A 78-year-old woman had a history of hypertension from her forties. She suffered from headache and body weight loss. Abdominal CT revealed bilateral adrenal tumors and right external renal tumors enhanced in early stage. MIBG scintigraphy exhibited a high accumulation of tracer in both adrenal glands. On the basis of the radiographic findings and endocrinological results, the patient was diagnosed as having bilateral pheochromocytomas and right renal cell carcinoma. A bilateral adrenectomy was performed, followed by surgery for resection of the renal cell carcinoma. The other resected right kidney showed a clear cell subtype that was determined to be renal cell carcinoma, and proved that the pelvic tumor was transient cell carcinoma. Spinal MRI showed spinal hemangioblastoma.
PatientID: None
KindredID: 1
Case: F, 78Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: N/A
CasePresentingHPOs: HP:0006748; HP:0005584; HP:0006762; HP:0009713; HP:0008200 (Adrenal pheochromocytoma, renal cell carcinoma, pelvic carcinoma, spinal hemangioblastoma, primary hyperparathyroidism)
CaseHPOFreeText: The patient presented with a 3 year history of unstable blood pressure, headache, and chest oppression. The patient had been suffering from hypertension for 35 years. Upon initial examination, she was diagnosed with bilateral adrenal pheochromocytomas, right renal cell carcinoma, and right pelvic carcinoma (transient cell carcinoma). The blood pressure of the patient decreased after the operation, but returned to its preoperative level one month later. Two months after the initial diagnosis, the patient was diagnosed with spinal hemangioblastoma and primary hyperthyroidism. The calcium serum levels of the patient decreased after the operation, but returned to its preoperative level one month later.
CaseNotHPOs: HP:0008046 (Abnormal retinal vascular morphology)
CaseNotHPOFreeText: Fundoscopy did not show vascular abnormalities of the retina.
CasePreviousTesting: RET
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.Y98C (c.293A>G)
LegacyVariant: p.Y98C (c.506A>G)
ClinVarID: 223176, https://www.ncbi.nlm.nih.gov/clinvar/variation/223176/
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: Y98C(c.293A>G)
MultipleGeneVariants: N/A