Pub Date : 2024-02-01Epub Date: 2023-11-28DOI: 10.1007/s11154-023-09857-7
Erika Abelleira, Fernando Jerkovich
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.
{"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}
Pub Date : 2024-02-01Epub Date: 2023-06-29DOI: 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
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.
放射性碘(RAI)难治性分化型甲状腺癌是一种不常见且具有挑战性的情况,需要多学科的治疗策略。在专科中心,RAI难治性的定义通常很明确。然而,开始使用多激酶抑制剂(MKI)的合适时机、基因组检测的时间和可用性,以及开具多激酶抑制剂和选择性激酶抑制剂处方的可能性,在全球范围内存在差异:拉丁美洲(LA)是指横跨北美(包括中美洲和加勒比海地区)和南美洲两个地区的世界领土,占世界人口的 8.5%。在本手稿中,我们对目前推荐用于 RAI 难治性分化型甲状腺癌患者的标准治疗方法进行了严格审查,并强调了拉丁美洲所面临的挑战。为了实现这一目标,拉丁美洲甲状腺学会(LATS)召集了一个由来自巴西、阿根廷、智利和哥伦比亚的专家组成的小组。在所有拉美国家,获得 MKI 复合物仍然是一项挑战。这不仅适用于 MKI,也适用于新的选择性酪氨酸激酶抑制剂。因此,随着精准医疗的发展,巨大的差距将更加明显,尽管努力提高覆盖率和报销比例,但大多数洛杉矶人口仍无法获得基于分子的精准医疗。应努力缓解目前对 RAI 难治性分化型甲状腺癌的最先进治疗方法与拉丁美洲现状之间的差异。
{"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}
Pub Date : 2024-02-01Epub Date: 2023-09-25DOI: 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
Background: 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.
Methods: 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.
Results: 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.
Discussion: 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.
{"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}
Pub Date : 2024-02-01Epub Date: 2023-07-12DOI: 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
Background: 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.
Methods: 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.
Results: Seventeen studies were included in the systematic review. Radiomics and ML were applied for assessment of thyroid incidentalomas at 18 F-FDG PET, evaluation of cytologically indeterminate thyroid nodules, assessment of thyroid cancer and classification of thyroid diseases using nuclear medicine techniques.
Conclusion: 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.
背景:近年来,越来越多的证据表明,放射组学和机器学习(ML)应用于不同的核医学成像模式,在评估甲状腺疾病方面发挥了作用。因此,本系统性综述旨在分析这些技术在这种情况下的诊断性能:方法:对 PubMed/MEDLINE、Scopus 和 Web of Science 数据库进行了广泛的文献检索,以找到有关放射组学或 ML 在核医学成像中评估不同甲状腺疾病的作用的已发表文章:结果:17 项研究被纳入系统综述。结果:17 项研究被纳入系统综述,放射组学和 ML 被应用于 18 F-FDG PET 评估甲状腺偶发瘤、评估细胞学不确定的甲状腺结节、评估甲状腺癌以及使用核医学技术对甲状腺疾病进行分类:尽管放射组学和ML的一些固有局限性可能会影响本综述的结果,但这些技术在评估甲状腺疾病方面似乎大有可为。要将放射组学和ML方法应用于临床,还需要在多中心研究中对初步结果进行验证。
{"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}
Pub Date : 2024-02-01Epub Date: 2023-10-30DOI: 10.1007/s11154-023-09842-0
Carolina Ferraz
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.
{"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}
Pub Date : 2024-02-01Epub Date: 2023-12-02DOI: 10.1007/s11154-023-09859-5
Fabian Pitoia, Pierpaolo Trimboli
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.
{"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}
Pub Date : 2024-02-01Epub Date: 2023-10-24DOI: 10.1007/s11154-023-09840-2
Maria Sharmila Alina de Sousa, Isabela Nogueira Nunes, Yasmin Paz Christiano, Luiza Sisdelli, Janete Maria Cerutti
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.
{"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}
Pub Date : 2024-02-01Epub Date: 2023-10-27DOI: 10.1007/s11154-023-09846-w
Victor Alexandre Dos Santos Valsecchi, Felipe Rodrigues Betoni, Laura Sterian Ward, Lucas Leite Cunha
The recent incorporation of immune checkpoint inhibitors targeting the PD-1 (programmed cell death receptor 1) and CTLA-4 (cytotoxic T lymphocyte antigen 4) pathways into the therapeutic armamentarium of cancer has increased the need to understand the correlation between the immune system, autoimmunity, and malignant neoplasms. Both autoimmune thyroid diseases and thyroid cancer are common clinical conditions. The molecular pathology of autoimmune thyroid diseases is characterized by the important impact of the PD-1/PD-L1 axis, an important inhibitory pathway involved in the regulation of T-cell responses. Insufficient inhibitory pathways may prone the thyroid tissue to a self-destructive immune response that leads to hypothyroidism. On the other hand, the PD-1/PD-L1 axis and other co-inhibitory pathways are the cornerstones of the immune escape mechanisms in thyroid cancer, which is a mechanism through which the immune response fails to recognize and eradicate thyroid tumor cells. This common mechanism raises the idea that thyroid autoimmunity and thyroid cancer may be opposite sides of the same coin, meaning that both conditions share similar molecular signatures. When associated with thyroid autoimmunity, thyroid cancer may have a less aggressive presentation, even though the molecular explanation of this clinical consequence is unclear. More studies are warranted to elucidate the molecular link between thyroid autoimmune disease and thyroid cancer. The prognostic impact that thyroid autoimmune disease, especially chronic lymphocytic thyroiditis, may exert on thyroid cancer raises important insights that can help physicians to better individualize the management of patients with thyroid cancer.
{"title":"Clinical and molecular impact of concurrent thyroid autoimmune disease and thyroid cancer: From the bench to bedside.","authors":"Victor Alexandre Dos Santos Valsecchi, Felipe Rodrigues Betoni, Laura Sterian Ward, Lucas Leite Cunha","doi":"10.1007/s11154-023-09846-w","DOIUrl":"10.1007/s11154-023-09846-w","url":null,"abstract":"<p><p>The recent incorporation of immune checkpoint inhibitors targeting the PD-1 (programmed cell death receptor 1) and CTLA-4 (cytotoxic T lymphocyte antigen 4) pathways into the therapeutic armamentarium of cancer has increased the need to understand the correlation between the immune system, autoimmunity, and malignant neoplasms. Both autoimmune thyroid diseases and thyroid cancer are common clinical conditions. The molecular pathology of autoimmune thyroid diseases is characterized by the important impact of the PD-1/PD-L1 axis, an important inhibitory pathway involved in the regulation of T-cell responses. Insufficient inhibitory pathways may prone the thyroid tissue to a self-destructive immune response that leads to hypothyroidism. On the other hand, the PD-1/PD-L1 axis and other co-inhibitory pathways are the cornerstones of the immune escape mechanisms in thyroid cancer, which is a mechanism through which the immune response fails to recognize and eradicate thyroid tumor cells. This common mechanism raises the idea that thyroid autoimmunity and thyroid cancer may be opposite sides of the same coin, meaning that both conditions share similar molecular signatures. When associated with thyroid autoimmunity, thyroid cancer may have a less aggressive presentation, even though the molecular explanation of this clinical consequence is unclear. More studies are warranted to elucidate the molecular link between thyroid autoimmune disease and thyroid cancer. The prognostic impact that thyroid autoimmune disease, especially chronic lymphocytic thyroiditis, may exert on thyroid cancer raises important insights that can help physicians to better individualize the management of patients with thyroid cancer.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"5-17"},"PeriodicalIF":6.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54230806","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}
Pub Date : 2024-02-01Epub Date: 2023-11-10DOI: 10.1007/s11154-023-09841-1
Joerg Bojunga, Pierpaolo Trimboli
Ultrasound (US) of the thyroid has been used as a diagnostic tool since the late 1960s. US is the most important imaging tool for diagnosing thyroid disease. In the majority of cases a correct diagnosis can already be made in synopsis of the sonographic together with clinical findings and basal thyroid hormone parameters. However, the characterization of thyroid nodules by US remains challenging. The introduction of Thyroid Imaging Reporting and Data Systems (TIRADSs) has improved diagnostic accuracy of thyroid cancer significantly. Newer techniques such as elastography, superb microvascular imaging (SMI), contrast enhanced ultrasound (CEUS) and multiparametric ultrasound (MPUS) expand diagnostic options and tools further. In addition, the use of artificial intelligence (AI) is a promising tool to improve and simplify diagnostics of thyroid nodules and there is evidence that AI can exceed the performance of humans. Combining different US techniques with the introduction of new software, the use of AI, FNB as well as molecular markers might pave the way for a completely new area of diagnostic accuracy in thyroid disease. Finally, interventional ultrasound using US-guided thermal ablation (TA) procedures are increasingly proposed as therapy options for benign as well as malignant thyroid diseases.
{"title":"Thyroid ultrasound and its ancillary techniques.","authors":"Joerg Bojunga, Pierpaolo Trimboli","doi":"10.1007/s11154-023-09841-1","DOIUrl":"10.1007/s11154-023-09841-1","url":null,"abstract":"<p><p>Ultrasound (US) of the thyroid has been used as a diagnostic tool since the late 1960s. US is the most important imaging tool for diagnosing thyroid disease. In the majority of cases a correct diagnosis can already be made in synopsis of the sonographic together with clinical findings and basal thyroid hormone parameters. However, the characterization of thyroid nodules by US remains challenging. The introduction of Thyroid Imaging Reporting and Data Systems (TIRADSs) has improved diagnostic accuracy of thyroid cancer significantly. Newer techniques such as elastography, superb microvascular imaging (SMI), contrast enhanced ultrasound (CEUS) and multiparametric ultrasound (MPUS) expand diagnostic options and tools further. In addition, the use of artificial intelligence (AI) is a promising tool to improve and simplify diagnostics of thyroid nodules and there is evidence that AI can exceed the performance of humans. Combining different US techniques with the introduction of new software, the use of AI, FNB as well as molecular markers might pave the way for a completely new area of diagnostic accuracy in thyroid disease. Finally, interventional ultrasound using US-guided thermal ablation (TA) procedures are increasingly proposed as therapy options for benign as well as malignant thyroid diseases.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"161-173"},"PeriodicalIF":6.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72015150","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}
Pub Date : 2024-02-01Epub Date: 2023-10-12DOI: 10.1007/s11154-023-09839-9
Camilla Virili, Ilaria Stramazzo, Maria Flavia Bagaglini, Anna Lucia Carretti, Silvia Capriello, Francesco Romanelli, Pierpaolo Trimboli, Marco Centanni
In recent years, a growing number of studies have examined the relationship between thyroid pathophysiology and intestinal microbiota composition. The reciprocal influence between these two entities has been proven so extensive that some authors coined the term "gut-thyroid axis". However, since some papers reported conflicting results, several aspects of this correlation need to be clarified. This systematic review was conceived to achieve more robust information about: 1)the characteristics of gut microbiota composition in patients with the more common morphological, functional and autoimmune disorders of the thyroid; 2)the influence of gut microbial composition on micronutrients that are essential for the maintenance of thyroid homeostasis; 3)the effect of probiotics, prebiotics and synbiotics, some of the most popular over-the-counter products, on thyroid balance; 4)the opportunity to use specific dietary advice. The literature evaluation was made by three authors independently. A five steps strategy was a priori adopted. After duplicates removal, 1106 records were initially found and 38 reviews were finally included in the analysis. The systematic reviews of reviews found that: 1) some significant variations characterize the gut microbiota composition in patients with thyroid disorders. However, geographical clustering of most of the studies prevents drawing definitive conclusions on this topic; 2) the available knowledge about the effect of probiotics and synbiotics are not strong enough to suggest the routine use of these compounds in patients with thyroid disorders; 3) specific elimination nutrition should not be routine suggested to patients, which, instead have to be checked for possible micronutrients and vitamins deficiency, often owed to gastrointestinal autoimmune comorbidities.
{"title":"The relationship between thyroid and human-associated microbiota: A systematic review of reviews.","authors":"Camilla Virili, Ilaria Stramazzo, Maria Flavia Bagaglini, Anna Lucia Carretti, Silvia Capriello, Francesco Romanelli, Pierpaolo Trimboli, Marco Centanni","doi":"10.1007/s11154-023-09839-9","DOIUrl":"10.1007/s11154-023-09839-9","url":null,"abstract":"<p><p>In recent years, a growing number of studies have examined the relationship between thyroid pathophysiology and intestinal microbiota composition. The reciprocal influence between these two entities has been proven so extensive that some authors coined the term \"gut-thyroid axis\". However, since some papers reported conflicting results, several aspects of this correlation need to be clarified. This systematic review was conceived to achieve more robust information about: 1)the characteristics of gut microbiota composition in patients with the more common morphological, functional and autoimmune disorders of the thyroid; 2)the influence of gut microbial composition on micronutrients that are essential for the maintenance of thyroid homeostasis; 3)the effect of probiotics, prebiotics and synbiotics, some of the most popular over-the-counter products, on thyroid balance; 4)the opportunity to use specific dietary advice. The literature evaluation was made by three authors independently. A five steps strategy was a priori adopted. After duplicates removal, 1106 records were initially found and 38 reviews were finally included in the analysis. The systematic reviews of reviews found that: 1) some significant variations characterize the gut microbiota composition in patients with thyroid disorders. However, geographical clustering of most of the studies prevents drawing definitive conclusions on this topic; 2) the available knowledge about the effect of probiotics and synbiotics are not strong enough to suggest the routine use of these compounds in patients with thyroid disorders; 3) specific elimination nutrition should not be routine suggested to patients, which, instead have to be checked for possible micronutrients and vitamins deficiency, often owed to gastrointestinal autoimmune comorbidities.</p>","PeriodicalId":21106,"journal":{"name":"Reviews in Endocrine & Metabolic Disorders","volume":" ","pages":"215-237"},"PeriodicalIF":6.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10808578/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41210920","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}