The second patient (case 2) presented with bilateral adrenal pheochromocytomas, the first involving her left adrenal removed at age 23 and the second in her right adrenal removed at age 27. Recurrent disease was indicated 4 years later at age 31 with the onset of renewed signs and symptoms and consistently positive biochemical test results. The patient was referred to the NIH at age 33 at which time diffuse peritoneal metastases were revealed that were too extensive for surgical intervention.
PatientID: 2
KindredID: 2
Case: F, 33Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: N/A
CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)
CaseHPOFreeText: Presented with bilateral adrenal pheochromocytomas, the first involving her left adrenal removed at age 23 and the second in her right adrenal removed at age 27. Recurrent disease was indicated 4 years later at age 31 with the onset of renewed signs and symptoms and consistently positive biochemical test results. The patient was referred to the NIH at age 33 at which time diffuse peritoneal metastases were revealed that were too extensive for surgical intervention.
CaseNotHPOs: HP:0100006; HP:0000478; HP:0009726 (Neoplasm of the central nervous system, Abnormality of the eye, Renal neoplasm)
CaseNotHPOFreeText: Opthalmological examinations and imaging studies for lesions in the central nervous system, kidneys and organ systems failed to reveal any evidence of VHL syndrome.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: Table 1
Variant: Partial Deletion
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: deletion
CivicName: Null (Partial deletion)
MultipleGeneVariants: N/A