Table 1.

Clinical diagnostic criteria for VHL syndrome vs. present case.

Diagnostic criterion	Standard VHL criteria	Findings in the present case
Family history	Positive family history of VHL (1st- or 2nd-degree relative)	No family history of VHL or related tumors
For patients with a family history	≥1 VHL-related manifestation (CNS HB, retinal HB, RCC, or pheochromocytoma)	N/A (no family history)
For patients without a family history	≥2 VHL-related manifestations, one of which should be a hemangioblastoma	CNS hemangioblastoma (lateral ventricular) + history of renal cell carcinoma + multiple visceral lesions (pancreatic cysts, renal cysts, adrenal mass)
VHL-related manifestations recognized	Retinal HB, CNS HB, RCC, pheochromocytoma, PNET, ELST, multiple kidney cysts, multiple pancreatic cysts	CNS HB (✓), RCC (✓ by history), multiple kidney cysts (✓), multiple pancreatic cysts (✓), adrenal lesion (possible pheochromocytoma or adenoma)
Genetic testing	Germline VHL gene mutation (gold standard)	Not performed (clinical diagnosis only)
Clinical diagnosis conclusion	Meets criteria if ≥2 manifestations present without family history	Meets clinical criteria: CNS HB + RCC history + multiple visceral cysts → clinical diagnosis of VHL syndrome established

CNS, central nervous system; ELST, endolymphatic sac tumor; PNET, pancreatic neuroendocrine tumor; RCC, renal cell carcinoma.