Best practice & research. Clinical endocrinology & metabolism最新文献

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2024.101926

Alessio Imperiale (Nuclear Medicine Physician) , Valentina Berti (Nuclear Medicine Physician)

{"title":"SDH-related head and neck paragangliomas: Unraveling PET radiomics beyond 18F-FDG","authors":"Alessio Imperiale (Nuclear Medicine Physician) , Valentina Berti (Nuclear Medicine Physician)","doi":"10.1016/j.beem.2024.101926","DOIUrl":"10.1016/j.beem.2024.101926","url":null,"abstract":"<div><div>Radiomics revolutionizes medical imaging by providing quantitative analysis that complements traditional qualitative assessments through advanced computational techniques. In this narrative review we have investigated the impact of succinate dehydrogenase (<em>SDH</em>) pathogenic variants on the radiomic profile of <sup>18</sup>F-FDG, <sup>18</sup>F-DOPA, and <sup>68</sup>Ga-DOTA-peptides PET in paragangliomas, focusing on head and neck localizations (HNPGLs). This influence manifests in uptake intensity and textural heterogeneity, revealing a complex radiomic landscape that may reflect specific tumor behaviors and mutation statuses. By combining radiomic analysis with genetic data, we will gain new insights into the relationship between PET imaging features and underlying molecular changes. In the future, we envision an approach integrating macroscopic indices, such as lesion location, size, and SUV, with advanced computer-based algorithms. This comprehensive analysis could facilitate <em>in vivo</em> predictions of <em>SDH</em> pathogenic variants, thereby encouraging genetic testing, and ultimately improving patient outcomes.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101926"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142082832","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

Systemic therapy for patients with metastatic pheochromocytoma and paraganglioma

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2025.101977

Alessa Fischer (Resident Internal Medicine and Endocrinology) , Jaydira del Rivero (Associate Research Physician) , Katharina Wang (Resident Internal Medicine and Endocrinology) , Svenja Nölting (Assistant Professor) , Camilo Jimenez (Professor)

{"title":"Systemic therapy for patients with metastatic pheochromocytoma and paraganglioma","authors":"Alessa Fischer (Resident Internal Medicine and Endocrinology) , Jaydira del Rivero (Associate Research Physician) , Katharina Wang (Resident Internal Medicine and Endocrinology) , Svenja Nölting (Assistant Professor) , Camilo Jimenez (Professor)","doi":"10.1016/j.beem.2025.101977","DOIUrl":"10.1016/j.beem.2025.101977","url":null,"abstract":"<div><div>Pheochromocytomas and paragangliomas are rare neuroendocrine tumors derived from the paraganglia. These tumors frequently secrete excessive amounts of catecholamines leading to cardiovascular and gastrointestinal complications. While all pheochromocytomas and paragangliomas possess the potential for metastasis, actual metastatic occurrences are observed in approximately one third of cases. The metastases primarily affect the lymph nodes, skeletal system, liver, and lungs. Furthermore, patients often experience a reduced overall survival rate attributed to factors such as tumor size, disease advancement, and excessive catecholamine secretion. For several decades, treatment options for patients diagnosed with metastatic pheochromocytomas and paragangliomas have primarily included combination chemotherapy with cyclophosphamide, vincristine, and dacarbazine, along with Iodine-131-metaiodobenzylguanidine. However, significant advancements in scientific research over the past 25 years have enabled a comprehensive characterization of these tumors from biochemical, molecular, and diagnostic standpoints, resulting in the identification of new therapeutic alternatives for affected patients. In the last decade, we have witnessed the introduction of innovative systemic therapies specifically designed for those with metastatic pheochromocytomas and paragangliomas. In this review, we aim to present findings on the efficacy, safety, and overall activity from prospective clinical trials involving radiopharmaceuticals and tyrosine kinase inhibitors, and we will also outline the prospective advantages of additional novel therapies currently under evaluation.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101977"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070222","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

Overview of recent guidelines and consensus statements on initial screening and management of phaeochromocytoma and paraganglioma in SDHx pathogenic variant carriers and patients 关于 SDHx 致病变异携带者和患者中的嗜铬细胞瘤和副神经节瘤的初步筛查和管理的最新指南和共识声明概览

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2024.101938

Charlotte Lussey-Lepoutre , Karel Pacak , Ashley Grossman , David Taieb , Laurence Amar

{"title":"Overview of recent guidelines and consensus statements on initial screening and management of phaeochromocytoma and paraganglioma in SDHx pathogenic variant carriers and patients","authors":"Charlotte Lussey-Lepoutre , Karel Pacak , Ashley Grossman , David Taieb , Laurence Amar","doi":"10.1016/j.beem.2024.101938","DOIUrl":"10.1016/j.beem.2024.101938","url":null,"abstract":"<div><div>Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours with a strong genetic predisposition, involving over 20 genes and with germline pathogenic variants identified in 40 % of cases. The succinate dehydrogenase (<em>SDHx</em>) genes are the most commonly implicated in hereditary PPGLs, accounting for 20 % of cases, and present unique diagnostic and treatment challenges due to their potential for multiple, recurrent, and aggressive manifestations, often necessitating lifelong follow-up. Over the past two decades, advances in biochemical and imaging assessments, management, and follow-up protocols have significantly improved care for both adult and paediatric patients. These advances include next-generation sequencing, new biochemical tests, cluster-specific functional imaging, and improved surgical and radiotherapy techniques, such as stereotactic surgery and peptide receptor radionuclide therapy (PRRT). International consensus guidelines have been developed to standardise the management of patients with <em>SDHx</em> pathogenic variants, emphasising multidisciplinary approaches and frequent tumour board discussions. These guidelines, summarised below, cover recommendations for initial genetic testing, tumour screening, follow-up care, and management of patients and asymptomatic carriers.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101938"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142267231","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

Progress in surgical approaches and outcomes of patients with pheochromocytoma and paraganglioma 嗜铬细胞瘤和副神经节瘤患者的手术方法和疗效进展。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2024.101954

Lindsay R. Friedman (Surgical Oncology Research Fellow), Bhavishya Ramamoorthy (Surgical Oncology Research Fellow), Naris Nilubol (Endocrine Surgeon)

{"title":"Progress in surgical approaches and outcomes of patients with pheochromocytoma and paraganglioma","authors":"Lindsay R. Friedman (Surgical Oncology Research Fellow), Bhavishya Ramamoorthy (Surgical Oncology Research Fellow), Naris Nilubol (Endocrine Surgeon)","doi":"10.1016/j.beem.2024.101954","DOIUrl":"10.1016/j.beem.2024.101954","url":null,"abstract":"<div><div>Significant advances have been made in the past few decades in surgical management and outcomes of patients with pheochromocytoma and paraganglioma. Improvements in preoperative hypertensive control with the implementation of alpha- and beta-adrenergic blockade has resulted in better intra-operative blood pressure control and less incidence of hypertensive crises, which had been a large source of morbidity in the past. Emphasis on anesthesia and surgical team communication has also assisted in minimizing intraoperative hypertensive events at critical points of the operation. Shifting away from open resection, the now standard-of-care laparoscopic and minimally invasive adrenalectomy offers less pain, shorter hospitalizations, and quicker recoveries. Patient underlying germline mutations can guide the timing, approach, and extent of surgery. Postoperative outcomes have significantly improved with recent advancements in perioperative care in addition to regimented biochemical and radiographic surveillance. Here, we highlight the recent advancements in surgical approaches and outcomes for patients with pheochromocytoma and paraganglioma.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101954"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142376433","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

Best practice and research clinical endocrinology and metabolism issue on phaeochromocytomas and paragangliomas

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2025.101976

Karel Pacak , Svenja Nölting

引用次数: 0

Personalized management for phaeochromocytomas and paragangliomas in Latin America: A genetic perspective 拉丁美洲嗜铬细胞瘤和副神经节瘤的个性化治疗：遗传学视角。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2024.101922

Felipe Freitas-Castro (Postdoctoral Fellow) , Madson Q. Almeida (Associate Professor)

{"title":"Personalized management for phaeochromocytomas and paragangliomas in Latin America: A genetic perspective","authors":"Felipe Freitas-Castro (Postdoctoral Fellow) , Madson Q. Almeida (Associate Professor)","doi":"10.1016/j.beem.2024.101922","DOIUrl":"10.1016/j.beem.2024.101922","url":null,"abstract":"<div><div>Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with clinical heterogeneity and a high association with hereditary disease, affecting approximately 30 % of the cases. Differences in the presentation and genetic etiologies of PPGLs have been demonstrated between Chinese and European patients. The frequency of germline genetic diagnosis was remarkably higher in Brazilian patients (∼50 %) compared with other cohorts (Chinese 21 %, European 31 %, and The Cancer Genome Atlas Program cohort 27 %). Interestingly, germline <em>SDHB</em> genetic defects were also more prevalent in Brazilian patients (17 %) with PPGLs when compared with other cohorts (3–9 %). The <em>SDHB</em> exon 1 deletion was responsible for approximately 50 % of the <em>SDHB</em> pathogenic/likely pathogenic variants in Brazilian patients with PPGLs due to a founder effect. The germline <em>SDHB</em> exon 1 deletion represents ∼10 % of the germline drivers in Brazilian patients (and possibly in Latin America). Therefore, a single diagnostic PCR for the <em>SDHB</em> exon 1 deletion might be very useful in clinical practice for genetic testing and counseling of patients with PPGLs in Latin America.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101922"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147066","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

Role of B cells in intratumoral MBTA immunotherapy of murine pheochromocytoma model B 细胞在小鼠嗜铬细胞瘤模型瘤内 MBTA 免疫疗法中的作用

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2024.101941

Ondrej Uher (Postdoctoral Fellow) , Katerina Hadrava Vanova (Postdoctoral Fellow) , Katerina Petrlakova (PhD Candidate) , Rachael Labitt (Attending Veterinarian) , Radka Lencova (PhD Candidate) , Andrea Frejlachova (PhD Candidate) , Juan Ye (Postdoctoral Fellow) , Herui Wang (Staff Scientist) , Michal Masarik (Senior Investigator) , Jan Zenka (Senior Investigator) , Zhengping Zhuang (Senior Investigator) , Karel Pacak (Senior Investigator)

{"title":"Role of B cells in intratumoral MBTA immunotherapy of murine pheochromocytoma model","authors":"Ondrej Uher (Postdoctoral Fellow) , Katerina Hadrava Vanova (Postdoctoral Fellow) , Katerina Petrlakova (PhD Candidate) , Rachael Labitt (Attending Veterinarian) , Radka Lencova (PhD Candidate) , Andrea Frejlachova (PhD Candidate) , Juan Ye (Postdoctoral Fellow) , Herui Wang (Staff Scientist) , Michal Masarik (Senior Investigator) , Jan Zenka (Senior Investigator) , Zhengping Zhuang (Senior Investigator) , Karel Pacak (Senior Investigator)","doi":"10.1016/j.beem.2024.101941","DOIUrl":"10.1016/j.beem.2024.101941","url":null,"abstract":"<div><div>Immunotherapy represents a revolutionary advancement in cancer treatment, which has traditionally focused on T cells; however, the role of B cells in cancer immunotherapy has gained interest because of their role in antigen presentation, antibody production, and cytokine release. In this study, we examined the role of B cells in previously developed intratumoral MBTA therapy (mannan-BAM, TLR ligands, and anti-CD40 antibody) in murine models of MTT pheochromocytoma. The results indicated that B cells significantly enhance the success of MBTA therapy, with wild-type mice exhibiting a lower tumor incidence and smaller tumors compared with B cell-deficient mice. Increased IL-6 and TNF-alpha levels indicated severe inflammation and a potential cytokine storm in B cell-deficient mice. Neutralization of TNF-alpha ameliorated these complications but resulted in increased tumor recurrence. The results highlight the important role of B cells in enhancing the immune response and maintaining immune homeostasis during MBTA therapy. Our findings offer new insights into improving therapeutic outcomes.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101941"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142267228","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

Current views on paediatric phaeochromocytoma and paraganglioma with a focus on newest guidelines 当前对儿科嗜铬细胞瘤和副神经节瘤的看法，重点是最新指南。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2024.101957

Christina Pamporaki (Endocrinologist) , Ruth T. Casey (Endocrinologist)

引用次数: 0

The current and upcoming era of radiomics in phaeochromocytoma and paraganglioma phaeochromocytoma 和副神经节瘤放射组学的当前和未来时代。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2024.101923

Zbyněk Tüdös (Associate Professor in Radiology) , Lucia Veverková (Consultant in Radiology) , Jan Baxa (Professor in Radiology) , Igor Hartmann (Consultant in Urology) , Filip Čtvrtlík (Associate Professor in Radiology)

{"title":"The current and upcoming era of radiomics in phaeochromocytoma and paraganglioma","authors":"Zbyněk Tüdös (Associate Professor in Radiology) , Lucia Veverková (Consultant in Radiology) , Jan Baxa (Professor in Radiology) , Igor Hartmann (Consultant in Urology) , Filip Čtvrtlík (Associate Professor in Radiology)","doi":"10.1016/j.beem.2024.101923","DOIUrl":"10.1016/j.beem.2024.101923","url":null,"abstract":"<div><div>The topic of the diagnosis of phaeochromocytomas remains highly relevant because of advances in laboratory diagnostics, genetics, and therapeutic options and also the development of imaging methods. Computed tomography still represents an essential tool in clinical practice, especially in incidentally discovered adrenal masses; it allows morphological evaluation, including size, shape, necrosis, and unenhanced attenuation. More advanced post-processing tools to analyse digital images, such as texture analysis and radiomics, are currently being studied. Radiomic features utilise digital image pixels to calculate parameters and relations undetectable by the human eye. On the other hand, the amount of radiomic data requires massive computer capacity. Radiomics, together with machine learning and artificial intelligence in general, has the potential to improve not only the differential diagnosis but also the prediction of complications and therapy outcomes of phaeochromocytomas in the future. Currently, the potential of radiomics and machine learning does not match expectations and awaits its fulfilment.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101923"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127599","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

Recent progress in molecular classification of phaeochromocytoma and paraganglioma 嗜铬细胞瘤和副神经节瘤分子分类的最新进展

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-12-01 DOI: 10.1016/j.beem.2024.101939

Emma Boehm , Anthony J. Gill , Roderick Clifton-Bligh , Richard W. Tothill

{"title":"Recent progress in molecular classification of phaeochromocytoma and paraganglioma","authors":"Emma Boehm , Anthony J. Gill , Roderick Clifton-Bligh , Richard W. Tothill","doi":"10.1016/j.beem.2024.101939","DOIUrl":"10.1016/j.beem.2024.101939","url":null,"abstract":"<div><div>Phaeochromocytomas (PC) and paragangliomas (PG) are neural crest cancers with high heritability. Recent advances in molecular profiling, including multi-omics and single cell genomics has identified up to seven distinct molecular subtypes. These subtypes are defined by mutations involving hypoxia-inducible factors (HIFs), Krebs cycle, kinase and WNT signalling, but are also defined by chromaffin differentiation states. PCPG have a dominant proangiogenic microenvironment linked to HIF pathway activity and are generally considered “immune cold” tumours with a high number of macrophages. PCPG subtypes can indicate increased metastatic risk but secondary mutations in telomere maintenance genes <em>TERT</em> or <em>ATRX</em> are required to drive the metastatic phenotype. Molecular profiling can identify molecular therapeutic (e.g. <em>RET</em> and <em>EPAS1</em>) and radiopharmaceutical targets while also helping to support variant pathogenicity and familial risk. Molecular profiling and subtyping of PCPG therefore confers the possibility of nuanced prognostication and individual treatment stratification but this still requires large-scale prospective validation.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 6","pages":"Article 101939"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142267230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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