Endocrine-related cancer最新文献

{"title":"Genotype-specific neoplastic risk profiles in patients with VHL disease.","authors":"Athina Ganner, Alfonso Massimiliano Ferrara, Peggy Sekula, Francesca Schiavi, Julia H Joo, Gabriela Sanso, Madson Q Almeida, Anna Laura Knoblauch, Christine Julia Gizaw, Karol Krzystolik, Sophie Charlotte Astheimer, Maria Isabel Achatz, Ana Vieites, Diane Donegan, Thomas Hundsberger, Jan Lubinski, Ilgin Yildirim Simsir, Tushar Bandgar, Kornelia Hasse-Lazar, Agnieszka Pawlaczek, Wouter Zandee, Kai Yu, Claudio E Kater, Liliya Rostomyan, Xiao-Ping Qi, Timo Deutschbein, Hanna Remde, Tabatha Nakakogue Dallagnol, Marina Yukina, Rene Baudrand, Corina E Andreescu, Tada Kunavisarut, Nur Diana Ishak, Xavier Le Guillou Horn, Gemma Shutler, Milan Jovanovic, Mariola Pęczkowska, Jan Calissendorff, Francesco Circosta, Maria João Bugalho, Eleonora P M Corssmit, Oliver Gimm, Marcus Quinkler, Andrea Goldmann, Sara Watutantrige Fernando, Stefania Zovato, Lucas S Santana, Felipe Freitas-Castro, Christian Rothermundt, Josa Zimmermann, Asude Durmaz, Ayca Aykut, Laurent Vroonen, Tobias Krauss, Christian Taschner, Juri Ruf, Jan-Helge Klingler, Sven Gläsker, Stefan Lang, Felicitas Bucher, Hansjürgen Agostini, Cordula Jilg, Wolfgang Schultze-Seemann, Birke Bausch, Antonia Bergfeld, Kilian Rhein, Thomas Uslar, Antonio Concistrè, C Christofer Juhlin, José Cláudio Casali-da-Rocha, Luigi Petramala, Uliana Tsoy, Elena Grineva, Xu-Dong Fang, Fruzsina Kotsis, Tobias Schaefer, Thera P Links, Özer Makay, Gustavo F C Fagundes, Joanne Ngeow, Nalini Shah, Giuseppe Opocher, Marta Barontini, Catharina Larsson, Andrzej Januszewicz, José Viana Lima, Nelson Wohllk, Claudio Letizia, Gianluca Donatini, Eamonn R Maher, Dmitry Beltsevich, Irina Bancos, Cezary Cybulski, Martin K Walz, Anna Köttgen, Charis Eng, Hartmut P H Neumann, Elke Neumann-Haefelin","doi":"10.1530/ERC-24-0260","DOIUrl":"10.1530/ERC-24-0260","url":null,"abstract":"<p><p>Hereditary tumor predisposition syndromes pose a challenge for early detection and timely treatment of tumors. In von Hippel-Lindau disease, desirable personalized surveillance programs are lacking due to insufficient data on genotype-specific risk profiles of individual mutations. To describe neoplastic risk profiles for carriers of pathogenic and likely pathogenic VHL germline mutations, our observational study recruited 1,350 participants from 40 centers worldwide. 432 different VHL germline mutations were observed, with p.Asn78Ser, p.Arg161Ter, p.Arg161Gln, p.Arg167Gln, p.Arg167Trp and p.Tyr98His being the six most frequent, occurring in a total of 493 carriers (36.5%) and in ≥30 patients each. Age-related penetrance risks for retinal hemangioblastoma, central nervous system hemangioblastoma, renal cell carcinoma, pancreatic neuroendocrine tumors and pheochromocytoma/paraganglioma in carriers of the most frequent VHL mutations were assessed. In addition, the number of organs affected, the frequency of surgery and the outcome are reported. Pairwise comparisons of the age-dependent tumor penetrance of these six mutations showed that 47 out of 90 pairs were significantly different. The most significant associations were found in p.Tyr98His (n = 19), followed by p.Arg161Ter (n = 10). All pairwise comparisons of mutations affecting different codons showed at least one significant (P < 0.05) difference, except for p.Asn78Ser vs p.Arg161Ter. Thus, tumor risk varied by VHL mutation type and location, but did not differ between the truncating mutation p.Arg161Ter and the missense mutation p.Asn78Ser. Our study demonstrates the importance of mutation-specific phenotype prediction. With appropriate validation, the data have important implications for risk assessment and decision making in tumor prevention for carriers of the respective VHL mutations.</p>","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":"32 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12060576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144061044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spanish consensus on the diagnosis and management of adrenocortical carcinoma.","authors":"Marta Araujo-Castro, Cristina Álvarez-Escola, Ana Casteràs, Alberto Carmona-Bayonas, María-Dolores Chiara, Felicia A Hanzu, Jorge Hernando, José L Vercher-Conejero, Macarena Rodríguez-Fraile, Victoria Gómez Dos Santos, Paula Jimenez-Fonseca, Alexandra Giraldo, Nuria Valdés, Oscar Vidal, Maribel Del Olmo-García, Jaume Capdevila","doi":"10.1530/ERC-25-0034","DOIUrl":"https://doi.org/10.1530/ERC-25-0034","url":null,"abstract":"<p><p>Adrenocortical carcinoma (ACC) is a rare endocrine malignancy with an estimated incidence of 0.7-2 cases per million/year. The rarity of this disease, coupled with limited preclinical models and clinical trials, has hindered progress, resulting in poor outcomes, with a 5-year survival rate of approximately 35%. Currently, the only available curative treatment is complete surgical resection of the adrenal tumor. For unresectable or metastatic ACC, the current standard therapeutic modalities are mitotane, chemotherapy, radiotherapy and locoregional treatments; however, these are noncurative. Mitotane has an adrenolytic and anti-steroidogenic effect, and it is used in the adjuvant setting for high-risk patients, as systemic therapy for metastatic disease, and/or to control hormonal secretion. While key pathways in ACC pathogenesis have been identified as potential therapeutic targets, results with targeted therapies remain modest, showing that there is a clinical unmet need for novel treatments or new combinations of exiting drugs. Effective management requires a multidisciplinary team of experts to optimize outcomes for patients. This article presents a multidisciplinary consensus on the diagnosis, management, prognosis and follow-up of patients with ACC, and the approach to two special contexts, ACC in pregnant women and hormone-producing ACC. The consensus was coordinated by the Spanish Society of Endocrinology and Nutrition (SEEN) and the Spanish Group of Neuroendocrine and Endocrine Tumors (GETNE), with contribution from experts from related societies including the Spanish Association of Surgeons (AEC), Spanish Society of Urology (AEU), Anatomic-Pathology (SEAP), Nuclear Medicine (SEMNIM), Medical Oncology (SEOM) and Radiotherapeutic Oncology (SEOR).</p>","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":"32 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053981/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From bench to bedside in the sella: translational developments in pituitary tumour genetics.","authors":"Sunita M C De Sousa","doi":"10.1530/ERC-24-0272","DOIUrl":"10.1530/ERC-24-0272","url":null,"abstract":"<p><p>The two most prevalent pituitary tumour types are pituitary adenomas (also referred to as pituitary neuroendocrine tumours or pitNETs) and craniopharyngiomas, collectively accounting for 98% of all pituitary tumours. The genetic basis of these pituitary tumours is partly understood. In pituitary adenomas, established predisposition genes in the germline setting are MEN1, PRKAR1A, AIP, CDKN1B, GPR101 and the SDHx genes, while somatic driver mutations are well described in GNAS in somatotrophinomas and in USP8 in corticotrophinomas. Craniopharyngiomas are not heritable tumours, but there is a clear genetic basis at the somatic level, with clonal CTNNB1 and BRAF variants present in approximately 95% of adamantinomatous and papillary craniopharyngiomas, respectively. This review explores mechanistic developments in these established genes, new genes in the pituitary adenoma setting (e.g. MAX, CABLES1, CDH23, PAM or CHEK2), and emerging uses of CTNNB1/BRAF testing in the craniopharyngioma setting. It concludes with a discussion of the bench-to-bedside translations of these scientific discoveries as they pertain to clinicians seeing patients with these sellar tumours. In current clinical practice, the most readily applicable and directly impactful translations of recent pituitary genetic research are the opportunities for germline DNA testing for familial pituitary tumour syndromes and tumour DNA testing of craniopharyngiomas to confirm diagnosis (adamantinomatous/papillary craniopharyngioma) and guide treatment (in papillary craniopharyngioma).</p>","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143805174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sexual dimorphism in thyroid cancer: evidence from preclinical studies.","authors":"Francesca Coperchini, Alessia Greco, Paolo Caccavale, Isabella Chiardi, Laura Croce, Marsida Teliti, Flavia Magri, Mario Rotondi","doi":"10.1530/ERC-24-0348","DOIUrl":"10.1530/ERC-24-0348","url":null,"abstract":"<p><p>Thyroid cancer (TC) exhibits strong sexual dimorphism, with higher incidence rates observed in females and more aggressive behavior in males. This disparity arises from complex interactions among genetic, hormonal and environmental factors. Data from preclinical studies evidenced a crucial role of sex hormones in driving TC prevalence and/or progression in males and females. In particular, estrogens would play a pro-tumorigenic role by directly activating estrogen receptor pathways and indirectly influencing tumorigenesis through mechanisms such as oxidative stress modulation, stimulation of thyroid stem cell proliferation, and alterations in the tumor microenvironment. Instead, androgens and androgen receptor (AR) signaling would exhibit dual roles in TC. AR downregulation in thyroid tissues is associated with increased tumor progression, whereas AR overexpression has demonstrated protective effects. These include inhibition of epithelial-to-mesenchymal transition, suppression of cell proliferation, downregulation of PD-L1 expression, and suppression of oncogenic microRNAs such as miR-146b. Conversely, androgens can promote tumor aggressiveness and metastasis in certain contexts, such as through VEGFC/VEGFR-3 signaling when a specific androgen-regulated gene is overexpressed. This review is aimed at summarizing the recent evidence coming from the literature data regarding both in vitro and in vivo studies on animal models investigating the multifaceted roles of sex hormones in TC, highlighting the critical need for new prospective longitudinal studies, also in view of gender-affirming hormones therapy. Such research will enhance our understanding of hormonal influences across diverse populations and further explain the relationship between sexual dimorphism and TC pathogenesis.</p>","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143805177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The genetic changes in 11p15.5-related pheochromocytomas and paragangliomas.","authors":"Pavla Jenčová, Tatiana Vosecká, Lucie Štolová, Marie Rychlá, Dagmar Voříšková, Tomáš Zelinka, Zdeněk Musil, Anasuya Guha, Jaroslava Dušková, Petr Brož, Ales Vicha","doi":"10.1530/ERC-24-0330","DOIUrl":"10.1530/ERC-24-0330","url":null,"abstract":"<p><p>Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors. The development of these tumors is associated with more than 20 genes. The aforementioned genes are subdivided into three clusters. The pseudohypoxic, kinase-signaling and Wnt clusters. The pseudohypoxic cluster is the only one that has been demonstrated to be associated with DNA methylation changes, including alterations in the 11p15.5 region. The objective of this study was to identify alterations in the 11p15.5 region, ascertain their prevalence in PPGLs, and subsequently compare them with the genomic and somatic mutations that cluster PPGLs. One hundred and fifty tumor samples were subjected to analysis. A total of 90 cases (60%) exhibited no alterations in the 11p15.5 region. The most prevalent alterations were maternal allele loss, observed in 45 cases (30%), pUPD (paternal uniparental disomy) in five cases (3.33%), and paternal allele gain in four cases (2.67%). The data presented here suggest that two mechanisms may be involved in the formation of PPGLs. These are reduced expression of CDKN1C (maternal allele deletion) and overexpression of IGF2 (pUPD, paternal allele gain). A statistically significant difference was observed in the frequency of alterations in the 11p15.5 region when comparing cluster 1 and cluster 2 (P-value <0.0001). This study is the first to describe pUPD and paternal allele gain as somatic alterations in PPGLs. In addition, our findings indicate that alterations in the 11p15.5 region are not exclusive to cluster 1. Consequently, the alterations in the 11p15.5 region cannot be regarded as a marker for cluster 1.</p>","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic testing for RET in the clinic: UK and global perspective.","authors":"Louise Izatt","doi":"10.1530/ERC-24-0230","DOIUrl":"10.1530/ERC-24-0230","url":null,"abstract":"<p><strong>Graphical abstract: </strong></p><p><strong>Abstract: </strong>RET is a key oncogene in neuroendocrine cancer. Pathogenic germline variants lead to multiple different phenotypes, including multiple endocrine neoplasia type 2, medullary thyroid cancer (MTC), Hirschsprung disease and kidney malformations. Pathogenic somatic variants are also associated with MTC, and RET rearrangements are observed in papillary thyroid cancer, non-small cell lung cancer and pan-cancer syndromes. Testing for both germline and somatic variants is now feasible in everyday clinical practice, and their identification has important clinical consequences, both for affected individuals and their families. This mini-review will discuss current germline and somatic testing strategies in the UK and worldwide, as well as reporting and test outcomes (including variants of uncertain significance or incidental findings). It will explore actions following identification of a pathogenic germline variant, including predictive, reproductive and childhood testing, and somatic testing of RET variants in solid tumours informing personalised cancer treatment. Finally, it will discuss the challenge of delivering rapid and equitable access to genomic testing to ensure that all individuals can benefit promptly and appropriately to improve clinical outcomes.</p>","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of patients with small pancreatic neuroendocrine tumors from a biomarker and surgical perspective.","authors":"Anna Vera D Verschuur, Lin Chen, Els J Nieveen van Dijkum, Claudio Luchini, Thorvardur R Halfdanarson, Seung-Mo Hong, Aatur D Singhi, Lodewijk A A Brosens, Christopher M Heaphy","doi":"10.1530/ERC-24-0305","DOIUrl":"10.1530/ERC-24-0305","url":null,"abstract":"<p><p>Pancreatic neuroendocrine tumors (PanNETs) have an age-adjusted incidence of 1.5 per 100,000 people, with a notable rise in the incidence of small (≤2 cm) non-functional PanNETs (NF-PanNETs) in recent decades. While surgery is traditionally the preferred treatment for localized NF-PanNETs, active surveillance is now an accepted management strategy for tumors smaller than 2 cm due to their relatively benign behavior. However, this approach has not yet been fully integrated into routine clinical practice. There is considerable histopathological heterogeneity observed in NF-PanNETs, which results in significant variability in clinical presentation, behavior and treatment outcomes. Hence, tumor size alone does not provide sufficient certainty regarding a benign clinical course for decision-making. Although studies advocate for incorporating WHO grade into clinical prognostic assessments, this marker also has limitations. Several established tissue-based markers, such as ATRX and DAXX alterations, alternative lengthening of telomeres, and copy number variations, can be used for PanNET subtyping and correlate with metastatic risk. Combining these markers with traditional histopathological parameters may yield a more comprehensive and accurate prognostic assessment. This review discusses the advantages and limitations of current prognostication methods for small NF-PanNETs and highlights recently established prognostic markers, along with the requirements for their implementation into routine clinical practice. It also proposes practical solutions to address the challenges associated with the immediate integration of these biomarkers into routine care.</p>","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11997717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of prognostic factors in advanced pediatric ACC.","authors":"Maria Riedmeier, Shipra Agarwal, Sonir R R Antonini, Saniye Ekinci, Martin Fassnacht, Bonald Cavalcante Figueiredo, Christoph Härtel, Jagdish Prasad Meena, Stephen D Marks, Jessica Munarin, Soraya Puglisi, Gerdi Tuli, Bilgehan Yalcin, Paul G Schlegel, Armin Wiegering, Verena Wiegering","doi":"10.1530/ERC-24-0135","DOIUrl":"10.1530/ERC-24-0135","url":null,"abstract":"<p><p>Therapeutic options of advanced pediatric adrenocortical carcinoma (pACC) are limited, and achieving valuable risk stratification remains challenging. We refined the value of prognostic factors with an emphasis on resection status. Retrospective international data from 106 patients with advanced pACC from various collaborating centers of the international pACC working groups ENSAT-PACT, IC-PACT and/or from individual international collaboration diagnosed were collected. One hundred six patients aged 0.1-18.1 (median 7.6) years were diagnosed with pACC, with 42 tumor stage III and 64 stage IV, respectively. Eighty percent (85/106) of the tumors were hormone-producing, with a mean Ki67 index for both stage groups of 29%. Patient survival was 45% (48/106) with a mean follow-up of 17.7 months. Higher age, tumor stage IV and increased Ki67 index worsened the prognosis on overall survival. Resection status had an essential impact on survival, as the patients with R0 resection (n = 32) had a better overall survival (71% for stage III patients; 80% for stage IV patients) than patients with R1 (n = 24) (45% for stage III; 69% for stage IV), R2 (n = 33) (17% for stage III; 15% for stage IV) and Rx (n = 7) (0% for stage III; 17% for stage IV). Of the ten patients with tumor spillage, only a few (57% of stage III; 0% of stage IV patients) survived. The resection status has a significant impact on overall survival in pACC. Therefore, tumor surgery should only be undertaken by experienced surgeons proficient in adrenalectomy and oncology, ideally within specialized pediatric oncological centers with a multidisciplinary team setting.</p>","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143694936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inflammation-based score in pediatric adrenocortical carcinoma.","authors":"Maria Riedmeier, Jan Idkowiak, Heidi Frey, Sonir R R Antonini, Gabriela Fernandes Luiz Canali, Carl Friedrich Classen, Nerea Domínguez-Pinilla, Martin Fassnacht, Steffen Fuchs, Christoph Härtel, Dominika Janús, Ronald de Krijger, Tezer Kutluk, Ngoc Lan Bui, Jagdish Prasad Meena, Mouna Mezoued, Jessica Munarin, Max M van Noesel, Nihal Özdemir Köse, Simon H Pearce, Thomas Perwein, Soraya Puglisi, Jaydira Del Rivero, Paul G Schlegel, Irene Schmid, Gerdi Tuli, Justyna Walenciak, Bilgehan Yalcin, Verena Wiegering","doi":"10.1530/ERC-24-0244","DOIUrl":"10.1530/ERC-24-0244","url":null,"abstract":"<p><p>Inflammation-based scores have been demonstrated to be independent prognostic factors in predicting outcomes in adult adrenocortical carcinoma (ACC). We aimed to investigate the prognostic role of these scores in pediatric adrenocortical carcinoma (pACC) patients. An international multicenter analysis was conducted on a pediatric cohort from 21 ACC centers. Pretreatment inflammation-based scoring parameters, including neutrophil-to-lymphocyte ratio (NLR), derived neutrophil-to-lymphocyte ratio (dNLR), platelet-to-lymphocyte ratio (PLR), monocyte-to-lymphocyte ratio (MLR) and serum albumin, as well as clinical parameters, were analyzed. The primary endpoint was 10-year overall survival (OS). One hundred twenty-nine pediatric patients (50.4% females, mean age 87 months) across all tumor stages with a median follow-up of 36 months were included. 107/108 patients underwent primary surgery, and 62/106 received systemic treatment at the time of diagnosis. Of 102 patients, 27 died from disease. In the univariable analysis, NLR ≥5 (HR 8.0, 95% CI 3.4-19.1), MLR ≥0.28 (HR 4.2, 95% CI 1.7-10.4), PLR ≥190 (HR 4.5, 95% CI 2.0-10.4) and dNLR ≥1.44 (HR 5.9, 95% CI 2.3-15.5), as well as clinical parameters age ≥4 years (HR 5.5, 95% CI 1.9-15.8), tumor stage IV (HR 5.7, 95% CI 2.7-11.9) and incomplete resection status (HR 8.0, 95% CI 3.6-17.7) were significantly associated with reduced 10-year OS. After multivariable adjustment, only tumor stage IV (HR 336.7, 95% CI 5.8-19,518.1) and MLR ≥0.28 (HR 247.1, 95% CI = 3.1-19,907.5) were significantly associated with an unfavorable outcome. Inflammation-based scores tend to have prognostic value in pACC and could serve as prognostic tools after further validation in future studies with sufficient case numbers.</p>","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12002726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143660051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Limited value of genetic profiling in guiding radioiodine therapy for metastatic differentiated thyroid cancer.","authors":"Ziyan He, Congcong Wang, Chang Liu, Ke Zhang, Junyao Wang, Xufu Wang, Yifan Zhang, Libo Chen","doi":"10.1530/ERC-24-0298","DOIUrl":"10.1530/ERC-24-0298","url":null,"abstract":"<p><p>Assessing the 131I-avidity of metastatic differentiated thyroid cancer (mDTC) is pivotal to characterizing the nature of disease and optimizing the therapeutic strategy. In this prospective study, the predictive value of genetic profiling of 18 selected thyroid cancer-relevant genes for 131I-avidity and the response to radioiodine therapy (RT) was studied in comparison with those of diagnostic 131I scan. During univariate analysis, BRAF status (odds ratio, (OR) = 12.47, 95% confidence interval (CI): 5.03-30.89, P < 0.001) and TNM-M stage (P = 0.029) were found to be associated with 131I-avidity, but multivariate analysis identified BRAF V600E as the sole independent factor associated with the non-131I-avidity (OR = 12.98, 95% CI: 3.77-44.73, P < 0.001). The predictive values of BRAF wild-type for 131I-avidity and BRAF V600E for non-131I-avidity were 84.6 and 69.4%, respectively, both lower than those of diagnostic 131I scan (positive predictive value of 100%, P = 0.031; negative predictive value of 81.1%, P = 0.219). The predictive value of BRAF V600E for non-131I-avidity was not significantly improved when combined with TERT promoter mutation (76.9 vs 69.4%, P = 0.736). Moreover, the predictive value of BRAF V600E for biochemical non-response was 70.8% (17/24), while no correlation was found between BRAF status and structural response. In contrast, a negative diagnostic 131I scan was significantly associated with both biochemical and structural non-responses, with predictive values of 81 and 100%, respectively. The current study demonstrated that genetic profiling is of limited value in guiding RT for mDTC, while a diagnostic 131I scan proved superior in this respect.</p>","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143660054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}