Pheochromocytoma and Paraganglioma

New England Journal of Medicine,Volume 381, Issue 19, Page 1882-1883, November 2019.
Source: New England Journal of Medicine - Category: Internal Medicine Source Type: research

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Conditions:   Adrenocortical Carcinoma;   Pheochromocytoma;   Paraganglioma Intervention:   Biological: EO2401 Sponsor:   Enterome Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
ConclusionsA delay in diagnosis or lack of a diagnosis in pheochromocytoma and paraganglioma may increase the perioperative morbidity and mortality risk due to excess catecholamine secretion. Therefore, routine pheochromocytoma and paraganglioma screening preoperatively in patients with neurofibromatosis type 1 is very important.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Purpose of review Although the majority of pheochromocytoma and paraganglioma are benign, 15–17% develop metastatic disease, being present at the initial diagnosis in about 11–31% of cases. The natural course of metastasized disease is highly heterogeneous, with an overall 5-year survival rate varying between 40% and 85%. For individual patients, overall survival, progression-free survival, and clinical outcome are difficult to predict. Management of metastasized pheochromocytoma and paraganglioma is challenging. Currently available therapeutic options are surgical debulking, treatment with radiopharmaceutica...
Source: Current Opinion in Oncology - Category: Cancer & Oncology Tags: ENDOCRINE TUMORS: Edited by Christiane Jungels Source Type: research
This study documents that the loss of BAP1 nuclear expression is quite a frequent finding in PCC/PGL, suggesting a possible role ofBAP1 in the pathogenesis of these tumors. Gene mutations do not seem to be involved in this loss of expression, at least in most cases. Other genetic and epigenetic mechanisms need to be further investigated.
Source: Endocrine Pathology - Category: Pathology Source Type: research
To the Editor As academic physicians with an interest in pheochromocytoma/paraganglioma, we read with great interest the article by McCrary et al characterizing malignant head and neck paragangliomas (HNPGLs). The authors used the paraganglioma cohort from an academic tertiary cancer center diagnosed between 1963 and 2018. They found that the prevalence of malignant HNPGLs was 6 of 70 (9%), with 5 of 6 patients carrying the succinate dehydrogenase subunit B (SDHB) mutation. They suggested that patients with paragangliomas should undergo genetic testing, and owing to the difficulty in diagnosing malignant HNPGL prior to sur...
Source: JAMA Otolaryngology - Head and Neck Surgery - Category: ENT & OMF Source Type: research
AbstractParagangliomas are rare neuroendocrine tumors which originate from embryonic neural crest cells. These tumors may arise from parasympathetic or sympathetic paraganglia, may secrete catecholamines, and can occur in varied anatomic locations, with some locations being less common than others. Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas and pheochromocytomas and have been associated with germline heterozygous mutations inMAX,SDHA,SDHAF2,SDHB,SDHC,SDHD, orTMEM127. Herein, we report a case of a middle-aged male who was diagnosed with an intrarenal/renal pelvis paraga...
Source: Endocrine Pathology - Category: Pathology Source Type: research
Conclusion: About 37% of PPGL without family history of such tumors harbor germline mutations. The most commonly mutated gene is SDHB followed by SDHC, SDHD, VHL, MAX and rarely RET, SDHA, SDHAF2, TMEM127 and NF1. SDHB mutations were associated with metastatic PPGL in more than a quarter of cases. PMID: 31666924 [PubMed]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
CONCLUSION: Our findings extend the spectrum of transcriptional dysregulations in PPGL to lncRNAs and provide a novel biomarker that could be useful to identify potentially metastatic tumors in patients carrying SDHx mutations. PMID: 31678991 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research
Publication date: Available online 24 October 2019Source: Best Practice &Research Clinical Endocrinology &MetabolismAuthor(s): Sina Jasim, Camilo JimenezAbstractMetastatic pheochromocytomas and paragangliomas (MPPGs) are rare neuroendocrine tumors. Most patients present with advanced disease that is associated with manifestations of catecholamine release. Surgical resection of the primary tumor and ablative therapies of metastases—whenever possible—may improve clinical outcomes and, perhaps, lengthen the patient’s overall survival. Significant steps in understanding the genetic alterations linked ...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - Category: Endocrinology Source Type: research
This article summarizes current clinical approaches in patients with pheochromocytoma/paraganglioma.
Source: Endocrinology and Metabolism Clinics of North America - Category: Endocrinology Authors: Source Type: research
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