paraganglioma

Etiology

• arise from specialized neural crest cells associated with autonomic ganglia throughout the body (paraganglion)
• subtypes by anatomic site include:
  • carotid body paraganglioma (chemodectoma)
  • jugulotympanic paraganglioma (glomus jugulare tumor)
  • pheochromocytoma of adrenal gland

Epidemiology

• 5-10% occur outside the adrenal gland
• Can also occur in cauda equina region of spinal cord, (~120 cases reported as of 2000)

Pathology

• generally benign, neural crest derived tumors of parasympathetic ganglia
• highly vascular, slowly growing tumors in the head & neck
• non-chromaffin paragangliomas generally carotid body tumor
• associated hereditary neoplastic syndromes include:
  • Carney complex
  • Carney triad
  • multiple endocrine neoplasia (MEN2A & MEN2B)
  • neurofibromatosis 1
  • von Hippel-Lindau disease
  • Sturge-Weber syndrome

Genetics

• autosomal dominant non-chromaffin paraganglioma type 1 associated with defects in SDHD (penetrance is incomplete when transmitted through fathers; not transmitted maternally)
• autosomal dominant non-chromaffin paraganglioma type 3 associated with defect in SDHC

Laboratory

• 24 hour urine metanephrines*
• 24 hour urine catecholamines
• plasma free metanephrines*

* urinary metanephrines with higher specificity

* plasma free metanenephrines with higher sensitivity

More general terms

• neuroendocrine neoplasm
• autonomic nervous system neoplasm

More specific terms

• benign paraganglioma
• carotid body tumor
• familial nonchromaffin paraganglioma
• glomus jugulare tumor; jugulotympanic paraganglioma
• pheochromocytoma; paroxysmal hypertension; adrenal medullary paraganglioma; chromoffinoma
• primary CNS paraganglioma; spinal cord paraganglioma

Patient information

paraganglioma patient information