Patient 2 A 17-year-old girl with a history of primitive headache, intense nocturnal sweating and 2-month-long amenorrhoea and elevated blood pressure presented a 7-cm-diameter right adrenal mass at abdominal sonography, confirmed by MRI. The mass showed inhomogeneous density: hypodensity in T1 and hyperdensity in T2 and after Gadolinium contrast. Immunometric assays indicated very high levels of chromogranin A (242 UI/L; NR 2–18) and catecholamines: noradrenaline levels were 14·460 nmol/day (NR: 90–470), and adrenaline and dopamine levels were in the normal range. A 123I-MIBG scintigraphy showed a high tracer uptake in right adrenal gland, as expected. The patient underwent surgical removal of the mass, which was 8 × 6 × 5 cm in size. Immunohistochemical assays indicated that the tumour was positive for chromogranin A and synaptophysin, compatible with a diagnosis of PHEO. Follow-up blood test after 2 years was within normal limits, except for a still moderate elevated CgA (67 UI/L, NR 2–18). The family history was negative for PHEO or other neuroendocrine tumours.
PatientID: 2
KindredID: 2
Case: F, 17Y0M, Ethnicity Unknown
DiseaseAssertion: adrenal pheochromocytoma
FamilyInfo: None - The family history was negative for PHEO or other neuroendocrine tumours. Their parents however, decided not to be tested neither to extend the test to other family members
CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)
CaseHPOFreeText: Apparently sporadic pheo. She had a history of primitive headache, intense nocturnal sweating and 2-month-long amenorrhoea and elevated blood pressure presented a 7-cm-diameter right adrenal mass at abdominal sonography, confirmed by MRI.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: RET, SDHB, SDHD
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.D197N (c.589G>A)
LegacyVariant: p.D197N (g.13,278)
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA351756524 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.589G%3EA
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: D197N (c.589G>A)
MultipleGeneVariants: N/A