Purpose of review Great progress has been made in understanding the genetic and molecular basis of pheochromocytoma and paragangliomas (PPGLs). This review highlights the new standards in the diagnosis and management of pediatric PPGLs. Recent findings The vast majority of pediatric PPGLs have an associated germline mutation, making genetic studies imperative in the work up of these tumors. Somatostatin receptor-based imaging modalities such as 68Ga-DOTATATE and 64Cu-DOTATATE are shown to have the greatest sensitivity in pediatric PPGLs. Peptide receptor radionuclide therapies (PRRTs) such as 177Lu-DOTATATE are shown to have efficacy for treating PPGLs. Summary Genetics play an important role in pediatric PPGLs. Advances in somatostatin receptor-based technology have led to use of 68Ga-DOTATATE and 64Cu-DOTATATE as preferred imaging modalities. While surgery remains the mainstay for management of PPGLs, PRRT is emerging as a treatment option for PPGLs

Background: More than 40% of pediatric pheochromocytoma or paragangliomas have associated underlying genetic germline mutation. (1) Clinical Case: We present an 8-year-old male who arrived the emergency department with hypertension to 170/115. MRI of the abdomen revealed bilateral well demarcated adrenal masses with central necrosis. Urine metanephrines showed elevated normetanephrine of 15244 µg/24 hr (reference range, 58 - 670 µg/24 hr) and normal urine metanephrines. Urinary vanillylmandelic acid was mildly elevated 35 mg/gCr and homovanillic acid was normal. MIBG scan revealed increased radiotracer activity correlating to the bilateral adrenal masses without evidence of metastasis. Diagnosis of bilateral pheochromocytomas was made. Genetic testing revealed a novel, heterozygous, pathogenic variant of VHL tumor suppressor gene, consistent with Von Hippel-Lindau syndrome. Perioperative blockade was achieved with prazosin, amlodipine, and metoprolol. Due to low likelihood of metastasis in pheochromocytomas due to VHL, adrenal sparing bilateral adrenalectomy was attempted and resulted in 15% sparing of left adrenal gland vs radial bilateral adrenalectomy. (2) Clinical Lessons: 1. Endocrine etiologies of hypertension, although rare, are important causes of hypertension in the pediatric population. 2. Genetic testing prior to surgical intervention could determine surgical course and preservation of adrenals. 3. A multidisciplinary approach to care and referral to a center with experienced surgery, oncology, nephrology, endocrinology, anesthesiology, critical care and genetics is crucial to maximizing outcomes with pheochromocytoma. Reference: 1. NGS in PPGL (NGSnPPGL) Study Group, Toledo RA, Burnichon N, Cascon A, Benn DE, Bayley JP, Welander J, Tops CM, Firth H, Dwight T, Ercolino T, Mannelli M, Opocher G, Clifton-Bligh R, Gimm O, Maher ER, Robledo M, Gimenez-Roqueplo AP, Dahia PL. Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. Nat Rev Endocrinol. 2017 Apr;13(4):233–247. 2. King KS, Prodanov T, Kantorovich V, Fojo T, Hewitt JK, Zacharin M, Wesley R, Lodish M, Raygada M, Gimenez-Roqueplo AP, McCormack S, Eisenhofer G, Milosevic D, Kebebew E, Stratakis CA, Pacak K. Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations. J Clin Oncol. 2011 Nov 1;29(31):4137–42.