasaki, Yasuyoshi Sato, Kenji Nakano, Makiko Ono, Junichi Tomomatsu, Hiroki Mitani, Shunji Takahashi","doi":"10.1507/endocrj.ej23-0378","DOIUrl":"https://doi.org/10.1507/endocrj.ej23-0378","url":null,"abstract":"</p><p>Proteinuria has been described as a major on-target adverse event of lenvatinib, although its long-term impact on renal function and clinical outcomes remains unclear. We conducted a retrospective observational study to assess renal function and prognosis in patients with radioiodine-refractory differentiated thyroid cancer (RR-DTC) receiving lenvatinib. Overall, 70 patients with RR-DTC treated with lenvatinib were enrolled. When proteinuria was observed, the dose and schedule of lenvatinib were adjusted to achieve a urine protein-to-creatinine ratio (UPCR) of less than 3.5 g/gCre according to the study protocols of recent pivotal trials. In total, 50 (71%) and 25 (36%) patients presented with any-grade and grade 3 proteinuria, respectively. Multivariate analysis revealed that age [&gt;65; odds ratio (OR) 8.24, 95% confidence interval (CI) 1.74–39.00, <i>p</i> &lt; 0.01], history of diabetes mellitus (OR 7.79, 95% CI 1.31–46.20, <i>p</i> = 0.02), and hypertension (OR 4.07, 95% CI 1.22–13.60, <i>p</i> = 0.02) were significantly associated with the development of grade 3 proteinuria. Overall, the median estimating glomerular filtration rate (eGFR) gradually decreased every 3 months during treatment. However, no significant deterioration in eGFR was observed in patients with grade 3 proteinuria compared with patients with grades 0–2 proteinuria until 48 months. Patients who developed proteinuria had better survival outcomes than those without proteinuria. In conclusion, the proteinuria grade was not significantly associated with decreased eGFR under UPCR monitoring in our study. Therefore, lenvatinib can carefully be continued targeting UPCR of less than 3.5 g/gCre.</p>\u0000<p></p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139644990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Composite paraganglioma-ganglioneuroma with atypical catecholamine profile and phenylethanolamine N-methyltransferase expression: a case report and literature review.","authors":"Yuriko Sasaki, Maki Kanzawa, Masaaki Yamamoto, Keitaro Kanie, Hironori Bando, Kei Yoshino, Yushi Hirota, Katsumi Shigemura, Masato Fujisawa, Wataru Ogawa, Hidenori Fukuoka","doi":"10.1507/endocrj.EJ23-0271","DOIUrl":"10.1507/endocrj.EJ23-0271","url":null,"abstract":"<p><p>Pheochromocytomas and paragangliomas (PPGLs) are rare tumors that secrete catecholamines and arise from the adrenal medulla or extra-adrenal sympathetic ganglia. These tumors secrete adrenaline and noradrenaline, but paragangliomas usually produce only noradrenaline because of the lack of phenylethanolamine N-methyltransferase (PNMT) expression. Composite paragangliomas, which are complex tumors consisting of multiple types of neuroblastic cells, are extremely rare. We present the case of a 46-year-old woman with an atypical catecholamine profile who was preoperatively diagnosed with pheochromocytoma. However, postoperative pathology revealed that the patient had an extra-adrenal paraganglioma accompanied by a ganglioneuroma, which led to the diagnosis of a composite tumor. Interestingly, PNMT is expressed in both paragangliomas and ganglioneuromas. In addition, we reviewed reported composite paragangliomas and compared their clinical features with those of composite pheochromocytomas. We also discuss various aspects of the etiology of composite paragangliomas and the mechanism by which PNMT is expressed in tumors.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89717390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The frequency of mutations in advanced thyroid cancer in Japan: a single-center study.","authors":"Soji Toda, Hiroyuki Iwasaki, Yoichiro Okubo, Hiroyuki Hayashi, Mei Kadoya, Hiroyuki Takahashi, Tomoyuki Yokose, Yukihiko Hiroshima, Katsuhiko Masudo","doi":"10.1507/endocrj.EJ23-0342","DOIUrl":"10.1507/endocrj.EJ23-0342","url":null,"abstract":"<p><p>We analyzed the outcomes of genetic testing to study the frequency of mutations in advanced thyroid cancer in Japan. Patients (n = 96) with unresectable or metastatic thyroid carcinoma were included for retrospective chart review. Results of gene panel testing, which was performed between May 2020 and April 2023, were analyzed. The median age of the patients was 73.5 years (range, 17-88); 59 were women, and 39 were men. Overall, 17 patients had anaplastic thyroid carcinoma (ATC), 68 had papillary thyroid carcinoma (PTC), 7 had follicular thyroid carcinoma, and 6 had poorly differentiated thyroid carcinoma (PDTC). Of the 81 patients with differentiated thyroid carcinoma (DTC) and PDTC, 88.9% were radioactive iodine-refractory, and 32.7% of all cases had previously been treated with multiple kinase inhibitors. Of ATC cases, 52.9% had BRAF mutations, and 5.9% had RET fusion. Of PTC cases, 83.1% had BRAF mutations, 9.2% had RET fusion, and 1.5% had NTRK fusion. One case each of ATC and PTC had a tumor mutation burden of ≥10. ATC cases had a significantly higher prevalence of TP53 alterations than the other cases (82.3% vs. 11.8%), whereas the frequencies of TERT promoter mutations were 88.2% in ATC cases and 64.7% in the other cases, albeit without a significant difference. In conclusion, 58.8% of ATC, 93.8% of PTC, and 42.9% of PDTC had genetic alterations linked to therapeutic agents. Active gene panel testing is required to increase treatment options.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138477061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}