CUA CS 2016 Structured assessment and FU Hereditary RCC syndromes

Question 1

what is the recommended FU for VHL for kidneys and adrenals?

Answer 1

For kidneys start at age 8 with annual US, a age 15 start MRI Q every other year, for pheo start annual Plasma free metanephrine or 24 hour urine at AGE OF TWO. at 15 start cross sectional imaging every other year

Question 2

When should survaillance of brain and spine start for VHL for hmangioblastomas?

Answer 2

at age 11, Q 1-2 years with 1.5 T MRI

Question 3

What screening is recommended for Retinal angiomas in patients with VHL?

Answer 3

start at birth/diagnosis with ophthalmoscopy Q 6-12 months

Question 4

What screening is recommended for endolyphatic sac tumors in patients with VHL?

Answer 4

hearing assessment age 5-14 yearly. When older do these exams if hearing loss or tinitus etc. in case of recurrent ear infections MRI of temporal bone mastoid may be needed.

Question 5

IS hearing loss from endolymphatic sac tumors reversible if it occurs in VHL?

Answer 5

NO

Question 6

What screening is recommended for HPRCC?

Answer 6

Enhanced CT or MRI at age 18 then risk stratified approach. Once you hit 30 start Enhanced CT or MRI Q 2 years.

Question 7

What FU is recommended for patients with HLRCC?

Answer 7

Annual MRI starting at age 8 for kidneys( risk stratified after)/ US biannually starting 12. but then annual MRI again at 18. gynecologic exam and US starting 21 annual, deramtology assessment Q yearly starting at 8.

Question 8

What FU is recommended for patients with BHD?

Answer 8

MRI/CT starting at age 20 Q 12-36 months. CT lung at diagnosis( or before 20 if they are divers), Dermatologic assessment for fibrofolliculomas at diagnosis, NO screening for melanoma needed

Question 9

What screening is recommended for patients with PGL-PCC(SDHB,SDHC, SDHD)

Answer 9

24 hour urinary metanephrines and plasma free metanephrines annually starting 3, US abdo annual too. CT/MRI abdo starting 15 for kidneys done annually. GISTs: shared decision making/ referral to GI for screening.

Question 10

What renal imaging / serology if any is recommended for TSC patients?

Answer 10

MRI at dx and Q 1-3 years after, BP + renal function( via cr or cystain C) Q yearly

Question 11

What imaging/ tests of CNS are recommended for TSC?

Answer 11

MRI brain at dx then Q 1-3 years. EEG at dx. also psych assessment at diagnosis and as indicated after

Question 12

What eye tests are recommended for patients with TSC

Answer 12

Annual fundoscopic exam starting at dx. Retinal hemartomas and achromatic patches

Question 13

What skin assessment is recommended for patients with TSC?

Answer 13

at dx and yearly. angiofibromas

Question 14

What chest imaging is recommended for patients with TSC?

Answer 14

CT chest at diagnosis and PFTs. Q 5-10 years for CT. If cysts are present do annual PFTs.