Page 5 - Structured assessment and followup for patients with hereditary kidney tumour syndromes

Lattouf et al.

Table 1. Recommended assessment and followup of hereditary RCC syndromes (cont’d)
Syndromes VHL HPRC HLRCC BHD PGL-PCC TSC
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.

Table 2. Existing guidelines for VHL disease screening and followup
Organ system NCI recommendations VHL Alliance guidelines Danish VHL guidelines
US of abdomen
Start: Age 8–18 (earlier if indicated) US of abdomen US of abdomen
Start: Age 8–14
Start: Age 8
Freq: As clinically indicated
Freq: Annual Freq: One baseline
Kidney
CT of abdomen ± contrast (alternate with MRI of abdomen US or MRI of abdomen
MRI)
Start: Age 16
Start: Age 18 Freq: At least every second year Start: Age 15
Freq: Annual
Freq: Annual
Physical exam with neurological Neurological assessment
assessment Start: Age 15
Start: Age 1 Freq: Annual
Enhanced MRI of brain/spine. Freq: Annual
CNS Start: Age 11
Freq: Every 1–2 years and if symptomatic MRI of brain, cervical, thoracic and MRI CNS
lumbar spine Start: Age 8–14
Start: Age 16 Freq: One baseline, then
Freq: Every 2–3 years biannual starting age 15
Ophthalmoscopy Ophthalmoscopy Dilated ophthalmoscopy
Eye Start: Birth Start: Age 1 Start: Birth
Freq: Every 6–12 months Freq: Annual Freq: Annual
Plasma or urine fractionated Plasma-metanephrine and
metanephrines and
Plasma or 24 hours urinary cathecholamines normetanephrine plasma normetanephrine
Start: Age 5 years
and metanephrines Start: Age 5 years
Neuro-endocrine Start: Age 2 Freq: Annual Freq: Annual
Freq: Annual and as clinically indicated if Plasma chromogranin A
HTN US of abdomen Start: Age 15
Start: Age 8 or earlier if indicated Freq: Annual
Freq: Annual
MRI and CT of internal auditory canal. Audiology assessment
Audiology and neurology assessments Audiology assessment Start: Age 5
Ear Start: Age 5
Start: Any age for hearing loss, tinnitus, or Freq: Every 2–3 Freq: Annual
vertigo
CNS: central nervous system; CT: computed tomography; ELST: endolymphatic sac tumour; HTN: hypertension; MRI: magnetic resonance imaging; NCI: National Cancer Institute (USA); RCC:
renal cell carcinoma; US: ultrasound; VHL: von Hippel Lindau.

E218 CUAJ • July-August 2016 • Volume 10, Issues 7-8