Background: Up to 41% of intra- and extra-adrenal paragangliomas are linked to germline mutations with autosomal dominant transmission, which necessitates genetic testing for patients and their relatives.1-4 Certain alterations, such as the succinate dehydrogenase (SDH) subunit B gene mutation, are associated with a significant risk of extra-adrenal, malignant, and metastatic disease forms.4-7 This highlights the need for routine genetic counseling and diligent surveillance, as well as surgeon awareness of hereditary paraganglioma-pheochromocytoma syndrome (HPPS).
Methods: We present a multimedia article featuring a step-by-step video of a complex retroperitoneal resection, enriched with perioperative management insights.
Results: A 17-year-old female presented with episodes of hypertension, tachycardia, and diffuse diaphoresis. CT revealed a paraaortic mass adjacent to the left renal hilum later confirmed by a SPECT/CT with iodine-123 meta-iodobenzylguanidine.8 Additional imaging with gallium-68 DOTATATE was not performed then due to unknown mutation status. The patient underwent robotic removal of the tumor and adjacent lymph nodes. Pathology confirmed a poorly differentiated paraganglioma with 0/6 lymph node metastases. Genetic tests revealed SDHB gene mutation, indicative of HPPS.9,10 At 12 months, the patient remained disease-free on CT with normalized metanephrines levels and no detectable circulating tumor DNA. Familial screening detected her mother, maternal uncle, and maternal grandfather to be SDHB mutation carriers, although phenotypically silent.
Conclusions: Robotic-assisted resection can be safe and effective for retroperitoneal malignant paragangliomas. However, management extends beyond surgery and requires cascade genetic testing to address familial risks. Because of the high probability of cancer associated with SDHB mutation, lifelong patient surveillance is imperative.
© 2024. Society of Surgical Oncology.