Criteria for screening for von Hippel-Lindau (VHL) disease*

Any blood relative of an individual diagnosed with VHL disease by gene analysis

Individuals with a VHL-associated lesion^¶ and a family history of VHL-associated lesions

Individuals with 2 or more VHL-associated lesions^¶

Individuals with any of the following:

Hemangioblastoma diagnosed at age <30 years

>2 central nervous system (CNS) hemangioblastomas (diagnosed at any age)

Clear cell renal carcinoma (RCC) diagnosed at age <40 years

Bilateral and/or multiple RCC

Pheochromocytoma (PHEO) diagnosed at age <40 years

Bilateral and/or multiple PHEO

Personal and family history of pheochromocytoma

>1 pancreatic serous cystadenoma

>1 pancreatic neuroendocrine tumor

Multiple pancreatic cysts + any VHL-associated lesion

Middle ear endolymphatic sac tumor (unilateral or bilateral)

Epididymal papillary cystadenoma (unilateral or bilateral)

Bilateral epididymal cysts

* As used by the Massachusetts General Hospital Center for Cancer Risk Analysis and the VHL Clinic.
¶ VHL-associated lesions include any of the following: hemangioblastoma, clear cell renal carcinoma, pheochromocytoma, middle ear endolymphatic sac tumor, epididymal papillary cystadenoma, pancreatic serous cystadenomas (but not mucinous cystadenoma), pancreatic neuroendocrine tumor. (Note: Simple cysts of the kidneys, pancreas, or liver are not considered VHL-associated lesions.)

Graphic 66320 Version 3.0

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Criteria for screening for von Hippel-Lindau (VHL) disease*