Pub Date : 2025-01-01DOI: 10.1016/j.beem.2024.101926
Alessio Imperiale (Nuclear Medicine Physician) , Valentina Berti (Nuclear Medicine Physician)
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 (SDH) pathogenic variants on the radiomic profile of 18F-FDG, 18F-DOPA, and 68Ga-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 in vivo predictions of SDH pathogenic variants, thereby encouraging genetic testing, and ultimately improving patient outcomes.
放射组学通过先进的计算技术提供定量分析，补充了传统的定性评估，从而彻底改变了医学成像技术。在这篇叙述性综述中，我们研究了琥珀酸脱氢酶（SDH）致病变体对副神经节瘤18F-FDG、18F-DOPA和68Ga-DOTA-肽正电子发射计算机断层成像的放射组学特征的影响，重点是头颈部定位（HNPGL）。这种影响表现为摄取强度和纹理异质性，揭示了可能反映特定肿瘤行为和突变状态的复杂放射组学景观。通过将放射组学分析与基因数据相结合，我们将获得 PET 成像特征与潜在分子变化之间关系的新见解。未来，我们设想一种将病灶位置、大小和 SUV 等宏观指标与先进的计算机算法相结合的方法。这种综合分析有助于在体内预测 SDH 的致病变异，从而鼓励基因检测，最终改善患者的预后。
{"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}
Pub Date : 2025-01-01DOI: 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)
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.
{"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}
Pub Date : 2025-01-01DOI: 10.1016/j.beem.2024.101938
Charlotte Lussey-Lepoutre , Karel Pacak , Ashley Grossman , David Taieb , Laurence Amar
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 (SDHx) 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 SDHx 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.
{"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}
Pub Date : 2025-01-01DOI: 10.1016/j.beem.2024.101954
Lindsay R. Friedman (Surgical Oncology Research Fellow), Bhavishya Ramamoorthy (Surgical Oncology Research Fellow), Naris Nilubol (Endocrine Surgeon)
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.
{"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}
Pub Date : 2025-01-01DOI: 10.1016/j.beem.2025.101976
Karel Pacak , Svenja Nölting
{"title":"Best practice and research clinical endocrinology and metabolism issue on phaeochromocytomas and paragangliomas","authors":"Karel Pacak , Svenja Nölting","doi":"10.1016/j.beem.2025.101976","DOIUrl":"10.1016/j.beem.2025.101976","url":null,"abstract":"","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101976"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070221","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}
Pub Date : 2025-01-01DOI: 10.1016/j.beem.2024.101922
Felipe Freitas-Castro (Postdoctoral Fellow) , Madson Q. Almeida (Associate Professor)
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 SDHB genetic defects were also more prevalent in Brazilian patients (17 %) with PPGLs when compared with other cohorts (3–9 %). The SDHB exon 1 deletion was responsible for approximately 50 % of the SDHB pathogenic/likely pathogenic variants in Brazilian patients with PPGLs due to a founder effect. The germline SDHB exon 1 deletion represents ∼10 % of the germline drivers in Brazilian patients (and possibly in Latin America). Therefore, a single diagnostic PCR for the SDHB exon 1 deletion might be very useful in clinical practice for genetic testing and counseling of patients with PPGLs in Latin America.
{"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}
Pub Date : 2025-01-01DOI: 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)
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.
免疫疗法代表了癌症治疗的革命性进步，传统的癌症治疗主要集中在 T 细胞上；然而，由于 B 细胞在抗原呈递、抗体产生和细胞因子释放中的作用，它们在癌症免疫疗法中的作用也受到了关注。在本研究中，我们在 MTT 嗜铬细胞瘤小鼠模型中研究了 B 细胞在先前开发的瘤内 MBTA 疗法（甘露聚糖-BAM、TLR 配体和抗 CD40 抗体）中的作用。结果表明，B细胞能显著提高MBTA疗法的成功率，与B细胞缺陷小鼠相比，野生型小鼠的肿瘤发病率更低，肿瘤更小。IL-6和TNF-α水平升高表明B细胞缺陷小鼠存在严重的炎症和潜在的细胞因子风暴。中和 TNF-α 可改善这些并发症，但会导致肿瘤复发。这些结果突显了 B 细胞在 MBTA 治疗过程中增强免疫反应和维持免疫平衡的重要作用。我们的研究结果为改善治疗效果提供了新的见解。
{"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}
Pub Date : 2025-01-01DOI: 10.1016/j.beem.2024.101957
Christina Pamporaki (Endocrinologist) , Ruth T. Casey (Endocrinologist)
Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours which arise from chromaffin cells of the adrenal medulla or extra-adrenal autonomic ganglia. PPGL most commonly present in adulthood but can arise in childhood and adolescence with an estimated annual incidence of 0.5 cases per million children per year. There have been significant advances in the diagnosis and management of PPGL over the past 2–3 decades based largely on the study of adult patients. These advances in clinical knowledge can be applied to paediatric patients but like other cancers, paediatric PPGL must be viewed as a distinct subset with their own specific challenges and opportunities for improved clinical care. This review article provides an overview on the diagnosis and management of PPGL in children focusing on recent international guidance.
{"title":"Current views on paediatric phaeochromocytoma and paraganglioma with a focus on newest guidelines","authors":"Christina Pamporaki (Endocrinologist) , Ruth T. Casey (Endocrinologist)","doi":"10.1016/j.beem.2024.101957","DOIUrl":"10.1016/j.beem.2024.101957","url":null,"abstract":"<div><div>Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours which arise from chromaffin cells of the adrenal medulla or extra-adrenal autonomic ganglia. PPGL most commonly present in adulthood but can arise in childhood and adolescence with an estimated annual incidence of 0.5 cases per million children per year. There have been significant advances in the diagnosis and management of PPGL over the past 2–3 decades based largely on the study of adult patients. These advances in clinical knowledge can be applied to paediatric patients but like other cancers, paediatric PPGL must be viewed as a distinct subset with their own specific challenges and opportunities for improved clinical care. This review article provides an overview on the diagnosis and management of PPGL in children focusing on recent international guidance.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101957"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649974","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}
Pub Date : 2025-01-01DOI: 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)
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.
{"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}
Pub Date : 2024-12-01DOI: 10.1016/j.beem.2024.101939
Emma Boehm , Anthony J. Gill , Roderick Clifton-Bligh , Richard W. Tothill
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 TERT or ATRX are required to drive the metastatic phenotype. Molecular profiling can identify molecular therapeutic (e.g. RET and EPAS1) 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.
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