A 33-year-old man was admitted to Zhongda Hospital, Southeast University (Nanjing, China) with a two-month history of progressive right flank pain, accompanied by a one-month history of recurrent painless gross hematuria. The patient's previous medical history included urological surgery at the age of 23 years due to an epididymal cyst and an ophthalmologic surgery at 26 years of age for retinal detachment resulting from bilateral retinal angiomatosis, which was performed at Shuyang People's Hospital (Suqian, China). At the time of the present study, the patient had two children, a son and a daughter, who were in good health; his father, aged 65 years, and his mother, aged 62 years, were also in good health. The patient's two brothers, aged 40 and 37 years old, with one child each were all are in good health.
PatientID: N/A
KindredID: 1
Case: M, 33Y0M, Chinese
DiseaseAssertion: VHL
FamilyInfo: Genetic analysis of the patient's parents and brothers, who were unaffected, confirmed a diagnosis of de novo VHL disease.
CasePresentingHPOs: HP:0030424, HP:0009711, HP:0005584, HP:0006770, HP:0001737, HP:0000107 (epididymal cyst, retinal capillary hemangioma, renal cell carcinoma, clear cell renal cell carcinoma, pancreatic cysts, renal cyst)
CaseHPOFreeText: He was admitted to the hospital with a two-month history of progressive right flank pain, accompanied by a one-month history of recurrent painless gross hematuria. The patient's previous medical history included urological surgery at the age of 23 years due to an epididymal cyst and an ophthalmologic surgery at 26 years of age for retinal detachment resulting from bilateral retinal angiomatosis. Contrast-enhanced computed tomography (CT) scanning and angiography were used to detect the presence of quasi-circular enhancing lesions in the middle of the left kidney and large irregular enhancing lesions in the right kidney, extending into the vena cava, that formed an embolus. In addition, multiple cysts in the pancreas and kidney were detected radiologically. The patient underwent a radical nephrectomy with an embolectomy of the right kidney for treatment of T3b-stage renal cell carcinoma. After three months, he successfully underwent laparoscopic nephron-sparing surgery (NSS) of the left kidney. Histological analysis of the renal tissue revealed clear cell carcinomas.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
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: N/A
MutationType: missense_variant;transversion
CivicName:S65W(c.194C>G)
MultipleGeneVariants: N/A