Case 12In 1993, a 39-yr-old female with recent onset of hypertension was diagnosed with a right pheochromocytoma. At age 36, a suspected left pheochromocytoma was noted by CT and increased urinary metanephrines was confirmed at age 39 by [123I]MIBG scintigraphy. This imaging showed in addition an uptake located in the neck. MRI confirmed a left adrenal tumor and a left 2-cm vagal paraganglioma that was removed and confirmed histopathologically. Genetic testing identified the VHL p.Tyr156Cys mutation. No other tumor of the VHL spectrum was discovered. Three of her four sons were found to carry the mutation. Clinical screening of all 3 disclosed a 2.4-cm abdominal paraganglioma in one of them but no lesion in the other brothers.
PatientID: 12
KindredID: 12
Case: F, 36Y0M, Ethnicity Unknown
DiseaseAssertion: assumed VHL
FamilyInfo: 3/4 of her sons also carried the mutation, one of which presented with a paraganglioma.
CohortInfo: An international consortium registered patients with head and neck paragangliomas with VHL or RET gene mutations.
CasePresentingHPOs: HP:0002668; HP:0006748; HP:0002886 (paraganglioma, adrenal pheochromocytoma, vagal paraganglioma)
CaseHPOFreeText: At 39Y (in 1993), she presented with recent onset of hypertension and was diagnosed with a right pheochromocytoma. (At age 36, a suspected left pheochromocytoma was noted by CT and confirmed at age 39 by [123I]MIBG scintigraphy). This imaging showed in addition an uptake located in the neck. MRI confirmed a left adrenal tumor and a left 2-cm vagal paraganglioma that was removed and confirmed histopathologically.
CaseNotHPOs: N/A
CaseNotHPOFreeText: No other tumor of the VHL spectrum was discovered.
CasePreviousTesting: RET
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.Y156C (c.467A>G)
LegacyVariant: p.Y156C
CaseProblemVariantFreeText: The publication only provides the p., the mutation was able to be deduced to p.Y156C (c.467A>G)
ClinVarID: 43600 https://www.ncbi.nlm.nih.gov/clinvar/variation/43600/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transition
CivicName: Y156C (c.467A>G)
MultipleGeneVariants: N/A