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

Adolescent primary hyperparathyroidism. 青少年原发性甲状旁腺功能亢进。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-10 DOI: 10.1016/j.beem.2025.101975

Anima Sharma, Saba Samad Memon, Manjiri Karlekar, Tushar Bandgar

{"title":"Adolescent primary hyperparathyroidism.","authors":"Anima Sharma, Saba Samad Memon, Manjiri Karlekar, Tushar Bandgar","doi":"10.1016/j.beem.2025.101975","DOIUrl":"https://doi.org/10.1016/j.beem.2025.101975","url":null,"abstract":"Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care. The clinical presentation is predominantly symptomatic worldwide. Unique manifestations in this age group include rickets, short stature, and slipped capital femoral epiphysis. Genotype-specific differences are evident in the adolescent PHPT characteristics. Diagnostic evaluation requires careful interpretation of biochemical and dual-energy X-ray absorptiometry findings using age and gender-specific reference ranges, with targeted screening for syndrome-associated neoplasms. Surgery remains the cornerstone of management. Current knowledge gaps in their management include treatment protocols for multiple endocrine neoplasia type 1-associated PHPT, the efficacy and safety of nonsurgical options, and long-term post-surgical outcomes.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101975"},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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 & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 Epub Date: 2024-08-23 DOI: 10.1016/j.beem.2024.101926

Alessio Imperiale, Valentina Berti

引用次数: 0

Systemic therapy for patients with metastatic pheochromocytoma and paraganglioma.

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 Epub Date: 2025-01-22 DOI: 10.1016/j.beem.2025.101977

Alessa Fischer, Jaydira Del Rivero, Katharina Wang, Svenja Nölting, Camilo Jimenez

{"title":"Systemic therapy for patients with metastatic pheochromocytoma and paraganglioma.","authors":"Alessa Fischer, Jaydira Del Rivero, Katharina Wang, Svenja Nölting, Camilo Jimenez","doi":"10.1016/j.beem.2025.101977","DOIUrl":"10.1016/j.beem.2025.101977","url":null,"abstract":"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.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101977"},"PeriodicalIF":0.0,"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":0,"RegionCategory":"","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。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 Epub Date: 2024-09-21 DOI: 10.1016/j.beem.2024.101954

Lindsay R Friedman, Bhavishya Ramamoorthy, Naris Nilubol

{"title":"Progress in surgical approaches and outcomes of patients with pheochromocytoma and paraganglioma.","authors":"Lindsay R Friedman, Bhavishya Ramamoorthy, Naris Nilubol","doi":"10.1016/j.beem.2024.101954","DOIUrl":"10.1016/j.beem.2024.101954","url":null,"abstract":"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.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101954"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788041/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142376433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 Epub Date: 2024-08-14 DOI: 10.1016/j.beem.2024.101922

Felipe Freitas-Castro, Madson Q Almeida

{"title":"Personalized management for phaeochromocytomas and paragangliomas in Latin America: A genetic perspective.","authors":"Felipe Freitas-Castro, Madson Q Almeida","doi":"10.1016/j.beem.2024.101922","DOIUrl":"10.1016/j.beem.2024.101922","url":null,"abstract":"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.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101922"},"PeriodicalIF":0.0,"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":0,"RegionCategory":"","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.

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 Epub Date: 2025-01-22 DOI: 10.1016/j.beem.2025.101976

Karel Pacak, Svenja Nölting

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。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 Epub Date: 2024-11-14 DOI: 10.1016/j.beem.2024.101957

Christina Pamporaki, Ruth T Casey

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。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 Epub Date: 2024-08-23 DOI: 10.1016/j.beem.2024.101923

Zbyněk Tüdös, Lucia Veverková, Jan Baxa, Igor Hartmann, Filip Čtvrtlík

{"title":"The current and upcoming era of radiomics in phaeochromocytoma and paraganglioma.","authors":"Zbyněk Tüdös, Lucia Veverková, Jan Baxa, Igor Hartmann, Filip Čtvrtlík","doi":"10.1016/j.beem.2024.101923","DOIUrl":"10.1016/j.beem.2024.101923","url":null,"abstract":"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.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101923"},"PeriodicalIF":0.0,"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":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Localization in primary hyperparathyroidism. 原发性甲状旁腺功能亢进的定位。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-12-30 DOI: 10.1016/j.beem.2024.101967

Piyush Aggarwal, Vinisha Gunasekaran, Ashwani Sood, Bhagwant Rai Mittal

{"title":"Localization in primary hyperparathyroidism.","authors":"Piyush Aggarwal, Vinisha Gunasekaran, Ashwani Sood, Bhagwant Rai Mittal","doi":"10.1016/j.beem.2024.101967","DOIUrl":"https://doi.org/10.1016/j.beem.2024.101967","url":null,"abstract":"Primary hyperparathyroidism is the main cause of hypercalcemia, resulting predominantly from parathyroid adenomas followed by hyperplasia. Diagnosis relies on clinical and biochemical parameters. Accurate pre-operative localization is mandatory for better surgical outcome. Various non-invasive imaging modalities includes cervical ultrasound, radionuclide scintigraphy with 99mTc-Methoxyisobutyl isonitrile combined with SPECT/CT, 4DCT, MRI and 18F-Choline PET/CT. Functional imaging has shown higher accuracy in localization especially in ectopic parathyroid adenomas and persistent or recurrent hyperparathyroidism. Combined ultrasound and 99mTc-MIBI has shown high sensitivity and specificity than individual imaging modality. 18F-Choline PET/CT has better diagnostic performance in identifying parathyroid hyperplasia and multiple adenomas. In patients with equivocal findings and concurrent thyroid nodular diseases, 18F-Choline PET/MRI and 4DCT helps in better characterization of lesion. Intraoperative probe guided surgery facilitates targeted and minimally invasive surgery resulting in better surgical outcome. More specific radiopharmaceuticals for parathyroid imaging need to be developed to reduce false positive results.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101967"},"PeriodicalIF":0.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Parathyroid carcinoma: New insights. 甲状旁腺癌：新见解。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-12-27 DOI: 10.1016/j.beem.2024.101966

Abhishek Viswanath, Eftychia E Drakou, Fannie Lajeunesse-Trempe, Ashley B Grossman, Georgios K Dimitriadis

{"title":"Parathyroid carcinoma: New insights.","authors":"Abhishek Viswanath, Eftychia E Drakou, Fannie Lajeunesse-Trempe, Ashley B Grossman, Georgios K Dimitriadis","doi":"10.1016/j.beem.2024.101966","DOIUrl":"https://doi.org/10.1016/j.beem.2024.101966","url":null,"abstract":"Parathyroid carcinoma (PC) is a rare malignancy, comprising 1 % of all cases of primary hyperparathyroidism (PHPT). This narrative review explores recent advances in PC management, with a focus on molecular insights, diagnostic advancements, surgical innovations, and emerging targeted therapies. Manuscripts published between 2023 and 2024 were obtained from PubMed, EMBASE, and the Cochrane Central Register of Controlled Trials (CENTRAL). The review highlights advances in biochemical markers, such as circulating tumour cells (CTCs), and imaging modalities such as 18F-FDG PET/CT and 4D-CT, which are improving diagnostic accuracy. Surgical resection remains central to localised and metastatic disease management. For patients with widespread metastatic or unresectable disease, newer targeted approaches such as tyrosine kinase inhibitors (TKIs), temozolomide, and immune checkpoint inhibitors (ICIs) may offer clinical benefit to specific patient cohorts. This review identifies future research areas to improve outcomes and recommends that patients with advanced PC continue to be managed in centres of excellence.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101966"},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0