Endocrine最新文献

{"title":"Magnitude and factors associated with diabetes mellitus among people living with HIV/AIDS in Eastern Africa. Evidence from Ethiopia, Kenya, Uganda and Tanzania. A systematic review and meta-analysis.","authors":"Zekarias Markos, Deginet Tesfaye Lonsako, Yegle Asrat Tekletsadik, Esubalew Muluneh Aligaz, Abraham Samuel Godebo, Temesgen Mamo, Abas Ali Hassen, Dawit Tafesse, Sintayehu Samuel Lorato, Dawit Alemu Lema","doi":"10.1007/s12020-026-04713-5","DOIUrl":"10.1007/s12020-026-04713-5","url":null,"abstract":"<p><strong>Background: </strong>The introduction of combination antiretroviral therapy (cART) has improved survival among people living with HIV (PLHIV) but increased the risk of non-communicable diseases, including diabetes mellitus (DM). In East Africa, estimates of DM prevalence among PLHIV vary widely, and contributing factors are not well defined. This study aimed to estimate the pooled prevalence of DM and identify associated risk factors among PLHIV in the region.</p><p><strong>Methods: </strong>A systematic review and meta-analysis were conducted following PRISMA 2020 guidelines (PROSPERO: CRD420251129591). Databases including PubMed, Embase, CINAHL, Web of Science, African Journals Online, and Google Scholar were searched for cross-sectional, cohort, and case-control studies reporting DM prevalence or associated factors among PLHIV aged ≥ 16 years in East Africa. Data were extracted independently by two reviewers, and study quality was assessed using the Joanna Briggs Institute checklist. A random-effects model using DerSimonian-Laird method was applied to estimate pooled prevalence. Heterogeneity was assessed with Cochran's Q and I², and publication bias was evaluated via funnel plot, Egger's test, and trim-and-fill analysis. Adjusted odds ratios (AORs) were pooled to identify factors associated with DM.</p><p><strong>Results: </strong>A total of fourteen studies were included. The pooled prevalence of DM was 6.4% (95% CI: 4.3-9.7%; I² = 94.9%). Trim-and-fill analysis did not change the estimate. Significant risk factors included higher education (AOR = 8.56, 95% CI: 3.82-19.17), obesity/overweight (AOR = 6.68, 95% CI: 2.58-17.32), positive family history of diabetes (AOR = 7.60, 95% CI: 3.56-16.22), longer duration of ART (AOR = 4.78, 95% CI: 1.22-18.81), and history of hypertension (AOR = 2.98, 95% CI: 1.69-5.27). Male sex and elevated triglycerides were not significantly associated.</p><p><strong>Conclusion: </strong>DM affects one in every 16 PLHIV in East Africa, with modifiable and non-modifiable risk factors identified. Integrating DM screening and preventive strategies into HIV care is critical to reduce cardio-metabolic complications.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":"91 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148654805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of undiagnosed type 2 diabetes in South Asia: A systematic review and meta-analysis.","authors":"Faiza Afzal, Imtiaz Ahmad, Kainat Khalid, Ikram Bashir, Sohail Akhtar","doi":"10.1007/s12020-026-04711-7","DOIUrl":"10.1007/s12020-026-04711-7","url":null,"abstract":"<p><strong>Purpose: </strong>Although South Asia exhibits a considerable burden of type 2 diabetes mellitus (T2DM), the numbers of undiagnosed T2DM remains inadequately characterized at the regional level. This systematic review and meta-analysis aimed to approximate the pooled prevalence of undiagnosed T2DM among the general adult population and to assess country-specific variations in South Asian countries.</p><p><strong>Methods: </strong>A comprehensive literature search was directed in PubMed, Scopus, Cochrane Library, ScienceDirect, and Web of Science for studies published between 1994 and 2022. Observational studies reporting the prevalence of undiagnosed T2DM among adults aged 20-79 years in South Asia were included. By using logit transformation, Random-effects meta-analysis was conducted to assess pooled prevalence. While using Cochran's Q and I² statistics Heterogeneity was calculated, publication bias was assessed using funnel plots and Egger's test, and subgroup analyses were performed by country.</p><p><strong>Results: </strong>In this review, a total of 28 studies containing 104,019 participants and 5719 undiagnosed T2DM cases were included. The observed pooled prevalence of undiagnosed T2DM was 6.67% (95% CI: 4.99-8.58%) with considerable uncertainty as indicated by a very wide prediction interval (0.33%-19.75%) and extreme heterogeneity (I² = 98.5%, p < 0.001). At country-level substantial variation was seen, with the highest prevalence in Sri Lanka (30.54%; 95% CI: 17.90-44.82%), followed by Nepal (7.02%; 95% CI: 4.24-10.44%), Pakistan (5.97%; 95% CI: 3.97-8.33%), Bangladesh (5.84%; 95% CI: 5.28-6.42%) and India (5.26%; 95% CI: 3.66-7.14%). The results of Egger's test (t = 1.84, p = 0.0773) suggested no statistical significance evidence of publication bias.</p><p><strong>Conclusion: </strong>These findings should be interpreted with attentiveness because of extensive heterogeneity and variability across studies. However, the high number of undiagnosed T2DM in general population of South Asia reflects a great burden and indicates inter-country differences. Therefore, this conclusion highlights the need for advanced surveillance systems, valid diabetes screening, and approach to health care facilities, especially in deprived and high-risk population in the region.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":"91 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13428718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148654733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Endothelial function and peak heart rate in normal-weight women with polycystic ovary syndrome and normal-weight controls.","authors":"Georgios Valsamakis, Dimitrios Terentes-Printzios, George Paltoglou, Thomas M Barber, Polina Pavli, Ioanna Dima, Chrysoula Koukoula, Ioannis Papassotiriou, Alexandra Bargiota, Ioannis Fatouros, Nikolaos F Vlahos, Charalampos Vlachopoulos, George Mastorakos","doi":"10.1007/s12020-026-04704-6","DOIUrl":"10.1007/s12020-026-04704-6","url":null,"abstract":"","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":"91 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148622190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive genomic profiling and tumor mutational burden in parathyroid carcinoma: a nationwide real-world study from Japan.","authors":"Yuko Takano, Toyone Kikumori, Dai Takeuchi, Takahiro Ichikawa, Yuichi Ando","doi":"10.1007/s12020-026-04714-4","DOIUrl":"10.1007/s12020-026-04714-4","url":null,"abstract":"<p><strong>Purpose: </strong>Parathyroid carcinoma (PC) is an extremely rare endocrine malignancy with limited treatment options for unresectable or recurrent cases. With the increasing use of comprehensive genomic profiling (CGP), treatment based on genomic findings is becoming more common. However, the frequency and clinical significance of elevated tumor mutational burden (TMB) in PC remain unclear because previous studies have been limited by small sample sizes.</p><p><strong>Methods: </strong>We retrospectively analyzed genomic and clinical data of patients with PC registered in the Center for Cancer Genomics and Advanced Therapeutics database in Japan between June 2019 and March 2025. TMB values were obtained as reported by each CGP assay. TMB-H was defined as TMB ≥ 10 mut/Mb for descriptive analyses. We also assessed genomic alterations, microsatellite instability (MSI) status, and clinicogenomic characteristics.</p><p><strong>Results: </strong>Twenty-five patients with PC were included. The median assay-reported TMB was 4.0 mut/Mb (range, 0-35). Seven tumors (28.0%) had assay-reported TMB values of ≥ 10 mut/Mb, including three (12.0%) with TMB ≥ 20 mut/Mb. The most frequently altered genes were CDC73 (40%), TP53 (32%), and MEN1 (24%). No co-alterations were observed between CDC73 and MEN1 or between CDC73 and TP53. One tumor was MSI-high and was included in the TMB-H group. POLE alterations were detected in three cases, including two tumors in the TMB-H group.</p><p><strong>Conclusion: </strong>This nationwide, real-world study demonstrated that a subset of PCs showed elevated assay-reported TMB values and genomic features potentially related to abnormalities in DNA replication or repair pathways. These findings support the clinical relevance of comprehensive genomic profiling in identifying the molecular heterogeneity and potential therapeutic opportunities for this rare malignancy.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":"91 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13373006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148450142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age at diabetes onset modifies the association between hyperuricemia and diabetic retinopathy: a real-world cross-sectional study.","authors":"Minghua Fan, Jun Li, Qiuju Zhou, Hui Shao, Lisha Ni","doi":"10.1007/s12020-026-04703-7","DOIUrl":"10.1007/s12020-026-04703-7","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;The role of hyperuricemia in diabetic retinopathy (DR) remains controversial, with limited evidence on how age at diabetes onset modifies this association. This study aimed to investigate the differential association of elevated uric acid (UA) with DR prevalence stratified by age at diagnosis.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We analysed cross-sectional data from 6,996 patients with type 2 diabetes mellitus, grouped by age at diabetes onset (younger-onset, &lt; 65 years; older-onset, ≥ 65 years) and UA status (normal vs. elevated: ≥420 µmol/L for men; ≥380 µmol/L for women). Multivariable logistic regression was used to estimate adjusted odds ratios (aORs) for the cross-sectional association between UA and prevalent DR. Pre-specified subgroup analyses with multiplicative interaction terms were conducted to explore whether this association differed across strata, with exact P-values reported; these analyses are exploratory and hypothesis-generating. Sensitivity analyses were performed using alternative age cutoffs (40, 50, 60 years), and variance inflation factors (VIFs) were calculated to evaluate collinearity between age at onset and diabetes duration.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 1,359 prevalent DR cases were identified among 6,996 participants. Elevated UA was significantly associated with higher odds of prevalent DR in younger-onset diabetes (aOR = 1.42, 95% CI: 1.17-1.73) but not in older-onset diabetes (aOR = 1.05, 95% CI: 0.61-1.79). However, a formal test for interaction between UA and age-at-onset group was not statistically significant (P-interaction = 0.295), indicating that the present data do not establish age at onset as an effect modifier; the older-onset stratum was small (992 patients, 116 DR events) and its estimate was correspondingly imprecise. The younger-onset association was robust to additional adjustment for albuminuria (aOR = 1.37, 95% CI: 1.12-1.67) and to a fully expanded model further adjusting for smoking, alcohol, urate-lowering therapy, and hypertension severity (aOR = 1.38, 95% CI: 1.12-1.70). Restricted cubic spline modelling showed a positive, approximately linear UA-DR relationship with no significant departure from linearity (P-nonlinearity = 0.31). When stratified by DR severity, elevated UA was more strongly associated with proliferative DR (aOR = 2.39, 95% CI: 1.24-4.61) than with non-proliferative DR (aOR = 1.31, 95% CI: 1.09-1.58). The E-value for the younger-onset association was 1.67 (lower confidence limit 1.38). Findings were consistent across alternative age cutoffs.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;In this cross-sectional analysis, elevated UA was independently associated with higher odds of prevalent DR among patients with younger-onset type 2 diabetes, whereas no significant association was detected in the smaller older-onset group. A formal interaction test was not significant, so the data do not establish age at onset as a true effect modifier, and the","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":"91 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13372924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148450178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AgRP reflects glucocorticoid action: integrated experimental and clinical evidence.","authors":"Natsuki Aoyama, Mitsuru Nishiyama, Yasumasa Iwasaki, Shuichi Nakayama, Mizuho Okazaki, Takafumi Taguchi, Masayuki Tsuda, Koshi Hashimoto, Shinya Makino, Shimpei Fujimoto","doi":"10.1007/s12020-026-04715-3","DOIUrl":"10.1007/s12020-026-04715-3","url":null,"abstract":"<p><strong>Purpose: </strong>Glucocorticoids (GCs) are key regulators of energy homeostasis. Clinically, patients with Cushing's syndrome exhibit obesity, whereas adrenal insufficiency is associated with weight loss. However, circulating biomarkers reflecting GC action have not been established. Agouti-related protein (AgRP), an orexigenic neuropeptide, is upregulated by GC in the rodent hypothalamus. Here, we investigated whether AgRP is a surrogate marker of GC action through in vitro and in vivo experiments as well as a clinical study.</p><p><strong>Methods: </strong>The GC-dependent transcriptional regulation of AgRP was examined using reporter assays in neuronal BE(2)C cells. In animal experiments, the effects of GC on hypothalamic AgRP mRNA expression in C57BL/6J mice were examined. Circulating AgRP levels were also analyzed in nine patients with adrenal Cushing's syndrome before and after surgery.</p><p><strong>Results: </strong>Two functional glucocorticoid-responsive elements (GREs) were identified in the human AgRP gene promoter, through which GC enhanced AgRP transcriptional activity. In mice, corticosterone (CORT) administration induced hyperphagia and increased hypothalamic AgRP mRNA levels, which positively correlated with plasma CORT levels. In patients with adrenal Cushing's syndrome, circulating AgRP levels significantly decreased after surgery (118.7 ± 40.3 vs. 37.7 ± 9.5 pg/mL, p < 0.01) and positively correlated with serum cortisol levels (r = 0.79, p < 0.01).</p><p><strong>Conclusion: </strong>These findings demonstrate that GC positively regulates AgRP across molecular, animal, and clinical settings, supporting the hypothesis that circulating AgRP may serve as a surrogate indicator of GC action. Further studies are warranted to establish its clinical applicability.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":"91 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13372879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148450207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Audiometric changes during teprotumumab therapy for thyroid eye disease: a prospective pilot study.","authors":"Joshua Van Swol, Jenna Spinello, Milan Bimali, Andrew Davis, Jade Burriss, Addie Flowers, Coby Ray, Jeremy J Donai","doi":"10.1007/s12020-026-04697-2","DOIUrl":"10.1007/s12020-026-04697-2","url":null,"abstract":"<p><strong>Purpose: </strong>To prospectively evaluate audiologic outcomes in patients with thyroid eye disease (TED) treated with teprotumumab, focusing on longitudinal changes in hearing sensitivity and cochlear function.</p><p><strong>Methods: </strong>Adult patients initiating teprotumumab therapy at a tertiary care center (2023-2025) underwent audiologic evaluations before, during, and after treatment. Pure-tone audiometry (500-12,500 Hz) and distortion product otoacoustic emissions (DPOAEs; 842-7996 Hz) were analyzed using three-level mixed-effects models to assess longitudinal changes, with secondary analyses controlling for baseline hearing loss.</p><p><strong>Results: </strong>Sixteen participants completed the study. Significant threshold elevations suggesting reduced hearing sensitivity were observed in 6 of 9 audiometric frequencies (p < 0.05), most prominent during active therapy. Partial recovery occurred post-treatment, though thresholds rarely returned to baseline. DPOAE analyses showed fewer consistent changes, with significant amplitude reductions at only 4 of 24 frequencies. Adjusting for baseline hearing loss reduced significance for isolated measures but not overall trends. As multiple comparisons were not formally adjusted for, these findings should be interpreted as exploratory and hypothesis-generating.</p><p><strong>Conclusions: </strong>Teprotumumab therapy appears to be associated with sensorineural hearing decline detected by audiometry but incompletely captured by DPOAEs. This mismatch suggests injury beyond outer hair cells, possibly involving inner hair cells or neural elements. These findings may support audiometric monitoring during treatment and further research into teprotumumab's ototoxic mechanisms during treatment of TED.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":"91 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148450170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tirzepatide as a multi-organ integrator in metabolic diseases: a review of molecular mechanisms and clinical translation.","authors":"Irshad Khan, Sarasa Meenakshi, Md Abubakar, Nitesh Kumar, Vinod L Gaikwad, Amita Rai, Krishna Murti","doi":"10.1007/s12020-026-04686-5","DOIUrl":"10.1007/s12020-026-04686-5","url":null,"abstract":"<p><strong>Introduction: </strong>Metabolic diseases, including type 2 diabetes mellitus (T2DM), obesity, dyslipidemia, Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD), and obstructive sleep apnoea (OSA), are characterized by a complex and interconnected pathophysiological syndrome. These conditions involve insulin resistance, chronic inflammation, and disturbances in energy homeostasis. Typically, they affect multiple organs and require comprehensive treatment.</p><p><strong>Objective: </strong>This narrative review examines the multi-organ effects of tirzepatide, a new dual agonist of the glucose-dependent insulinotropic peptide (GIP) and glucagon-like peptide-1 (GLP-1) receptors. Tirzepatide possesses innovative therapeutic properties and targets multiple metabolic pathways. The review incorporates peer-reviewed sources, including clinical trials, preclinical studies, and specialist reviews. Emphasis is placed on tirzepatide's physiological effects on pancreatic β-cells, adipose tissue, the liver, the gastrointestinal tract, the cardiovascular system, the kidneys, the brain, and gut microbiota.</p><p><strong>Key insights: </strong>Tirzepatide is a dual receptor agonist that increases insulin levels, decreases glucagon levels, slows gastric emptying, and promotes feelings of fullness, contributing to significant weight loss. Recent preclinical studies have shown that tirzepatide can also alter gut microbiota composition, leading to increased Bacteroidetes and decreased Firmicutes. Additionally, tirzepatide has been shown to enhance intestinal barrier integrity. Clinical trial programs, such as SURPASS and SURMOUNT, have demonstrated that tirzepatide provides improved glycemic control and weight loss compared to current treatments. Other benefits include improvements in lipid profiles, reduced hepatic steatosis, and potential protection for the heart and kidneys.</p><p><strong>Conclusion: </strong>Tirzepatide is a multi-organ integrator with a therapeutic effect extending beyond glucose regulation. It can influence bowel hormones, improve metabolic parameters, and facilitate communication between different organs, making it a promising treatment for metabolic disorders. However, its broader clinical applications need to be confirmed through additional real-life studies and extended evaluations.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":"91 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148370331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ultrasound-guided thermal ablation for papillary thyroid microcarcinoma with calcifications: short-term imaging outcomes.","authors":"Xinyi Zhou, Fan Yang, Lei Zhang, Bolin Wu, Zhao Liu, Yue Li, Xitian Liang, Yuanjuan Hu, Maoxiang Zhang, Wen Cheng, Qiucheng Wang","doi":"10.1007/s12020-026-04679-4","DOIUrl":"10.1007/s12020-026-04679-4","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the technical feasibility and short-term imaging evolution of ultrasound-guided thermal ablation for papillary thyroid microcarcinoma (PTMC) with calcification, while also analyzing the differences associated with calcification sizes.</p><p><strong>Methods: </strong>A total of 69 PTMCs with calcification were identified from 69 patients who underwent RFA or MWA between January 2022 and April 2025, and were retrospectively analyzed. The following outcomes were evaluated: technical success, changes in tumor volume and volume reduction rate (VRR), complete tumor disappearance, and complications.</p><p><strong>Results: </strong>The technical success rate was 100%. During a median follow-up of 15 months (range 6-33 months), significant differences in mean volume and VRR (versus baseline) were observed at all follow-up time points but not at the 3-month point. The overall complete disappearance rate was 43.5% (median 25 months), significantly higher and faster in the microcalcification group (55.3%; median 25 months) than that in the macrocalcification group (29.0%; median 30 months) (P = 0.029). The rate of overall complications was 2.9%, with no significant intergroup difference (2.6% vs. 3.3%, P = 1.000).</p><p><strong>Conclusions: </strong>Ultrasound-guided thermal ablation for PTMC with calcification is technically feasible. On short-term sonographic assessment, although favorable changes were observed, the macrocalcification group showed a lower complete disappearance rate and a longer median time to disappearance.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":"91 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148303760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Liquid biopsies for BRAF V600E assessment and monitoring in anaplastic thyroid carcinoma: a real-world study of a tertiary cancer center.","authors":"Elena Colombo, Elisa Ortolan, Stefano Cavalieri, Elena Tamborini, Federica Perrone, Iolanda Capone, Luca Agnelli, Biagio Paolini, Massimo Milione, Giuseppina Calareso, Monica Salvetti, Francesca Platini, Cristiana Bergamini, Salvatore Alfieri, Carlo Resteghini, Arianna Ottini, Francesca Caspani, Imperia Nuzzolese, Achille Bottiglieri, Giacomo Massa, Daria Maria Filippini, Giancarlo Pruneri, Lisa Licitra, Maria Grazia Daidone, Laura Deborah Locati","doi":"10.1007/s12020-026-04672-x","DOIUrl":"10.1007/s12020-026-04672-x","url":null,"abstract":"<p><strong>Background: </strong>Relapsed/metastatic anaplastic thyroid carcinoma (R/M ATC) is associated with poor prognosis. Approximately 40% of ATCs harbor the BRAFV600E mutation, for which targeted therapy is available. However, the clinical characteristics of BRAFV600E-mutant versus wild-type ATC and the role of liquid biopsy (LB) for molecular assessment and monitoring remain incompletely defined.</p><p><strong>Methods: </strong>Consecutive patients with R/M ATCs treated at a tertiary referral center were stratified as BRAF wild-type (Cohort A) or BRAFV600E-mutant (Cohort B). Patients received chemotherapy, dabrafenib and trametinib (BRAF/MEKi), immune checkpoint inhibitors (ICI) or best supportive care. Tumor tissue (TB) was analyzed by RT-PCR and/or next-generation sequencing (NGS). Circulating cell-free DNA was assessed by droplet digital PCR (ddPCR) and/or a 52-gene NGS panel on LB at baseline in both cohorts and longitudinally in Cohort B. Clinical characteristics, treatment outcomes, and concordance between TB and LB were evaluated.</p><p><strong>Results: </strong>Between 2018 and 2021, 24 patients were included (13 Cohort A, 11 Cohort B). BRAFV600E tumors more frequently presented with metastatic disease at diagnosis (81.8% vs. 15.4%, p = 0.003). Overall, 79% received first-line therapy and 41.6% second-line treatment. All patients in Cohort B received BRAF/MEK inhibitors, achieving a median progression-free survival of 3.2 months (95% CI 1.2-17.5). Concordance for BRAFV600E status between TB and LB assessed by ddPCR was 93.7% (specificity 100%, sensitivity 85.7%). Among 12 paired TB/LB NGS analyses, overall mutation concordance was 30%. In longitudinal assessment, LB anticipated disease progression in 3 of 6 cases and, in one case, identified emerging secondary alterations during BRAF/MEK inhibitor therapy.</p><p><strong>Conclusions: </strong>BRAFV600E-mutant ATC displays distinct clinical features and improved survival when treated with targeted therapy; ddPCR-based liquid biopsy provides a rapid and sensitive method for BRAFV600E detection and may support timely therapeutic decision-making. Serial LB analysis may contribute to disease monitoring and detection of resistance mechanisms in selected patients.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":"91 1","pages":""},"PeriodicalIF":3.3,"publicationDate":"2026-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13291066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148303755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}