PatientID: 60

KindredID: N/A

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: The authors evaluated 64 VHL patients (32 women and 32 men) with renal involvement of whom 54/64 had undergone renal surgery or a radiofrequency thermal ablation procedure for RCC. In 10/64 VHL patients, at least one or more RCC were diagnosed, however at the time of diagnosis an indication for treatment was not yet present. For all patients several CT/MRI scans existed for retrospective description of tumour growth kinetics.

CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

CaseHPOFreeText: This is a tumor resolution study (VHL patients were investigated based on the presence of renal tumors.) No other phenotypic information is available.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1 describes 19 patients with missense mutations, including this patient.

Variant: p.L163H(c.488T>A)

LegacyVariant: c.701T>A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351756137

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: L163H(c.488T>A)

MultipleGeneVariants: N/A

The 10 year old female patient presented with sustained hypertension, headaches, and vomiting for several weeks. She had no signs of hypertensive retinopathy or papilledema. However, in the right eye, a small, white-yellowish nodular lesion in the retinal periphery was found. Luoresceinangiography showed early and late leakage and marked hyperfluorescence compatible with retinal hemangioblastoma. A heterozygous mutation 488T>A (Leu163His) in exon 3 of the VHL gene was identified (methods unspecified). Subsequently, bilateral pheochromocytomas were found. After surgical resection of the pheochromocytomas the patient was asymptomatic. No family history was mentioned.