Nature Reviews Endocrinology最新文献_第3页

Anaplastic thyroid cancer: genomic landscape, molecular drivers and novel therapeutics. 间变性甲状腺癌：基因组景观、分子驱动和新疗法。

IF 39.1 1区医学

Nature Reviews Endocrinology Pub Date : 2026-08-25 DOI: 10.1038/s41574-026-01293-2

Shawn Noronha, Electron Kebebew, Myriem Boufraqech

{"title":"Anaplastic thyroid cancer: genomic landscape, molecular drivers and novel therapeutics.","authors":"Shawn Noronha, Electron Kebebew, Myriem Boufraqech","doi":"10.1038/s41574-026-01293-2","DOIUrl":"https://doi.org/10.1038/s41574-026-01293-2","url":null,"abstract":"Anaplastic thyroid cancer (ATC) is one of the most aggressive human malignancies, defined by rapid progression, early metastasis and resistance to nearly all standard therapies. Although it accounts for less than 2% of thyroid cancers, ATC causes a disproportionate number of thyroid cancer-related deaths, with median overall survival rarely exceeding 10 months. Most patients present with unresectable or metastatic disease, leaving few curative options. The biology of ATC reflects a convergence of diverse oncogenic drivers and profound tumour plasticity. Frequent alterations in MAPK and PI3K pathways, loss of tumour suppressors and epigenetic deregulation fuel uncontrolled proliferation. A hypoxic and inflammatory microenvironment further promotes angiogenesis, immune evasion and metastatic spread. ATC cells also undergo extensive metabolic rewiring, shifting between glycolysis and oxidative phosphorylation to withstand nutrient and therapeutic stress. In parallel, stromal components, including fibroblasts, immune cells and endothelial networks, reinforce invasion and treatment resistance. In this Review, we highlight advances in the understanding of ATC biology, with a focus on driver genetic alterations, metabolic plasticity and microenvironmental interactions that underpin its exceptional aggressiveness. We also discuss how these biological insights provide a rationale for the design of multimodal therapeutic strategies urgently needed to improve outcomes for patients with ATC.","PeriodicalId":18916,"journal":{"name":"Nature Reviews Endocrinology","volume":" ","pages":""},"PeriodicalIF":39.1,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148819087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement. 垂体腺瘤的基因检测：垂体学会国际共识声明。

IF 39.1 1区医学

Nature Reviews Endocrinology Pub Date : 2026-08-25 DOI: 10.1038/s41574-026-01291-4

Sunita M C De Sousa, Cynthia L Andoniadou, Adrian F Daly, Mônica Gadelha, Federico Gatto, Peter Kamenický, Pedro Marques, Martin Reincke, Frederique Ruf-Zamojski, Roberto Salvatori, Yutaka Takahashi, Christina Tatsi, Takako Araki, Sabrina Chiloiro, Laura Dichtel, Adriana G Ioachimescu, Susana Mallea-Gil, Dan A Niculescu, Alberto M Pereira, Ilan Shimon, John Wass, Gabriel Zada, Maria Fleseriu, Shlomo Melmed

{"title":"Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement.","authors":"Sunita M C De Sousa, Cynthia L Andoniadou, Adrian F Daly, Mônica Gadelha, Federico Gatto, Peter Kamenický, Pedro Marques, Martin Reincke, Frederique Ruf-Zamojski, Roberto Salvatori, Yutaka Takahashi, Christina Tatsi, Takako Araki, Sabrina Chiloiro, Laura Dichtel, Adriana G Ioachimescu, Susana Mallea-Gil, Dan A Niculescu, Alberto M Pereira, Ilan Shimon, John Wass, Gabriel Zada, Maria Fleseriu, Shlomo Melmed","doi":"10.1038/s41574-026-01291-4","DOIUrl":"https://doi.org/10.1038/s41574-026-01291-4","url":null,"abstract":"Genetic testing of patients with pituitary adenomas enables delivery of genotype-based precision care. Germline testing might identify variants predisposing to formation of pituitary adenomas and, potentially, other neoplasms. These include loss-of-function variants in AIP, MEN1, CDKN1B, PRKAR1A, SDHA, SDHB, SDHC, SDHD and MAX; GPR101-containing Xq26.3 microduplications; and postzygotic gain-of-function GNAS variants. Somatic testing might help identify and manage aggressive pituitary adenoma types and very rarely encountered pituitary carcinomas. This Pituitary Society Consensus Statement provides evidence-based guidance on the clinical application of these genetic tests, focusing on germline genetic testing, with recommendations regarding genes for inclusion in panel testing, test indications, pre-test counselling, test methodologies, and the interpretation and follow-up of results. As somatic genetic testing is gradually becoming available in clinical practice, recommendations are provided regarding clinical scenarios in which somatic testing might be considered and which genes to test. The consensus group concluded that genetic testing is an increasingly valuable adjunct in the assessment and management of people with pituitary adenomas. When indicated, genetic testing should ideally be undertaken within a multidisciplinary team comprising endocrine, genetic and laboratory expertise to ensure high-quality testing and safe and effective result interpretation and follow-up.","PeriodicalId":18916,"journal":{"name":"Nature Reviews Endocrinology","volume":" ","pages":""},"PeriodicalIF":39.1,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148819074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Diagnosis of hypochondroplasia: international Delphi consensus recommendations. 软骨发育不全的诊断：国际德尔菲共识建议。

IF 39.1 1区医学

Nature Reviews Endocrinology Pub Date : 2026-08-20 DOI: 10.1038/s41574-026-01296-z

Andrew Dauber, Moira S Cheung, Julie Hoover-Fong, Svein Otto Fredwall, Moeenaldeen AlSayed, Silvio Boero, Alistair D Calder, Valérie Cormier-Daire, Virginia Fano, Takuo Kubota, Philip Kunkel, Juan Llerena Junior, Mohamad Maghnie, Geert Mortier, Noriyuki Namba, Amaka C Offiah, Keita Okada, Sérgio B Sousa, Ravi Savarirayan

{"title":"Diagnosis of hypochondroplasia: international Delphi consensus recommendations.","authors":"Andrew Dauber, Moira S Cheung, Julie Hoover-Fong, Svein Otto Fredwall, Moeenaldeen AlSayed, Silvio Boero, Alistair D Calder, Valérie Cormier-Daire, Virginia Fano, Takuo Kubota, Philip Kunkel, Juan Llerena Junior, Mohamad Maghnie, Geert Mortier, Noriyuki Namba, Amaka C Offiah, Keita Okada, Sérgio B Sousa, Ravi Savarirayan","doi":"10.1038/s41574-026-01296-z","DOIUrl":"https://doi.org/10.1038/s41574-026-01296-z","url":null,"abstract":"Hypochondroplasia is a skeletal dysplasia caused by pathogenic variants in FGFR3 and characterized by disproportionate short stature and relative macrocephaly. Diagnostic uncertainty remains common, particularly in early childhood and in individuals with mild or atypical presentations, leading to delayed diagnosis, inconsistent management, and challenges in counselling and care planning. Individuals can be affected by medical complications and psychosocial consequences and have unmet needs for multidisciplinary care. To address these unmet needs, an international, multidisciplinary panel of experts and patient representatives convened to develop consensus-based diagnostic recommendations using a modified two-stage Delphi approach, with a predefined consensus threshold of 70% of respondents rating statements ≥70 (on a scale of 0 to 100). The panel integrated clinical, anthropometric, radiographic, neuroimaging and genetic criteria to define diagnostic categories that can be applied across diverse health-care settings globally. Major and minor diagnostic criteria are proposed, alongside guidance on the appropriate use of molecular testing, radiographic evaluation and brain magnetic resonance imaging. These recommendations provide a practical framework to help standardize timely and accurate diagnosis of hypochondroplasia in clinical practice and research.","PeriodicalId":18916,"journal":{"name":"Nature Reviews Endocrinology","volume":" ","pages":""},"PeriodicalIF":39.1,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148795924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Appetite-suppressing effects of GIPR agonism and antagonism work through different brain regions 食欲抑制作用的GIPR激动和拮抗作用通过不同的大脑区域。

IF 39.1 1区医学

Nature Reviews Endocrinology Pub Date : 2026-08-19 DOI: 10.1038/s41574-026-01298-x

Olivia Tysoe

引用次数: 0

Endocannabinoids and related lipids in host metabolism-gut microbiome signalling. 内源性大麻素和相关脂质在宿主代谢-肠道微生物组信号传导中的作用。

IF 39.1 1区医学

Nature Reviews Endocrinology Pub Date : 2026-08-18 DOI: 10.1038/s41574-026-01289-y

Cristoforo Silvestri, Vincenzo Di Marzo

{"title":"Endocannabinoids and related lipids in host metabolism-gut microbiome signalling.","authors":"Cristoforo Silvestri, Vincenzo Di Marzo","doi":"10.1038/s41574-026-01289-y","DOIUrl":"https://doi.org/10.1038/s41574-026-01289-y","url":null,"abstract":"Over the past two decades, it has become clear that the two endocannabinoids, anandamide and 2-arachidonoyl-glycerol, are only the tip of an iceberg of a larger signalling system composed of hundreds of chemically similar fatty acid derivatives, including 2-monoacylglycerols, N-acylethanolamines and other N-acylamines. Unlike the endocannabinoids, these lipids only seldom bind the two cannabinoid receptors, of which CB1 is now recognized as a major player in both the central and peripheral control of energy metabolism. They modulate instead the activity of other G-protein-coupled receptors, as well as of ligand-activated ion channels and nuclear receptors, which also regulate energy intake, accumulation and expenditure. Bacteria inhabiting the gut as part of the intestinal microbiome also produce endocannabinoid-like molecules capable of activating host receptors in vitro. These discoveries led to current research into potential bi-directional communication between this 'extended endocannabinoid system', or endocannabinoidome, and the gut microbiome. Ongoing studies are investigating how this axis might control energy metabolism, particularly in response to diet.","PeriodicalId":18916,"journal":{"name":"Nature Reviews Endocrinology","volume":" ","pages":""},"PeriodicalIF":39.1,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148795872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

mRNA-LNP therapeutics for obesity: weight loss with metabolic repair mRNA-LNP治疗肥胖：代谢修复减肥。

IF 39.1 1区医学

Nature Reviews Endocrinology Pub Date : 2026-08-14 DOI: 10.1038/s41574-026-01297-y

Jun Liao, Lukas Farbiak, Daniel J. Siegwart, Chuang Liu

引用次数: 0

Leadership for the postdoctoral to independent investigator transition 领导博士后向独立研究者的转变。

IF 39.1 1区医学

Nature Reviews Endocrinology Pub Date : 2026-08-13 DOI: 10.1038/s41574-026-01294-1

Leonardo V. M. de Assis, Richard M. Blay, Madilyn Coles, Taylah L. Gaynor, Mathilde Palmier, Aswathi Surendran, Elpida Vounzoulaki, Ingrid M. Wagnon, Thilo S. Chillon

引用次数: 0

Therapeutic potential of targeting the orexin (hypocretin) system in sleep disorders. 针对食欲素（下丘脑分泌素）系统治疗睡眠障碍的潜力。

IF 39.1 1区医学

Nature Reviews Endocrinology Pub Date : 2026-07-30 DOI: 10.1038/s41574-026-01277-2

Birgitte R Kornum, Alberte Wollesen Breum, Zuzanna Mincikiewicz, Stine Knudsen-Heier

引用次数: 0

Links between bone fractures and the gut microbiota. 骨折和肠道菌群之间的联系。

IF 39.1 1区医学

Nature Reviews Endocrinology Pub Date : 2026-07-30 DOI: 10.1038/s41574-026-01286-1

Claes Ohlsson, Lina Lawenius, Louise Grahnemo, Klara Sjögren

引用次数: 0

Paracrine signalling in thermogenesis 产热过程中的旁分泌信号。

IF 39.1 1区医学

Nature Reviews Endocrinology Pub Date : 2026-07-30 DOI: 10.1038/s41574-026-01292-3

Claire Greenhill

引用次数: 0