Case Presentation: A 37 year old Caucasian male with past medical history of HTN who presented with complaints of episodic spells of excessive sweating, mood swing, hypertension, abdominal pain. He also had significant family history in grandmother who had adrenalctomy and his son diagnosed with Hypertension. His urine studies were negative for metanephrines and normetanephrines. CT scan showed 5.5 cm tumor on right adrenal gland and underwent successful right adrenalectomy. Pathology revealed pheochromocytoma. He was followed with biochemical test which were normal. Due to his diagnosis of pheochromocytoma at early age, genetic testing was ordered. Genetic testing showed positive for VHL gene mutation, with variant of p.Glu32Gly, Heterozygous, autosomal dominant considered to be unknown significance by the laboratory. This mutation has not been previously reported in HGMD database, nor in the Broad ExAc dataset indicating it is rare and not well-characterized. He later underwent MRI with contrast of brain, spine, abdomen and pelvis which showed no evidence of other tumors.
PatientID: N/A (case)
KindredID: 1
Case: M, 37Y0M, Ethnicity Unknown
DiseaseAssertion: adrenal pheochromocytoma
FamilyInfo: He had significant family history with his grandmother who had an adrenalctomy, and his son diagnosed with Hypertension. No genetic testing was described for them
CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)
CaseHPOFreeText: 37Y Caucasian male had a medical history of HTN and complained of excessive sweating, mood swing, hypertension, abdominal pain. CT scan showed 5.5 cm tumor on right adrenal gland and underwent successful right adrenalectomy. Pathology revealed pheochromocytoma.
CaseNotHPOs: N/A
CaseNotHPOFreeText: He underwent MRI with contrast of brain, spine, abdomen and pelvis which showed no evidence of other tumors.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.E32G (c.95A>G)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 186635 https://www.ncbi.nlm.nih.gov/clinvar/variation/186635/
CAID: N/A
gnomAD: 0.00002749 https://gnomad.broadinstitute.org/variant/3-10183626-A-G
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: N/A
MultipleGeneVariants: N/A