Table 1.

PCC/PGL syndromes and screening recommendations.

Syndrome	Associated syndromic features	Recommended first screening	Recommended follow-up screening
Von Hippel Lindau	CNS/retinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic neuroendocrine tumor, endolymphatic sac tumors, renal and pancreatic cysts	5 years old: plasma-free metanephrines or 24-h urine-fractionated metanephrines, audiology, ophthalmology, blood pressure, neurologic exam.	Yearly repeat initial screening. At 11 years, begin MRI brain and spinal cord every 2 years. At age 15, begin MRI abdomen every 2 years.
Multiple endocrine neoplasia type 2	MEN2A: Medullary thyroid cancer, pheochromocytoma, primary hyperparathyroidism MEN2B: Medullary thyroid cancer, pheochromocytoma, mucosal neuromas	MEN 2A: Calcitonin at 3–5 years old or prophylactic thyroidectomy. Calcium and PTH at 8 years old or 20 years old depending on variant. MEN 2B: Calcitonin at 6 months old or prophylactic thyroidectomy. Plasma-free metanephrines or 24-h urine-fractionated metanephrines at 11 years old (for PVs in codon 634, 883, or 918) or 16 years old (for other PVs).	Metanephrines, calcitonin, calcium and PTH yearly. Imaging indicated if labs abnormal.
Neurofibromatosis type 1	Neurofibromas (cutaneous or subcutaneous), plexiform neurofibromas, optic glioma, malignant peripheral nerve sheath tumor, café-au-lait spots, freckling, long bone abnormalities. Associated: pheochromocytoma, juvenile chronic myelogenous/myelomonocytic leukemia	At diagnosis: dermatology, ophthalmology, developmental assessment, blood pressure. If elevated blood pressure or symptoms of catecholamine excess, measure plasma-free metanephrines or 24-h urine-fractionated metanephrines. Mammography at age 30.	Yearly physical exam, ophthalmology evaluation of MRI brain if symptomatic. Mammography annually after 30 years.
SDHx-associated hereditary paraganglioma-heochromocytoma syndrome	SDHA, B, C, D: Paraganglioma, pheochromocytoma at any location, renal cell carcinoma, GI stromal tumors SDHAF2: Head/neck paraganglioma	SDHB: 6–10 years old plasma-free metanephrines or 24-h urine-fractionated metanephrines and full- body MRI from skull base to pelvis. SDHA, C, D: 10–5 years old plasma-free metanephrines or 24-h urine-fractionated metanephrines and full-body MRI from the skull base to pelvis. SDHAF2: less well-defined. Typically use above recommendations.	<18 years old: Biochemical evaluation every 2 years and full-body MRI from skull base to pelvis every 2–3 years. >18 years old: annual biochemical evaluation and full-body imaging from skull base to pelvis every 2–3 years.
TMEM127-associated PCC/PGL	Paraganglioma, pheochromocytoma, renal cell carcinoma	At diagnosis: Plasma-free metanephrines or 24-h urine-fractionated metanephrines and full-body MRI from skull base to pelvis.	Annual biochemical evaluation and full-body MRI from skull base to pelvis every 2 years.
MAX-associated PCC/PGL	Pheochromocytoma, paraganglioma	At diagnosis: Plasma-free metanephrines or 24-h urine-fractionated metanephrines and full-body MRI from skull base to pelvis.	Annual biochemical evaluation and full-body MRI from skull base to pelvis every 2 years.