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Head and Neck Paraganglioma in Pacak-Zhuang Syndrome.
JNCI Cancer Spectr
January 2025
Section on Medical Neuroendocrinology National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, 20892, MD, USA.
Head and neck paragangliomas (HNPGLs) are typically slow-growing, hormonally inactive tumors of parasympathetic paraganglia. Inactivation of prolyl-hydroxylase domain-containing 2 protein causing indirect gain-of-function of hypoxia-inducible factor-2α (HIF-2α), encoded by EPAS1, was recently shown to cause carotid body hyperplasia. We previously described a syndrome with multiple sympathetic paragangliomas caused by direct gain-of-function variants in EPAS1 (Pacak-Zhuang syndrome, PZS) and developed a corresponding mouse model.
View Article and Find Full Text PDFRole of neck dissections in the management of carotid body tumors.
Laryngoscope Investig Otolaryngol
February 2025
Division of Otolaryngology - Head and Neck Surgery, Department of Surgery Dalhousie University Halifax Nova Scotia Canada.
Objective: Carotid body tumors (CBTs) are rare neoplasms of the paraganglia at the carotid bifurcation. While typically benign, CBTs occasionally exhibit malignancy, metastasizing to nearby lymph nodes. Histopathologic analysis alone is insufficient to confirm malignancy, requiring metastases to non-neuroendocrine tissue for a definitive diagnosis.
View Article and Find Full Text PDFA rare case of bladder paraganglioma treated successfully with robotic partial cystectomy.
Endocr Oncol
January 2025
Department of Diabetes and Endocrinology, University College London Hospital NHS Foundation Trust, London, UK.
Unlabelled: Bladder paragangliomas are rare extra-adrenal urological tumors that account for around 0.05% of bladder cancers. Their diagnosis is often delayed because of the rarity of these tumors.
View Article and Find Full Text PDFPrecise diagnosis and effective management of highly vascular anterior mediastinal paragangliomas: A case report.
Int J Surg Case Rep
January 2025
Department of Thoracic surgery, National University Hospital, Damascus University, Damascus, Syria.
Introduction: Mediastinal paragangliomas are rare neoplasms arising from extra-adrenal neural crest cells, presenting as either functional or nonfunctional tumors. Clinical manifestations range from catecholamine-related symptoms to physical compression effects. Accurate recognition of these tumors is crucial for diagnosis and management due to their rarity and association with vital mediastinal structures.
View Article and Find Full Text PDFCarotid Body Tumor: Incidental Discovery and Diagnosis.
Cureus
December 2024
Internal Medicine, Texas Tech University Health Sciences Center, El Paso, USA.
Carotid body tumors (CBTs), rare neuroendocrine neoplasms near the carotid bifurcation, are mostly asymptomatic but may cause discomfort and autonomic dysfunction. Computed tomography angiography (CTA) is used for diagnosis, eliminating the need for a biopsy to avoid the risk of hemorrhage. Surgical excision is the preferred treatment, while radiotherapy is an option when surgery is impractical.
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