European Thyroid Journal最新文献

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Development of animal models to study aggressive thyroid cancers.
IF 3.5 2区 医学
European Thyroid Journal Pub Date : 2025-01-01 DOI: 10.1530/ETJ-24-0361
Shovan Dutta, Jeffrey A Knauf
{"title":"Development of animal models to study aggressive thyroid cancers.","authors":"Shovan Dutta, Jeffrey A Knauf","doi":"10.1530/ETJ-24-0361","DOIUrl":"10.1530/ETJ-24-0361","url":null,"abstract":"<p><p>The development of mouse models for thyroid cancer has significantly advanced over the years, enhancing our understanding of thyroid tumorigenesis, molecular pathways, and treatment responses. The earliest mouse models of thyroid cancer relied on hormone, radiation, or chemical carcinogenesis to induce tumors. However, as our understanding of the genetic alterations driving thyroid cancer has expanded, more sophisticated genetic engineering techniques have been employed to create models with thyroid-specific expression of these driver mutations. While driver mutations can initiate tumorigenesis, they are often insufficient to sustain cancer progression and invasion, which significantly limits their usefulness in studying advanced thyroid cancers. Recent studies exploring the genomic landscape of advanced thyroid cancer have identified several cooperating mutations, which are secondary genetic alterations that work alongside driver mutations to promote thyroid tumor progression. Indeed, mice with a combination of oncogenic drivers and common cooperating alterations have been developed, demonstrating that these alterations function in conjunction with the oncogenic driver to promote the progression to advanced thyroid cancer. These models provide important preclinical tools to explore how cooperating alterations influence the response to therapies, particularly those targeting the oncogenic driver. This review will focus on recent publications that broaden the scope of advanced thyroid cancer models by combining thyroid-specific oncogenic driver expression with various cooperating mutations.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Differences and analogies in thyroid cancer discovered incidentally or by thyroid related screening: A multicenter study.
IF 3.5 2区 医学
European Thyroid Journal Pub Date : 2025-01-01 DOI: 10.1530/ETJ-24-0190
Laura Croce, Rosaria Maddalena Ruggeri, Camilla Virili, Carlo Cappelli, Marsida Teliti, Pietro Costa, Spyridon Chytiris, Antonio Nicocia, Francesca Coperchini, Maria Flavia Bagaglini, Flavia Magri, Alfredo Campenni, Mario Rotondi
{"title":"Differences and analogies in thyroid cancer discovered incidentally or by thyroid related screening: A multicenter study.","authors":"Laura Croce, Rosaria Maddalena Ruggeri, Camilla Virili, Carlo Cappelli, Marsida Teliti, Pietro Costa, Spyridon Chytiris, Antonio Nicocia, Francesca Coperchini, Maria Flavia Bagaglini, Flavia Magri, Alfredo Campenni, Mario Rotondi","doi":"10.1530/ETJ-24-0190","DOIUrl":"10.1530/ETJ-24-0190","url":null,"abstract":"<p><strong>Objective: </strong>The prevalence of Thyroid-Cancer (TC) has increased worldwide and an association with metabolic and cardio-vascular disorders has been reported. Moreover, an increasing percentage of patients are currently diagnosed incidentally through non-thyroid related imaging for other clinical conditions. Our aim was to assess the prevalence of Thyroid-Related (TD) versus Incidental (ID) pre-surgery reasons leading to TC diagnosis and to compare the two groups in terms of clinical characteristics, size and severity of TC at presentation and rate of non-thyroid cancers and cardiovascular/metabolic comorbidities.</p><p><strong>Design: </strong>we performed a retrospective cohort study in three high-volume hospital-based centers for thyroid diseases (Pavia, Latina and Messina) in Italy.</p><p><strong>Patients: </strong>Consecutive patients with TC Measurements: data on pre-surgery reasons leading to TC diagnosis, age, sex, BMI, presence of cardio-metabolic comorbidities and non-thyroid cancer.</p><p><strong>Results: </strong>among the 327 enrolled subjects the diagnosis of TC was prompted by thyroid-related reasons in 262 (80.1%, TD group) and incidental in 65 (19.9%, ID group). The ID group patients were more frequently males, significantly older and with a higher BMI than the TD group ones, they had a higher rate of non-thyroidal cancers and cardiovascular/metabolic comorbidities. No significant differences could be observed in terms of TC histotype, cancer size, extra-thyroidal extension, lymph-node metastases, AJCC Staging or ATA Risk stratification.</p><p><strong>Conclusions: </strong>biological features of TC are similar in the TD and ID groups, but patients in the two groups display significant differences regarding their clinical features.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143022730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Newborn screening and the screening laboratory: past, present and future.
IF 3.5 2区 医学
European Thyroid Journal Pub Date : 2025-01-01 DOI: 10.1530/ETJ-24-0325
Anita Boelen, Annemieke C Heijboer
{"title":"Newborn screening and the screening laboratory: past, present and future.","authors":"Anita Boelen, Annemieke C Heijboer","doi":"10.1530/ETJ-24-0325","DOIUrl":"https://doi.org/10.1530/ETJ-24-0325","url":null,"abstract":"<p><p>Thyroid hormone (TH) is essential for brain development in utero and during the first two to three years of life. The negative effects of TH deficiency on brain development are irreversible. Early detection of TH deficiency in neonates (congenital hypothyroidism (CH) through newborn screening (NBS)) allows for early treatment, thereby preventing brain damage. Screening for CH began in 1973 with the measurement of total thyroxine (T4) in dried blood spots. The enhanced sensitivity of Thyroid Stimulating Hormone (TSH) measurement has prompted a shift in the approach to NBS for CH. Currently, worldwide, the majority of NBS programs for CH employ TSH as the primary screening marker. However, a select few programs still utilize T4 as the primary marker, enabling the detection of both primary and central CH. This review provides an overview of the laboratory aspects of the screening on CH from the start of screening to the present.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143032701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Higher prevalence of gestational diabetes in euthyroid women with thyroid autoimmunity who were expecting a female foetus.
IF 3.5 2区 医学
European Thyroid Journal Pub Date : 2025-01-01 DOI: 10.1530/ETJ-24-0339
Madhu Prasai, Manon Lomré, Emna Jelloul, Pierre Kleynen, Flora Veltri, Georgiana Sitoris, Lidia Grabczan, Serge Rozenberg, Kris G Poppe
{"title":"Higher prevalence of gestational diabetes in euthyroid women with thyroid autoimmunity who were expecting a female foetus.","authors":"Madhu Prasai, Manon Lomré, Emna Jelloul, Pierre Kleynen, Flora Veltri, Georgiana Sitoris, Lidia Grabczan, Serge Rozenberg, Kris G Poppe","doi":"10.1530/ETJ-24-0339","DOIUrl":"https://doi.org/10.1530/ETJ-24-0339","url":null,"abstract":"<p><strong>Objective: </strong>In the general population, women pregnant with a male foetus (MF) have a higher prevalence of gestational diabetes mellitus (GDM) compared with those pregnant with a female foetus (FF). Some studies suggest a higher prevalence of GDM in euthyroid pregnant women with thyroid autoimmunity (TAI+) compared with women without TAI (TAI-). However, whether the impact of TAI on GDM correlates with foetal gender has not been documented.</p><p><strong>Design/methods: </strong>A single centre cohort study including 1201 women screened at median 12 (11-14) weeks of pregnancy for thyroid disorders (TSH, free T4 (FT4), TPOAb,) and at 24-28 weeks for GDM with an oral glucose tolerance test. Exclusion criteria were pre-pregnancy diabetes or hypertension, thyroid dysfunction (treated or untreated) before and after screening, thyroid screening after 20 weeks of pregnancy, and assisted pregnancies. The diagnosis of GDM was based diagnosed according on the 2013 WHO criteria, and that of TAI by increased TPOAb levels (≥ 60 kIU/L).</p><p><strong>Results: </strong>Overall, 622 women were expecting a FF (51.8%) and 579 a MF (48.2%). Seventy-five women were TAI+ (6.2%). The overall prevalence of GDM was 19.6%, 28% in TAI+ women and 19% in TAI- women (p = 0.008 after adjustment for confounders). In women who were expecting a FF, the prevalence of GDM was 34.4% in TAI+ women vs 19.2 % in TAI- women; p = 0.002.</p><p><strong>Conclusions: </strong>The prevalence of GDM was increased in euthyroid TAI+ women, but only in the case of pregnancies with a FF. This is opposite to the result observed in the general population and deserves more research to explore the underlying mechanisms.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparison of Short-term Outcomes Following Minimally Invasive (Endoscopic/Robotic) vs Open Thyroidectomy for Patients With Thyroid Cancer.
IF 3.5 2区 医学
European Thyroid Journal Pub Date : 2025-01-01 DOI: 10.1530/ETJ-24-0134
Tingting Li, Yu Gui, Xiang Cui, Xin Wu, Xi Yang, Jing Liu, Shichao Li, Li Chen
{"title":"Comparison of Short-term Outcomes Following Minimally Invasive (Endoscopic/Robotic) vs Open Thyroidectomy for Patients With Thyroid Cancer.","authors":"Tingting Li, Yu Gui, Xiang Cui, Xin Wu, Xi Yang, Jing Liu, Shichao Li, Li Chen","doi":"10.1530/ETJ-24-0134","DOIUrl":"10.1530/ETJ-24-0134","url":null,"abstract":"<p><p>Background Selection between open thyroidectomy (OT) and minimally invasive (endoscopic/robotic) thyroidectomy (MT) for patients with thyroid cancer has been a subject of considerable debate. Comprehensive analysis of the short-term outcomes of endoscopic thyroidectomy (ET), robotic thyroidectomy (RT) and OT for thyroid cancer using a large-scale dataset is important. Methods This cohort study evaluated the outcomes of patients receiving ET, RT vs OT for thyroid cancer from January 1, 2003, to December 31, 2022. Propensity score matching was performed among patients treated with ET, RT or OT to balance covariates distribution. This study involved single-institutional patients (aged 18-70) who had undergone ET, RT or OT for thyroid cancer. Results The study included 11066 thyroid cancer patients (OT group: mean [SD] age, 42.45 [10.84] years; ET group: mean [SD] age, 36.75 [9.32] years; RT group: mean [SD] age, 40.27 [10.42] years). After PSM for demographic and clinical characteristics, 908 matched pairs of patients (ET vs. OT) and 1480 matched pairs (RT vs. OT) were included for further analysis. Complication analysis revealed that RT was associated with a lower rate of transient hypoparathyroidism (339 [22.9%] vs. 687 [46.4%]; p <0.001), a lower rate of permanent hypoparathyroidism (4 [0.3%] vs. 16 [1.1%]; p =0.012) and a lower rate of transient recurrent laryngeal nerve injury (63 [4.3%] vs. 89 [6.0%]; p =0.037). Conclusion This cohort study analyzed the short-term outcomes between ET, RT and OT in a large sample of patients with thyroid cancer over a period of two decades. PSM provided a comparable cohort, and the results suggested the advantage of RT, which reduced Clavien‒Dindo grade Ⅰ complications in the surgical treatment of thyroid cancer.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143022657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MicroRNA regulator gene mutations in thyroid follicular nodular disease and thyroid cancer: does it all come down to timing? 甲状腺滤泡结节病和甲状腺癌中的微RNA调控基因突变:时机是否决定一切?
IF 3.5 2区 医学
European Thyroid Journal Pub Date : 2024-12-19 Print Date: 2024-12-01 DOI: 10.1530/ETJ-24-0298
Vincenzo Condello, C Christofer Juhlin
{"title":"MicroRNA regulator gene mutations in thyroid follicular nodular disease and thyroid cancer: does it all come down to timing?","authors":"Vincenzo Condello, C Christofer Juhlin","doi":"10.1530/ETJ-24-0298","DOIUrl":"10.1530/ETJ-24-0298","url":null,"abstract":"<p><p>In recent years, germline mutations in the microRNA (miRNA) processor genes DICER1 and DGCR8 have been coupled to the development of thyroid follicular nodular disease (TFND), thereby casting new light on the etiology of this enigmatic, benign condition in non-iodine-deficient regions. Moreover, DICER1 and DGCR8 mutations have also been reported in rare subsets of follicular cell-derived thyroid carcinomas. Specifically, truncating germline or missense somatic DICER1 mutations have been reported in small subsets of pediatric and adolescent follicular thyroid carcinoma (FTC) and poorly differentiated thyroid carcinoma (PDTC). Similarly, a recurrent somatic mutation of the DGCR8 gene has been observed in highly aggressive FTCs and in some indolent cases of encapsulated follicular variant of papillary thyroid carcinoma. The reason why identical mutations in the same miRNA processor gene can lead to such a myriad of thyroid conditions, ranging from benign TFND to FTCs and PDTCs, remains unclear. This review highlights key features of miRNA regulator gene mutations in thyroid disease and explores their potential roles as drivers or progression events in tumor development.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142727403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thyroid response to blocking sympathetic activity in chronic cold exposed hunters in East Greenland: a case-control study. 在东格陵兰岛长期暴露于寒冷的猎人中,甲状腺对阻断交感神经活动的反应:一项病例对照研究。
IF 3.5 2区 医学
European Thyroid Journal Pub Date : 2024-12-01 DOI: 10.1530/ETJ-24-0272
Mette Motzfeldt Jensen, Charlotte Almasi, Hans Christian Florian Sørensen, Stine Linding Andersen, Stig Andersen
{"title":"Thyroid response to blocking sympathetic activity in chronic cold exposed hunters in East Greenland: a case-control study.","authors":"Mette Motzfeldt Jensen, Charlotte Almasi, Hans Christian Florian Sørensen, Stine Linding Andersen, Stig Andersen","doi":"10.1530/ETJ-24-0272","DOIUrl":"https://doi.org/10.1530/ETJ-24-0272","url":null,"abstract":"<p><strong>Background: </strong>Thyroid hormones and sympathetic stimulation are needed for activating Brown adipose tissue (BAT) during cold exposure. Studies of human cold exposure have demonstrated both increased production and raised clearance of triiodothyronine (T3). Greenlandic hunters provide a unique model for evaluating metabolic effects of cold exposure.</p><p><strong>Aim: </strong>We aimed to explore the dynamics of thyroid hormones when blocking sympathetic activity in Greenlandic hunters during winter to inspire knowledge on mechanisms of BAT activation.</p><p><strong>Methods: </strong>We conducted a 7-day field study of Greenlandic hunters (n=7) in East Greenland in February. The sympathetic system was blocked using a non-selective beta blocker for seven consecutive days. A group of non-hunter Greenlanders (n = 8) from the same settlement were included for parallel sampling. All participants were healthy men. Blood samples were drawn daily for measurement of TSH, thyroid hormone levels, and thyroglobulin.</p><p><strong>Results: </strong>Hunters had higher serum thyroglobulin, TSH, and high fT3/fT4 ratio compared to controls. Blocking the sympathetic activity was followed by changes in serum thyroglobulin and fT3 with an initial decrease and subsequent restoration of levels, while TSH and fT4 showed a gradual increase over the course of the study. The fT3/fT4 ratio showed a continuous and marked decrease.</p><p><strong>Conclusion: </strong>We hypothesise that when blocking the sympathetic system, TSH increases to uphold the production of T3 needed for maintaining BAT activity. Additionally, alterations of fT3/fT4-ratio support a hypothesis of adrenergic stimulation promoting T3 over T4 secretion from the thyroid via the adrenergic nerve terminals in the thyroid.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Development of an enzyme-linked immunosorbent assay for newborns dried blood spot thyroglobulin. 为新生儿干血斑甲状腺球蛋白开发酶联免疫吸附试验。
IF 3.5 2区 医学
European Thyroid Journal Pub Date : 2024-11-25 Print Date: 2024-12-01 DOI: 10.1530/ETJ-24-0142
Camilo Fuentes Peña, María Cecilia Opazo, Luis Méndez, Claudia Riedel, Bernard Hauquier, Lionel Marcelis, Frédéric Cotton, Rodrigo Moreno-Reyes
{"title":"Development of an enzyme-linked immunosorbent assay for newborns dried blood spot thyroglobulin.","authors":"Camilo Fuentes Peña, María Cecilia Opazo, Luis Méndez, Claudia Riedel, Bernard Hauquier, Lionel Marcelis, Frédéric Cotton, Rodrigo Moreno-Reyes","doi":"10.1530/ETJ-24-0142","DOIUrl":"10.1530/ETJ-24-0142","url":null,"abstract":"<p><strong>Background: </strong>Thyroglobulin (Tg) is a biomarker of iodine status. Newborn Tg is a more sensitive marker than neonatal TSH in detecting variations in iodine intake. This study aims to validate an enzyme-linked immunosorbent assay (ELISA) for Tg determination on dried blood spots (DBS) in newborns. This study also sets out to assess the stability of Tg and the influence of newborns' hematocrit on Tg determination.</p><p><strong>Methods: </strong>A commercially available ELISA Tg assay was adapted for use on DBS. DBS-Tg in cord blood was measured in 209 newborns delivered from healthy euthyroid pregnant women. Sensitivity, linearity, repeatability, and intermediate fidelity were determined using the appropriate standards and quality control materials.</p><p><strong>Results: </strong>The limit of detection of the DBS-Tg assay was 2.4 µg/L, and the limit of quantification was 5.8 µg/L. Repeatability and intermediate fidelity were 7.7-8.3% and 11.0-11.2%, respectively. The median cord plasma Tg and DBS-Tg values in newborns were not significantly different, 30.2 (21.3-44.4) µg/L and 31.6 (19.3-48.7) µg/L (P = 0.48) with the ELISA, respectively, and 76.5 (40.0-101.5) µg/L with the Elecsys assay with an R = 0.88. DBS-Tg concentrations decrease with increasing hematocrit values (P < 0.05). DBS-Tg values were stable at a concentration of 25 µg/L for 12 months at -20ºC and 4ºC.</p><p><strong>Conclusion: </strong>This DBS-Tg assay demonstrated good analytical performance over a wide range of Tg concentrations, suggesting it is well suited to detecting variations in Tg concentrations. Studies comparing populations with different prevalence of anemia should consider the effect of hematocrit on DBS-Tg determination. The availability of a DBS-Tg assay for newborns makes it possible to integrate iodine status monitoring with newborn screening for inherited metabolic diseases.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Toward a treatment for thyroid hormone transporter MCT8 deficiency - achievements and challenges. 治疗甲状腺激素转运体 MCT8 缺乏症:成就与挑战。
IF 3.5 2区 医学
European Thyroid Journal Pub Date : 2024-11-20 Print Date: 2024-12-01 DOI: 10.1530/ETJ-24-0286
Boyka Markova, Steffen Mayerl, Heike Heuer
{"title":"Toward a treatment for thyroid hormone transporter MCT8 deficiency - achievements and challenges.","authors":"Boyka Markova, Steffen Mayerl, Heike Heuer","doi":"10.1530/ETJ-24-0286","DOIUrl":"10.1530/ETJ-24-0286","url":null,"abstract":"<p><p>Patients with an inactive thyroid hormone (TH) transporter MCT8 (Allan-Herndon-Dudley Syndrome, AHDS) display severe neurological impairments and motor disabilities, indicating an indispensable function of MCT8 in facilitating TH access to the human brain. Consequently, the CNS of AHDS patients appears to be in a TH deficient state, which greatly compromises proper neural development and function. Another hallmark of this disease is that patients exhibit elevated serum T3 levels, leading to a hyperthyroid situation in peripheral tissues. Several treatment strategies have been developed and evaluated in preclinical mouse models as well as in patients. Here, we discuss these different therapeutic approaches to overcome MCT8 deficiency and summarize the current achievements and challenges in improving brain maturation in the absence of MCT8.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623285/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Real word outcomes of cabozantinib therapy in poorly differentiated thyroid carcinoma. 卡博替尼治疗分化不良甲状腺癌的真实疗效。
IF 3.5 2区 医学
European Thyroid Journal Pub Date : 2024-11-20 Print Date: 2024-12-01 DOI: 10.1530/ETJ-24-0225
Omar Elghawy, Adam Barsouk, Jessica Xu, Simon Chen, Roger B Cohen, Lova Sun
{"title":"Real word outcomes of cabozantinib therapy in poorly differentiated thyroid carcinoma.","authors":"Omar Elghawy, Adam Barsouk, Jessica Xu, Simon Chen, Roger B Cohen, Lova Sun","doi":"10.1530/ETJ-24-0225","DOIUrl":"10.1530/ETJ-24-0225","url":null,"abstract":"<p><strong>Objective: </strong>Poorly differentiated thyroid carcinomas (PDTCs) are rare and aggressive head and neck malignancies with a poor prognosis. Systemic treatment for incurable PDTC consists of multi-kinase inhibitors (MKIs) based on extrapolation from the experience with radioiodine refractory differentiated thyroid cancer (DTC). Cabozantinib is an approved second-line MKI therapy for DTC, but there are limited data regarding the safety and efficacy of cabozantinib for PDTC.</p><p><strong>Methods: </strong>We conducted a single-institution, retrospective analysis of patients with PDTC who received cabozantinib in any line of therapy. Baseline demographics, disease characteristics, treatment history, toxicity, and clinical outcomes were abstracted from the electronic medical record. Median progression-free survival (PFS) and overall survival (OS) were primary endpoints and estimated using Kaplan-Meier methodology.</p><p><strong>Results: </strong>Seven patients with PDTC who received cabozantinib were included. 4/7 (57%) patients had a partial response to cabozantinib, while 2/7 (29%) had stable disease (SD) as their best response. The median time on treatment for cabozantinib was 10.53 months. The median PFS from the start of cabozantinib was 12.9 months, and median OS was 14.21 months. Most adverse events to treatment (5/6) were low grade. Two (29%) patients were alive at the date of the last follow-up.</p><p><strong>Conclusion: </strong>Cabozantinib is an effective and reasonably well-tolerated treatment option for patients with PDTC. Prospective studies are needed to further investigate the role of cabozantinib in the treatment of PDTC, alone and in combination with other agents, including checkpoint inhibitors.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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