CUA 2013/2018 GL hereditary RCC genetic Screening

Question 1

How is VHL inherited?

Answer 1

Autosomal dominant, VHL gene, chromosome 3

Question 2

What are Non-GU manifestations of VHL?

Answer 2

CNs tumors, hemangioblastomas, retinal hemangiomas, pancreatic neuroendocrine tumors, endolymphatic sac tumors, broad ligament tumors

Question 3

What are GU manifestations of VHL?

Answer 3

ccRCC, adrenal pheochromocytomas, paragangliomas, , epidydimal cystadenomas

Question 4

How is hereditary papillary RCC inherited?

Answer 4

AD, MET proto-oncogene, present with type 1 Papillary RCC. NSS, surveillance of small tumors

Question 5

How is hereditary leiomyomatosis inherited?

Answer 5

AD, fumarate hydratase

Question 6

What are manifestations of HLRCC

Answer 6

cutaneous leiomyomas, uterine leiomyomas, type 2 papillary RCC

Question 7

What is the management of renal tumors in HLRCC?

Answer 7

aggressive, mandates an aggressive surgical treatment

Question 8

How is birt-hogg-Dube inheritted?

Answer 8

AD, folliculin gene (FLCN),

Question 9

what is the dermatological triad of BHD?

Answer 9

fibrofolliculomas, trichodiscomas, achrochondrons

Question 10

What are manifestations of BHD?

Answer 10

fibrofolliculomas, spontaneous pneumothorax, chromophobe RCC, oncocytomas

Question 11

How is TSC inherited>

Answer 11

AD, TSC1( Hemartin), TSC2 (Tuberin), loss leads to increase mTOR activity

Question 12

What are diagnostic criteriae of TSC?

Answer 12

cutaneous findings( plaques, nevi), retinal and CNS lesions( tubers), cardiac tumors, renal tumors. RCC, AML.

Question 13

What is the criteria for referring patients with renal tumors for genetic assessment?

Answer 13

• Patient with any renal tumor and one of the followings(bilateral or multifocal, age<45, 1st or 2nd degree relative with any renal tumor, a history of pneumothorax, dermatologic findings( fibrofollicuolomas, leiomyomas), one of the following associated tumors(pheochromocytomas/paragangliomas, hemangioblastoma of retina/brainstem/spinal cord, early onset of multiple uterine fibroids), lymphangiomatosis, childhood seizure disorder or 1st degree relative with one
• patients with non-clear cell RCC or unusual associated features
• patients with or without RCC who report a family history of any of the following: VHL, BHD, HPRCC, HLRCC, TSC, hereditary paranglioma/pheo