Case 2An asymptomatic 29-yr-old man was offered VHL-specific clinical surveillance due to a family history of known VHL and genetic testing that revealed carriership for the family-specific VHL mutation. MRI of the brain showed, surprisingly, a pituitary tumor. Further work-up showed hyperprolactinemia and thus biochemical evidence for a prolactinoma. He was treated with bromocriptine for 5 yr. At age 34, he reported a painful swelling on his left neck where a mass was palpable. Computed tomography (CT) disclosed a left carotid body tumor that was resected. At age 41, multiple pancreatic cysts were detected and a left kidney cancer that was resected and showed histologically a clear cell carcinoma. The father and two brothers have been treated for multiple retinal, cerebellar, and spinal cord hemangioblastomas. Molecular genetic testing of the patient detected the family-specific VHL mutation p.Leu135X.
PatientID: 2
KindredID: 2
Case: M, 41Y0M, Ethnicity Unknown
DiseaseAssertion: assumed VHL
FamilyInfo: Positive family history. He was offered clinical surveillance due to a family history of known VHL and genetic testing that revealed him positive for the family-specific VHL mutation. The father and two brothers have been treated for multiple retinal, cerebellar, and spinal cord hemangioblastomas, although it did not clearly state whether they all carried the mutation.
CohortInfo: An international consortium registered patients with head and neck paragangliomas with VHL or RET gene mutations.
CasePresentingHPOs: HP:0040277; HP:0002668; HP:0001737; HP:0006770 (neoplasm of the pituitary gland, paraganglioma, pancreatic cyst, clear cell renal cell carcinoma)
CaseHPOFreeText: Originally asymptomatic at age 29Y, clinical surveillance revealed a pituitary tumor. At age 34, he had painful swelling on left neck where a mass was found, and CT disclosed a left carotid body tumor (paraganglioma)(later resected). At age 41, multiple pancreatic cysts were detected and a left kidney cancer that was resected (histologically showed clear cell carcinoma).
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: RET
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.L135 (c.404T>A) OR p.L135 (c.404T>G)
CaseProblemVariantFreeText: As the publication only provides the p., the exact mutation is not known. p.L135* can translate to either c.404T>A or c.404T>G
LegacyVariant: N/A
ClinVarID:
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: stop_gained
CivicName: N/A
MultipleGeneVariants: N/A