The patient was a 10-year-old male who presented with dizziness and headache for 1 month and blurry vision for 2 weeks. An abdominal CT scan revealed two masses in his bilateral adrenals (Fig. 1E) and Pheos were confirmed pathologically. Sequencing screening identified a heterozygous missense mutation (c.293A>G; p.Try98Cys) in VHL (Fig. 2E). Additionally, both his grandmother and mother had Pheos in their bilateral and left adrenals.
45 individuals from 5 unrelated Chinese families were evaluated, of which 21 patients were diagnosed with VHL or showed strong evidence of having this disease. In family 5, the proband was a 10 year old male who presented with bilateral adrenal pheochromocytoma. His mother had left adrenal pheochromocytomas, and his grandmother had bilateral adrenal pheochromocytomas. Based on his clinical presentation and family history, he was diagnosed with VHL. DNA was isolated from a peripheral blood sample from the proband, and screened for a variety of pheochomocytoma and renal cell carcinoma mutations using Target Capture-Based Deep Sequencing (BGI Health.) This revealed the a heterozygous c.293A>G (p.Try98Cys) mutation in their VHL gene. ACMG evidence codes: PP4- patient’s phenotype or family history is highly specific for a disease with a single genetic etiology.