A 65-year-old female was admitted to the outpatient clinic of the Urology Department, Peking University First Hospital, with a chief complaint of blood in her urine without pain in December of 2007. An abdominal computed tomography scan revealed bilateral RCC with multiple renal cysts as well as multiple pancreatic cysts (Fig. 1). Fifteen years ago, the patient was also found to have multiple cysts in both kidneys. She had no other clinical manifestations usually associated with VHL, such as the symptoms from CNS, retinal or adrenal involvement. Because of the diffuse nature of her bilateral kidney lesions, radical nephrectomy was not possible. The patient died 1 year after initial presentation.
PatientID: N/A
KindredID: 1
Case: F, 66Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Her son had a normal phenotype and was not found to carry the VHL mutation. Her daughter harboured the mutation but the PCR product from the patient was weaker than that from her daughter. The daughter presented with a CNS hemangioblastoma and died of complications at 37 years of age.
CasePresentingHPOs: HP:0005584, HP:0005562, HP:0001737, HP:0000112 (renal cell carcinoma, multiple renal cysts, pancreatic cysts, nephropathy)
CaseHPOFreeText: Fifteen years ago (age 50), the patient was also found to have multiple cysts in both kidneys. She was admitted to the outpatient clinic of the Urology Department, Peking University First Hospital, with a chief complaint of blood in her urine without pain in December of 2007. An abdominal computed tomography scan revealed bilateral RCC with multiple renal cysts as well as multiple pancreatic cysts. Furthermore, patient had severe bilateral kidney disease. The patient died at age 66 due to renal cell carcinoma.
CaseNotHPOs: N/A
CaseNotHPOFreeText: She had no other clinical manifestations usually associated with VHL, such as the symptoms from CNS, retinal or adrenal involvement.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.S65W(c.194C>G)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 43597 https://www.ncbi.nlm.nih.gov/clinvar/variation/43597/
CAID: CA020099 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.194C%3EG
gnomAD: N/A
VariantEvidence: The c.194C>G mutation rate was 18.8 ± 3.84% in the patient.
MutationType: missense_variant;transversion
CivicName:S65W(c.194C>G)
MultipleGeneVariants: N/A