PatientID: 12

KindredID: 12

Case: F, 36Y0M, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: 3/4 of her sons also carried the mutation, one of which presented with a paraganglioma.

CohortInfo: An international consortium registered patients with head and neck paragangliomas with VHL or RET gene mutations.

CasePresentingHPOs: HP:0002668; HP:0006748; HP:0002886 (paraganglioma, adrenal pheochromocytoma, vagal paraganglioma)

CaseHPOFreeText: At 39Y (in 1993), she presented with recent onset of hypertension and was diagnosed with a right pheochromocytoma. (At age 36, a suspected left pheochromocytoma was noted by CT and confirmed at age 39 by [123I]MIBG scintigraphy). This imaging showed in addition an uptake located in the neck. MRI confirmed a left adrenal tumor and a left 2-cm vagal paraganglioma that was removed and confirmed histopathologically.

CaseNotHPOs: N/A

CaseNotHPOFreeText: No other tumor of the VHL spectrum was discovered. 

CasePreviousTesting: RET

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Y156C (c.467A>G)

LegacyVariant: p.Y156C

CaseProblemVariantFreeText: The publication only provides the p., the mutation was able to be deduced to p.Y156C (c.467A>G)

ClinVarID: 43600 https://www.ncbi.nlm.nih.gov/clinvar/variation/43600/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: Y156C (c.467A>G)

MultipleGeneVariants: N/A

Twelve patients with hereditary non-SDHx head and neck paragangliomas were analyzed. Eleven of the 12 patients were found to carry germline mutations in the VHL gene. Blood was used for molecular genetic analyses and the NM_000551.2 reference sequence was used. The 39 year old female proband was found to harbour the p.Y156C (c.467A>G) mutation of the VHL gene. She presented with recent onset of hypertension and was diagnosed with a right pheochromocytoma. At age 36, a suspected left pheochromocytoma was noted by CT and increased urinary metanephrines was confirmed at age 39 by MIBG scintigraphy. This imaging showed in addition an uptake located in the neck. MRI confirmed a left adrenal tumor and a left 2cm vagal paraganglioma that was removed and confirmed histopathologically. No other tumor of the VHL spectrum was discovered. Three of her four sons were found to carry the mutation and all underwent clinical screening. One of these sons presented with a 2.4cm abdominal paraganglioma.

PatientID: V265

KindredID: V265

Case: Sex Unknown, Age Unknown, French

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Diagnosed with VHL Type 1.

CaseNotHPOs: HP:0002666 (Pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Y156C (c.467A>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 43600, https://www.ncbi.nlm.nih.gov/clinvar/variation/43600/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: Y156C (c.467A>G)

MultipleGeneVariants: N/A

PatientID: 1

KindredID: 1

Case: M, 13Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: No family history

CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

CaseHPOFreeText: Bilateral Pheochromocytoma

CaseNotHPOs: N/A

CaseNotHPOFreeText: no other endocrine tumours

CasePreviousTesting: SDHB, SDHD, SDHC, RET

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Y156C (c.467A>G)

LegacyVariant: N/A

ClinVar: 43600 https://www.ncbi.nlm.nih.gov/clinvar/variation/43600/

CAID: CA020394 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA020394

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: Y156C(c.467A>G)

MultipleGeneVariants: N/A