Case 2 was a 7-yr-old boy, diagnosed with a malignant sympathetic paraganglioma in the retroperitoneum with regional lymph node metastases, who presented with a parasympathetic paraganglioma of the left carotid body 8 yr later. Genetic testing revealed the VHL p.Tyr98His mutation, which has also been described previously (15). In addition hemangioblastomas and pheochromocytomas were found in family members.
PatientID: 2
KindredID: 2
Case: M, 15Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Family history revealed hemangioblastomas and pheochromocytomas.
CohortInfo: Two patients with parasympathetic paraganglioma, previously published in 19336503 were studied.
CasePresentingHPOs: HP:0002668 (paraganglioma)
CaseHPOFreeText: At age 7, the patient had a malignant sympathetic paraganglioma in the retroperitoneum with regional lymph node metastases. Eight years later, the patient presented with a parasympathetic paraganglioma of the left carotid body.
CaseNotHPOs: N/A
CaseNotHPOFreeText: No other tumours were found.
CasePreviousTesting: SDHB/SDHC/SDHD
PreviouslyPublished: 19336503
SupplementalData: N/A
Variant: p.Y98H (c.292T>C)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVarID: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/
CAID: N/A
gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C
VariantEvidence: Case 2 showed LOH for markers D3S1597 and D3S1263 and was homozygous (not informative) for marker D3S1435.
MutationType: missense_variant; transition
CivicName: Y98H (c.292T>C)
MultipleGeneVariants: N/A