Page 3 - Structured assessment and followup for patients with hereditary kidney tumour syndromes

Lattouf et al.

Table 1. Recommended assessment and followup of hereditary RCC syndromes
Syndromes VHL HPRC HLRCC BHD PGL-PCC TSC
Gene VHL MET FH FLCN SDHB, SDHC, SDHD TSC1, TSC2
affected
Renal ccRCC Papillary I RCC Papillary II RCC Oncocytic, ccRCC AML
chromophobe RCC
US of abdomen CT or MRI of MRI of abdomen CT or MRI of MRI of abdomen
Start: Age 8 abdomen Start: Age 8 CT or MRI of abdomen Start: At diagnosis
Freq: Once Start: Age 18. Freq: Once abdomen Start: Age 15 Freq: Every 1–3
Freq: If baseline Start: Age 20 Freq: Annual years
CT or MRI of imaging US of abdomen Freq: Every 1–3
abdomen normal, CT Start: Age 12 years BP and renal
Start: Age 15 scan of the Freq: Biannual function
Freq: Annual abdomen or assessment
MRI at age CT or MRI of (using creatinine
30 and then abdomen or cystatin C
biannually Start: Age 18 concentrations)
Freq: Annual Start: At diagnosis
Freq: Annual
CNS Hemangioblastoma SEN, SEGA, tubers,
seizures
MRI of brain and MRI of brain
spine Start: At diagnosis
Start: Age 11 Freq: Every 1–3
Freq: 1–2 years years

EEG
Start: At diagnosis
Freq: As clinically
indicated
Neuro- Pheochromocytoma Pheochromocytoma
endocrine paraganglioma
Plasma or urinary
metanephrines and Plasma or urinary
cathecholamines metanephrines and
Start: Age 2 cathecholamines and
Freq: Annual US of abdomen
Start: Age 3
Freq: Annual
Eye Retinal angiomas Retinal
hamartomas
Dilated fundoscopy achromic patches
Start: Birth
Freq: Annual 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
*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.
1‒2 years. A specialized VHL MRI protocol should be used on the posterior fossa and cervical-thoracic and lumbar spines.
a 1.5T MRI with and without contrast with thin cuts through For pheochromocytomas, the median age of diagnosis is

E216 CUAJ • July-August 2016 • Volume 10, Issues 7-8