Table 1.

Recommended assessment and followup of hereditary RCC syndromes

Syndromes	VHL	HPRC	HLRCC	BHD	PGL-PCC	TSC
Gene affected	VHL	MET	FH	FLCN	SDHB, SDHC, SDHD	TSC1, TSC2
Renal	ccRCC US of abdomen Start: Age 8 Freq: Once CT or MRI of abdomen Start: Age 15 Freq: Annual	Papillary I RCC CT or MRI of abdomen Start: Age 18. Freq: If baseline imaging normal, CT scan of the abdomen or MRI at age 30 and then biannually	Papillary II RCC MRI of abdomen Start: Age 8 Freq: Once US of abdomen Start: Age 12 Freq: Biannual CT or MRI of abdomen Start: Age 18 Freq: Annual	Oncocytic, chromophobe RCC CT or MRI of abdomen Start: Age 20 Freq: Every 1–3 years	ccRCC CT or MRI of abdomen Start: Age 15 Freq: Annual	AML MRI of abdomen Start: At diagnosis Freq: Every 1–3 years BP and renal function assessment (using creatinine or cystatin C concentrations) Start: At diagnosis Freq: Annual
CNS	Hemangioblastoma MRI of brain and spine Start: Age 11 Freq: 1–2 years					SEN, SEGA, tubers, seizures MRI of brain Start: At diagnosis Freq: Every 1–3 years EEG Start: At diagnosis Freq: As clinically indicated
Neuroendocrine	Pheochromocytoma Plasma or urinary metanephrines and cathecholamines Start: Age 2 Freq: Annual				Pheochromocytoma paraganglioma Plasma or urinary metanephrines and cathecholamines and US of abdomen Start: Age 3 Freq: Annual
Eye	Retinal angiomas Dilated fundoscopy Start: Birth Freq: Annual					Retinal hamartomas achromic patches Dilated fundoscopy Start: At diagnosis Freq: Annual
Ear	Endolymphatic sac tumours Audiology testing Start: Age 5–14 Freq: Annual MRI if recurrent childhood ear infections
Gastrointestinal	Pancreatic cysts and neuroendocrine pancreatic lesions CT or MRI of abdomen Start: Age 18 Freq: Annual			Colonic neoplasia Standard population screening guidelines for colon cancer	Gastrointestinal stromal tumour (GIST) MRI of abdomen vs. endoscopy Start: Shared decision-making on a case-by-case basis given paucity of information
Gynecologic/genital	Cystadenomas of the epididymis or broad uterine ligament No surveillance		Leiomyomas and leiomyosarcomas Gynecologic evaluation and US of pelvis Start: Age 21 Freq: Annual
Dermatologic			Leiomyomas and leiomyosarcomas Dermatologic assessment Start: Age 8 Freq: Annual	Melanoma, fibrofolliculomas and other lesions Dermatologic assessment Start: Diagnosis Freq: Routine followup not recommended		Angiofibromas and other lesions Dermatologic assessment Start: At diagnosis Freq: Annual
Respiratory				Cystic lung disease CT of chest Start: At diagnosis Freq: As clinically indicated		LAM CT of chest and PFT Start: All adult females or symptomatic patients Freq: Every 5–10 years if asymptomatic. If cysts present, preform annual PFT
Psychiatric						TAND Clinical monitoring* Start: At diagnosis Freq: As clinically indicated in adulthood
Dental						Oral fibroma, cysts Oral exam as in general population Start: At diagnosis Freq: Semiannual
Cardiac						Rhabdomyomas Echocardiogram Start: Fetal, or in pediatric patients less than 3 years ECG for conduction defects Start: At any age Freq: Every 3–5 years

^*This could be performed by appropriate developmental, neuropsychological, mental health, behavioural and educational specialist; ccRCC: clear-cell renal cell carcinoma; CNS: central nervous system; CT: computed tomography; ELST: endolymphatic sac tumour; HTN: hypertension; LAM: lymphangioleiomyomatosis; MRI: magnetic resonance imaging; NCI: National Cancer Institute (USA); PFT: pulmonary function test; RCC: renal cell carcinoma; SEGA: subependymal giant cell astrocytoma; SEN: subependymal nodules; TAND: TSC-associated neuropsychiatric disorder; US: ultrasound; VHL: von Hippel Lindau.