Laura Lee, MD: No financial relationships to disclose
Background: Paragangliomas are rare neuroendocrine tumors arising anywhere along the autonomic paraganglia. They may be found incidentally or identified due to symptoms from mass effect or catecholamine excess. About one third are associated with hereditary syndromes.
Case Presentation:
A 31-year-old woman with hypertension and pre-diabetes presented to the Emergency Department with back pain and hematuria. She also reported 2 – 3 years of excessive sweating and constipation and 2—3 weeks of palpitations.
She has hypertension, diagnosed at 13 years old. Her mother has hypertension and type 2 diabetes. There was no family history of endocrine neoplastic disorders.
On exam, she was tachycardic to 140, hypertensive to 152/118 with a BMI 21.8. Her exam was otherwise unremarkable except for abdominal tenderness.
CT imaging found an ill-defined bulky retroperitoneal soft tissue mass (10 x 8.5 x 7.5 cm) encasing the abdominal aorta and invading the inferior vena cava with left sided hydronephrosis and L2-S1 lesions suspicious for metastatic disease. She underwent a core needle biopsy of the mass. Cytology was concerning for paraganglioma. Labs were notable for plasma normetanephrines 38 nmol/L (normal < 0.90) and 24-hour urine normetanephrines 17900 mcg/24 hours (normal < 900).
She was diagnosed with metastatic paraganglioma. Genetic testing revealed she was heterozygous for a pathogenic variant in the Succinate Dehydrogenase B (SDH-B) gene.
Discussion:
Paragangliomas are typically diagnosed by a combination of biochemical evaluation and imaging. If a paraganglioma is suspected, biopsy is not recommended as this can precipitate excess catecholamine release.
Genetic testing helps with treatment planning and can establish risk in family members. The most common mutations belong to a family of genes known as the Succinate Dehydrogenase Subunit genes with mutations having an autosomal dominant inheritance with varying penetrance. Mutations in SDH-B portend a more aggressive course with higher malignancy potential.
The peak timing of diagnosis is the fourth decade of life. The majority of patients are symptomatic at time of presentation and have extra-adrenal sympathetic paragangliomas.
Treatment of paragangliomas includes management of catecholamine excess and mass effects. These options include surgery, radiation therapy, chemotherapy or peptide receptor radionuclide therapy (PRRT), or close observation. She received palliative radiation then PRRT as her tumor is inoperable with a high tumor burden and slow-to-moderate progression. She has since been in stable condition without disease progression.
Conclusions:
Symptoms of paragangliomas can be subcategorized into mass effect or catecholamine excess.
Paragangliomas with SDH-B mutations can cause aggressive tumors and metastatic disease.
Individualized therapy is recommended for a multimodal approach to management.
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