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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.

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We report the case of a previously independent 82-year-old female who experienced acute hemodynamic and respiratory deterioration requiring inotropic support due to a fat embolism during revision hip arthroplasty. Computed tomography pulmonary angiography demonstrated fat embolism, and transesophageal echocardiogram showed evidence of right ventricle strain and fat embolism in-transit in the right heart, as well as a moderate patent foramen ovale. Under transesophageal echocardiogram and intravascular ultrasound guidance, the Inari FlowTriever thrombectomy device was used successfully to retrieve the fat embolism with immediate hemodynamic improvement, no complications, and uneventful recovery.

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Background: Glucagon-like peptide-1 receptor agonists (GLP1RAs) are widely used in manageing type 2 diabetes mellitus and weight control. Their potential in treating ageing-related diseases has been gaining attention in recent years. However, the long-term effects of GLP1RAs on these diseases have yet to be fully revealed.

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