Reviews in Endocrine & Metabolic Disorders最新文献

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Epigenetic programming for obesity and noncommunicable disease: From womb to tomb. 肥胖和非传染性疾病的表观遗传编程:从子宫到坟墓。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-04-01 Epub Date: 2023-12-02 DOI: 10.1007/s11154-023-09854-w
Lucas Paulo Jacinto Saavedra, Silvano Piovan, Veridiana Mota Moreira, Gessica Dutra Gonçalves, Anna Rebeka Oliveira Ferreira, Maiara Vanusa Guedes Ribeiro, Maria Natália Chimirri Peres, Douglas Lopes Almeida, Scarlett Rodrigues Raposo, Mariane Carneiro da Silva, Letícia Ferreira Barbosa, Paulo Cezar de Freitas Mathias
{"title":"Epigenetic programming for obesity and noncommunicable disease: From womb to tomb.","authors":"Lucas Paulo Jacinto Saavedra, Silvano Piovan, Veridiana Mota Moreira, Gessica Dutra Gonçalves, Anna Rebeka Oliveira Ferreira, Maiara Vanusa Guedes Ribeiro, Maria Natália Chimirri Peres, Douglas Lopes Almeida, Scarlett Rodrigues Raposo, Mariane Carneiro da Silva, Letícia Ferreira Barbosa, Paulo Cezar de Freitas Mathias","doi":"10.1007/s11154-023-09854-w","DOIUrl":"10.1007/s11154-023-09854-w","url":null,"abstract":"<p><p>Several epidemiological, clinical and experimental studies in recent decades have shown the relationship between exposure to stressors during development and health outcomes later in life. The characterization of these susceptible phases, such as preconception, gestation, lactation and adolescence, and the understanding of factors that influence the risk of an adult individual for developing obesity, metabolic and cardiovascular diseases, is the focus of the DOHaD (Developmental Origins of Health and Disease) research line. In this sense, advancements in molecular biology techniques have contributed significantly to the understanding of the mechanisms underlying the observed phenotypes, their morphological and physiological alterations, having as a main driving factor the epigenetic modifications and their consequent modulation of gene expression. The present narrative review aimed to characterize the different susceptible phases of development and associated epigenetic modifications, and their implication in the development of non-communicable diseases. Additionally, we provide useful insights into interventions during development to counteract or prevent long-term programming for disease susceptibility.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"309-324"},"PeriodicalIF":6.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138470755","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
Efficacy and tolerability of somatostatin analogues according to gender in patients with neuroendocrine tumors. 根据神经内分泌肿瘤患者的性别划分体生长抑素类似物的疗效和耐受性。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-04-01 Epub Date: 2023-12-05 DOI: 10.1007/s11154-023-09858-6
Rosaria M Ruggeri, Irene Aini, Stefano Gay, Erika Maria Grossrubatscher, Camilla Mancini, Maria Grazia Tarsitano, Virginia Zamponi, Andrea M Isidori, Annamaria Colao, Antongiulio Faggiano
{"title":"Efficacy and tolerability of somatostatin analogues according to gender in patients with neuroendocrine tumors.","authors":"Rosaria M Ruggeri, Irene Aini, Stefano Gay, Erika Maria Grossrubatscher, Camilla Mancini, Maria Grazia Tarsitano, Virginia Zamponi, Andrea M Isidori, Annamaria Colao, Antongiulio Faggiano","doi":"10.1007/s11154-023-09858-6","DOIUrl":"10.1007/s11154-023-09858-6","url":null,"abstract":"<p><p>As the incidence of neuroendocrine tumors has been rising, gender differences in epidemiology and clinical behavior have emerged, and interest into a gender-driven management of these tumors has grown with the aim to improve survival and quality of life of these patients. Somatostatin Analogues represent the first line of systemic treatment of both functional and non-functional neuroendocrine tumors, through the expression of somatostatin receptors (SSTRs) in the tumor cells, and proved effective in controlling hormonal hypersecretion and inhibiting tumor growth, improving progression-free survival and overall survival of these patients. Aim of the present review is to investigate any differences by gender in efficacy and safety of SSTS-targeted therapies, that represent the mainstay treatment of neuroendocrine tumors, as they emerge from studies of varying design and intent. Although preclinical studies have provided evidence in favor of differences by gender in tumor expression of SSTR, as well as of the role of sex hormones and related receptors in modulating SSTRs expression and function, the clinical studies conducted so far have not shown substantial differences between males and females in either efficacy or toxicity of SSTR-targeted therapies, even if with sometimes inconsistent results. Moreover, in most studies gender was not a predictor of response to treatment. Studies specifically designed to address this issue are needed to develop gender-specific therapeutic algorithms, improving patients' prognosis and quality of life.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"383-398"},"PeriodicalIF":6.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138488392","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
Association between protein undernutrition and diabetes: Molecular implications in the reduction of insulin secretion. 蛋白质营养不良与糖尿病之间的关系:胰岛素分泌减少的分子意义。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-04-01 Epub Date: 2023-12-04 DOI: 10.1007/s11154-023-09856-8
Thiago Dos Reis Araujo, Bruna Lourençoni Alves, Lohanna Monali Barreto Dos Santos, Luciana Mateus Gonçalves, Everardo Magalhães Carneiro
{"title":"Association between protein undernutrition and diabetes: Molecular implications in the reduction of insulin secretion.","authors":"Thiago Dos Reis Araujo, Bruna Lourençoni Alves, Lohanna Monali Barreto Dos Santos, Luciana Mateus Gonçalves, Everardo Magalhães Carneiro","doi":"10.1007/s11154-023-09856-8","DOIUrl":"10.1007/s11154-023-09856-8","url":null,"abstract":"<p><p>Undernutrition is still a recurring nutritional problem in low and middle-income countries. It is directly associated with the social and economic sphere, but it can also negatively impact the health of the population. In this sense, it is believed that undernourished individuals may be more susceptible to the development of non-communicable diseases, such as diabetes mellitus, throughout life. This hypothesis was postulated and confirmed until today by several studies that demonstrate that experimental models submitted to protein undernutrition present alterations in glycemic homeostasis linked, in part, to the reduction of insulin secretion. Therefore, understanding the changes that lead to a reduction in the secretion of this hormone is essential to prevent the development of diabetes in undernourished individuals. This narrative review aims to describe the main molecular changes already characterized in pancreatic β cells that will contribute to the reduction of insulin secretion in protein undernutrition. So, it will provide new perspectives and targets for postulation and action of therapeutic strategies to improve glycemic homeostasis during this nutritional deficiency.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"259-278"},"PeriodicalIF":6.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478444","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
Dynamic risk assessment in patients with differentiated thyroid cancer. 分化型甲状腺癌患者的动态风险评估。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-02-01 Epub Date: 2023-11-28 DOI: 10.1007/s11154-023-09857-7
Erika Abelleira, Fernando Jerkovich
{"title":"Dynamic risk assessment in patients with differentiated thyroid cancer.","authors":"Erika Abelleira, Fernando Jerkovich","doi":"10.1007/s11154-023-09857-7","DOIUrl":"10.1007/s11154-023-09857-7","url":null,"abstract":"<p><p>The current approach for patients with differentiated thyroid carcinoma should be individualized according to the risk of recurrence, and this stratification could be used to identify the risk of persistent/recurrent disease in three scenarios: preoperatively, immediately postoperatively, and during long-term follow-up. The initial risk of recurrence will tailor the management of the patient in the preoperative and immediate postoperative settings, while the dynamic risk, which considers the responses to treatment, could guide the decision-making process for remnant ablation and long-term management.This review provides a summary of the existing information regarding the dynamic risk of recurrence and recommended management for patients with differentiated thyroid cancer. The application of this approach is essential to avoid unnecessary treatments for most patients who will have a favorable prognosis. On the other hand, it allows specific therapeutic interventions for those patients at high risk of recurrence. In the future, analysis of tumor biology and prospective studies will surely improve the accuracy of recurrence risk prediction.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"79-93"},"PeriodicalIF":6.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138446073","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
Management of radioiodine refractory differentiated thyroid cancer: the Latin American perspective. 放射性碘难治性分化型甲状腺癌的治疗:拉丁美洲视角。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-02-01 Epub Date: 2023-06-29 DOI: 10.1007/s11154-023-09818-0
Fabian Pitoia, Rafael Selbach Scheffel, Ines Califano, Alicia Gauna, Hernán Tala, Fernanda Vaisman, Alejandro Roman Gonzalez, Ana Oliveira Hoff, Ana Luiza Maia
{"title":"Management of radioiodine refractory differentiated thyroid cancer: the Latin American perspective.","authors":"Fabian Pitoia, Rafael Selbach Scheffel, Ines Califano, Alicia Gauna, Hernán Tala, Fernanda Vaisman, Alejandro Roman Gonzalez, Ana Oliveira Hoff, Ana Luiza Maia","doi":"10.1007/s11154-023-09818-0","DOIUrl":"10.1007/s11154-023-09818-0","url":null,"abstract":"<p><p>Radioiodine (RAI) refractory differentiated thyroid cancer is an uncommon and challenging situation that requires a multidisciplinary approach to therapeutic strategies. The definition of RAI-refractoriness is usually a clear situation in specialized centers. However, the right moment for initiation of multikinase inhibitors (MKI), the time and availability for genomic testing, and the possibility of prescribing MKI and selective kinase inhibitors differ worldwide.Latin America (LA) refers to the territories of the world that stretch across two regions: North America (including Central America and the Caribbean) and South America, containing 8.5% of the world's population. In this manuscript, we critically review the current standard approach recommended for patients with RAI refractory differentiated thyroid cancer, emphasizing the challenges faced in LA. To achieve this objective, the Latin American Thyroid Society (LATS) convened a panel of experts from Brazil, Argentina, Chile, and Colombia. Access to MKI compounds continues to be a challenge in all LA countries. This is true not only for MKI but also for the new selective tyrosine kinase inhibitor, which will also require genomic testing, that is not widely available. Thus, as precision medicine advances, significant disparities will be made more evident, and despite efforts to improve coverage and reimbursement, molecular-based precision medicine remains inaccessible to most of the LA population. Efforts should be undertaken to alleviate the discrepancies between the current state-of-the-art care for RAI-refractory differentiated thyroid cancer and the present situation in Latin America.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"109-121"},"PeriodicalIF":6.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10070991","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
Does it work in childhood and adolescence? The predictive role of postoperative/preablative stimulated thyroglobulin levels in paediatric thyroid cancer. A systematic review of the literature. 它在儿童和青少年时期有效吗?术后/术前刺激甲状腺球蛋白水平对儿童甲状腺癌症的预测作用。对文献的系统综述。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-02-01 Epub Date: 2023-09-25 DOI: 10.1007/s11154-023-09835-z
Arnoldo Piccardo, Francesco Fiz, Gianluca Bottoni, Luca Foppiani, Domenico Albano, Francesco Bertagna, Ugo Catrambone, Federica Mariani, Beatrice Sambucco, Michela Massollo, Giorgio Treglia, Pierpaolo Trimboli
{"title":"Does it work in childhood and adolescence? The predictive role of postoperative/preablative stimulated thyroglobulin levels in paediatric thyroid cancer. A systematic review of the literature.","authors":"Arnoldo Piccardo, Francesco Fiz, Gianluca Bottoni, Luca Foppiani, Domenico Albano, Francesco Bertagna, Ugo Catrambone, Federica Mariani, Beatrice Sambucco, Michela Massollo, Giorgio Treglia, Pierpaolo Trimboli","doi":"10.1007/s11154-023-09835-z","DOIUrl":"10.1007/s11154-023-09835-z","url":null,"abstract":"<p><strong>Background: </strong>Thyroglobulin is a well-established disease marker during follow-up in paediatric differentiated thyroid cancer. However, no conclusive data on the role of endogenously stimulated thyroglobulin after thyroidectomy (ptTg) in predicting disease-specific outcomes are available. This review aims to establish the prognostic value of ptTg in children with DTC.</p><p><strong>Methods: </strong>Online medical databases were searched for studies evaluating the association between ptTg and disease-specific outcomes in DTC-affected children. Documents not in English, preclinical studies, other review articles, case reports, and small case series were excluded. The risk of bias was assessed with the QUADAS-2 tool.</p><p><strong>Results: </strong>Twelve studies, analysing 1043 children in total, were included in the review. They all had a retrospective design and were published between 2016 and 2022. Of all patients, 1008 (97%) and 849 (81%) had undergone thyroidectomy and RAI, respectively. Eight studies (756 children) evaluated the correlation between ptTg and disease persistence/relapse: six reported a significant association between these parameters; a specific ptTg cut-off (10-14 ng/ml) was identified at the multivariate analysis in three studies. The remaining four studies assessed the link between ptTg levels and disease extension, with three reporting a correlation between ptTg and lung/nodal metastases.</p><p><strong>Discussion: </strong>ptTg is a readily available and inexpensive parameter, bearing a strong prognostic power in identifying disease persistence, relapse, and the presence of metastases in children affected by DTC.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"53-63"},"PeriodicalIF":6.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41177019","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
Application of radiomics and machine learning to thyroid diseases in nuclear medicine: a systematic review. 放射组学和机器学习在核医学中对甲状腺疾病的应用:系统综述。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-02-01 Epub Date: 2023-07-12 DOI: 10.1007/s11154-023-09822-4
Francesco Dondi, Roberto Gatta, Giorgio Treglia, Arnoldo Piccardo, Domenico Albano, Luca Camoni, Elisa Gatta, Maria Cavadini, Carlo Cappelli, Francesco Bertagna
{"title":"Application of radiomics and machine learning to thyroid diseases in nuclear medicine: a systematic review.","authors":"Francesco Dondi, Roberto Gatta, Giorgio Treglia, Arnoldo Piccardo, Domenico Albano, Luca Camoni, Elisa Gatta, Maria Cavadini, Carlo Cappelli, Francesco Bertagna","doi":"10.1007/s11154-023-09822-4","DOIUrl":"10.1007/s11154-023-09822-4","url":null,"abstract":"<p><strong>Background: </strong>In the last years growing evidences on the role of radiomics and machine learning (ML) applied to different nuclear medicine imaging modalities for the assessment of thyroid diseases are starting to emerge. The aim of this systematic review was therefore to analyze the diagnostic performances of these technologies in this setting.</p><p><strong>Methods: </strong>A wide literature search of the PubMed/MEDLINE, Scopus and Web of Science databases was made in order to find relevant published articles about the role of radiomics or ML on nuclear medicine imaging for the evaluation of different thyroid diseases.</p><p><strong>Results: </strong>Seventeen studies were included in the systematic review. Radiomics and ML were applied for assessment of thyroid incidentalomas at <sup>18</sup> F-FDG PET, evaluation of cytologically indeterminate thyroid nodules, assessment of thyroid cancer and classification of thyroid diseases using nuclear medicine techniques.</p><p><strong>Conclusion: </strong>Despite some intrinsic limitations of radiomics and ML may have affect the results of this review, these technologies seem to have a promising role in the assessment of thyroid diseases. Validation of preliminary findings in multicentric studies is needed to translate radiomics and ML approaches in the clinical setting.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"175-186"},"PeriodicalIF":6.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10808150/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9760997","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
Molecular testing for thyroid nodules: Where are we now? 甲状腺结节的分子检测:我们现在在哪里?
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-02-01 Epub Date: 2023-10-30 DOI: 10.1007/s11154-023-09842-0
Carolina Ferraz
{"title":"Molecular testing for thyroid nodules: Where are we now?","authors":"Carolina Ferraz","doi":"10.1007/s11154-023-09842-0","DOIUrl":"10.1007/s11154-023-09842-0","url":null,"abstract":"<p><p>Approximately 25% of the fine needle aspiration samples (FNAB) of thyroid nodules are classified as \"indeterminate samples\", that means, Bethesda III and IV categories. Until the last decade, most of these cases underwent diagnostic surgery, although only a minority (13-34%) confirmed malignancy postoperatively. In view of this, with the objective of improving the preoperative diagnosis in these cases, the molecular tests emerged, which are validated from the diagnostic point of view, presenting good performance, with good diagnostic accuracy, being able to avoid diagnostic surgeries. With the advancement of knowledge of the role of each of the mutations and gene rearrangements in thyroid oncogenesis, molecular markers have left to play only a diagnostic role and have been gaining more and more space both in defining the prognostic role of the tumor, as well as in the indication of target therapy. Thus, the objective of this review is to show how to use the tool of molecular tests, now commercially available in the world, in the management of indeterminate cytological nodules, assessing the pre-test malignancy risk of the nodule, through clinical, ultrasonographic and cytological characteristics, and decide on the benefit of molecular testing for each patient. In addition, to discuss its new and promising prognostic and therapeutic role in thyroid cancer.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"149-159"},"PeriodicalIF":6.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71413754","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
New insights in thyroid diagnosis and treatment. 甲状腺诊断与治疗的新认识。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-02-01 Epub Date: 2023-12-02 DOI: 10.1007/s11154-023-09859-5
Fabian Pitoia, Pierpaolo Trimboli
{"title":"New insights in thyroid diagnosis and treatment.","authors":"Fabian Pitoia, Pierpaolo Trimboli","doi":"10.1007/s11154-023-09859-5","DOIUrl":"10.1007/s11154-023-09859-5","url":null,"abstract":"<p><p>The prevalence of thyroid disease continues to rise. As a consequence, the research in the thyroid field has significantly increased over time. Thus, clinicians, and endocrinologists first, have to be aware of the important continuous progress achieved, in particular of thyroid cancer, to better manage their patients. This themed issue, titled \"New Insights in Thyroid Diagnosis and Treatment,\" delves deep into contemporary hot topics in thyroid field. These papers included in the present issue are focused on several aspects in this area, such as imaging, molecular analysis, machine learning and radiomics, nuclear medicine, clinical, and laboratory. Seven papers centers around thyroid cancer. Three papers review imaging modalities for thyroid nodule/cancer assessment. Two papers report a comprehensive review of metabolic issues involving thyroid gland. Finally, a large overview about genetics of Graves' disease is reported in another study. Clinicians will find this issue very interesting.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"1-3"},"PeriodicalIF":6.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10808208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138470756","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
Genetic alterations landscape in paediatric thyroid tumours and/or differentiated thyroid cancer: Systematic review. 儿童甲状腺肿瘤和/或分化型甲状腺癌症的基因改变景观:系统综述。
IF 6.9 2区 医学
Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-02-01 Epub Date: 2023-10-24 DOI: 10.1007/s11154-023-09840-2
Maria Sharmila Alina de Sousa, Isabela Nogueira Nunes, Yasmin Paz Christiano, Luiza Sisdelli, Janete Maria Cerutti
{"title":"Genetic alterations landscape in paediatric thyroid tumours and/or differentiated thyroid cancer: Systematic review.","authors":"Maria Sharmila Alina de Sousa, Isabela Nogueira Nunes, Yasmin Paz Christiano, Luiza Sisdelli, Janete Maria Cerutti","doi":"10.1007/s11154-023-09840-2","DOIUrl":"10.1007/s11154-023-09840-2","url":null,"abstract":"<p><p>Differentiated thyroid cancer (DTC) is a rare disease in the paediatric population (≤ 18 years old. at diagnosis). Increasing incidence is reflected by increases in incidence for papillary thyroid carcinoma (PTC) subtypes. Compared to those of adults, despite aggressive presentation, paediatric DTC has an excellent prognosis. As for adult DTC, European and American guidelines recommend individualised management, based on the differences in clinical presentation and genetic findings. Therefore, we conducted a systematic review to identify the epidemiological landscape of all genetic alterations so far investigated in paediatric populations at diagnosis affected by thyroid tumours and/or DTC that have improved and/or informed preventive and/or curative diagnostic and prognostic clinical conduct globally. Fusions involving the gene RET followed by NTRK, ALK and BRAF, were the most prevalent rearrangements found in paediatric PTC. BRAF V600E was found at lower prevalence in paediatric (especially ≤ 10 years old) than in adults PTC. We identified TERT and RAS mutations at very low prevalence in most countries. DICER1 SNVs, while found at higher prevalence in few countries, they were found in both benign and DTC. Although the precise role of DICER1 is not fully understood, it has been hypothesised that additional genetic alterations, similar to that observed for RAS gene, might be required for the malignant transformation of these nodules. Regarding aggressiveness, fusion oncogenes may have a higher growth impact compared with BRAF V600E. We reported the shortcomings of the systematized research and outlined three key recommendations for global authors to improve and inform precision health approaches, glocally.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"35-51"},"PeriodicalIF":6.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49692228","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
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