Fig. 1

Family pedigree and clinical information. A The family pedigree of family 1, c.193T > C (p.Ser65Pro). B The family pedigree of family 2, c.194C > G (p.Ser65Trp). An arrow indicates the proband. Squares signify men, and circles women. The filled symbols represent affected individuals. A diagonal line across a symbol indicates a deceased person. CNSH, central nervous system hemangioblastoma; RCC, renal cell carcinoma; PCT, multiple pancreatic cysts or tumors; Pheo, pheochromocytoma. C–J Imaging and pathological findings of the patient III-1 of family 1. C, D: abdominal MRI showed multiple occupying lesions in the kidney; E multiple pancreatic cysts; F: renal tumor sections from the proband were stained with H&E; G hemangioblastomas in the left cerebellar vermis; H,I: Spinal hemangioblastomas at the T12-L1 level; J: Spinal tumor sections from the proband were stained with H&E. K–N Imaging of the patient III-4 of family 2. K-M, abdominal CT showed multiple occupying lesions in the kidney; N, multiple pancreatic cysts