Patients with ELSTs were identified and included in the International Endolymphatic Sac Tumor Registry. The registry contained 93 patients as of July 2014, and of those, 25 were sporadic, and 68 associated with VHL. Patients with ELSTs and clinically confirmed diagnoses of VHL were included in this study. Statistics of this VHL subgroup are as follows: mean age 30, 62% female, 91% symptomatic, 54% with retinal angioma, 72% with CNS hemangioblastoma, 46% with renal cell carcinoma, 19% with pheochromocytoma, and 12% with pancreatic neuroendocrine tumour. In the data from this study, only endolymphatic sac tumours can be confirmed as a phenotype for this mutation (c.256C>G), which was found in 1 individual from Italy.


GroupID: 5

Case: Sex unknown, Age unknown, Italian

DiseaseAssertion: VHL

FamilyInfo: Unknown. 1 registrant was found with this variant; no family info was mentioned

CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P86A (c.256C>G)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 93327 https://www.ncbi.nlm.nih.gov/clinvar/variation/93327/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: P86A (c.256C>G)

MultipleGeneVariants: N/A

Medical records of 45 Italian patients with pheochromocytoma/paraganglioma referred to the hypertension centers of the University of Brescia and the University of Turin were reviewed. Germline DNA was extracted through peripheral blood, and PCR products were purified. Only familial and sporadic cases of isolated PHEO/PGL were considered. Patient number 9 was found with a germline VHL mutation (p.P86A) and adrenal bilateral pheochromocytoma, apparently sporadic. This patient was reported to have a negative family history. ACMG: PP4

PatientID: IV-12

KindredID: 1

Case: F, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: The proband (V-5), his mother (IV-8), maternal grandmother (III-6), maternal aunts (IV-10, IV-12), cousin (V-9) and brother (V-6) were found to harbour the VHL mutation p.P86A (c.256 C>G). All were symptomatic of VHL except for his cousin.

CasePresentingHPOs: HP:0010797, HP:0009711; HP:0001737; HP:0000107; HP:0030405, HP:0030393 (Hemangioblastoma, Retinal capillary hemangioma, Pancreatic cysts, Renal cyst, Pancreatic endocrine tumor, Endolymphatic sac tumor)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 7728151(family 4416); 20375333

SupplementalData: Information obtained from Figure 1.

Variant: p.P86A (c.256 C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 93327, https://www.ncbi.nlm.nih.gov/clinvar/variation/93327/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: P86A (c.256C>G)

MultipleGeneVariants: N/A