Malignant Intrarenal/Renal Pelvis Paraganglioma with Co-Occurring SDHB and ATRX Mutations

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 paraganglioma after presenting in hypertensive crisis with palpitations, headache, and diaphoresis. He was later found to have extensive metastatic disease, as well as genetic testing that showed biallelic inactivation ofSDHB and a co-occurring somaticATRX mutation. Respectively, these germline and somatic mutations have been associated with increased risk of metastatic spread and clinical aggressiveness. Despite multiple surgical resections and various treatment modalities, the patient eventually elected for palliative care measures and died of disease. Together, the findings seen in this patient are unique and serve as an appropriate catalyst for discussing the unusual locations, interesting genetic profiles, and metastatic risk factors that may be associated with paragangliomas.
Source: Endocrine Pathology - Category: Pathology Source Type: research

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Source: Saude e Sociedade - Category: International Medicine & Public Health Source Type: research
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Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Medical Students - MD Source Type: forums
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Source: Psicologia USP - Category: Psychiatry & Psychology Source Type: research
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Source: Molecular Metabolism - Category: Endocrinology Source Type: research
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Source: Kevin, M.D. - Medical Weblog - Category: General Medicine Authors: Tags: Physician Geriatrics Primary Care Source Type: blogs
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Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - Category: Drugs & Pharmacology Authors: Tags: Biomed Pharmacother Source Type: research
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Source: Revista Brasileira de Anestesiologia - Category: Anesthesiology Tags: Rev Bras Anestesiol Source Type: research
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Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
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Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
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