PatientID: 1 (case)
KindredID: 1
Case: F, 37Y0M, Ethnicity Unknown
DiseaseAssertion: adrenal pheochromocytoma
FamilyInfo: Her one sister had died just after delivery, following a severe hypertensive crisis. Her 26-year-old niece presented with a 3 cm left adrenal tumor, an 8 cm pancreatic tumor and disseminated hepatic metastasis, evolving to death within a few months. Her liver biopsy was compatible with a moderately differentiated neuroendocrine carcinoma of uncertain origin. Molecular diagnosis was not performed in the affected sister and niece. Her asymptomatic 5Y old daughter tested positive for the mutation: Q164R (c.491A<G).
CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)
CaseHPOFreeText: She first presented with paroxisms of severe hypertension associated with headaches, diaphoresis and, ocasionally, fainting, started one year before. She had had acute pulmonary edema and a cardiorespiratory arrest during her first caesarean section. A CT scan revealed a right adrenal tumor (6.0 cm), showing increased 123I-MIBG uptake. After conventional adrenalectomy, a PHEO was immunohistochemically confirmed. Close follow-up has shown no signs of recurrence or evidence of new tumors.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.Q164R (c.491A>G)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 2238 https://www.ncbi.nlm.nih.gov/clinvar/variation/2238/
CAID: N/A
gnomAD: N/A
VariantEvidence: To date, this germline VHL mutation was said to have been described in only 3 cases, with variable phenotypes, and in 2 cases PHEO occurred at a very young age.
MutationType: missense_variant;transition
CivicName: N/A
MultipleGeneVariants: N/A