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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 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 PDFA Typical Bezold Abscess With an Atypical Aetiology.
Cureus
December 2024
Department of Otolaryngology, Head and Neck Surgery, General Hospital of Athens "Georgios Gennimatas", Athens, GRC.
Objective: This study aims to present a case of temporal bone (TBP) paraganglioma with an insidious clinical presentation, deviating significantly from the typical hearing loss and pulsatile tinnitus pattern.
Methods: A 70-year-old lady presented to the emergency department with a five-day history of right progressive later cervical swelling extending to the mastoid region and chronic worsening purulent otorrhea. The clinical and radiological findings confirmed the presence of a chronic middle ear process complicated by a Bezold abscess.
Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis.
Exp Ther Med
February 2025
Molecular Pathology, Azienda USL-IRCCS di Reggio Emilia, I-42123 Reggio Emilia, Italy.
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with an annual incidence of ~2 cases per million worldwide. The hereditary form is more likely to present in younger patients. To date, PPGL is considered a complex pathology that is difficult to diagnose.
View Article and Find Full Text PDFGenotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.
J Clin Endocrinol Metab
January 2025
Metabolic Diseases Branch, Bldg. 10/Rm 8C-101, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892.
Establishing genotype-phenotype correlations in disorders of hereditary endocrine neoplasia is important for clinical screening, genetic counseling, prognostication, surveillance, and surgical strategy, and may also provide clues about disease pathogenesis. Important genotype-phenotype correlations are recognized, for example, in pheochromocytoma/paraganglioma and multiple endocrine neoplasia type 2A. The presence of such correlations has been less clear in other familial endocrine disorders associated with primary hyperparathyroidism including multiple endocrine neoplasia type 1 (MEN1), and the hyperparathyroidism-jaw tumor syndrome (HPT-JT).
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