Hypothesis

Case 2 A 41-year-old male patient was admitted to the Department of Ophthalmology and Endocrinology at the Affiliated Hospital of Zunyi Medical College between 24 September and 5 October 2014 due to blurred vision and elevated blood glucose level. During hospital admission, adrenal masses were identified on the left and right sides, and the patient was transferred to the Department of Urology on 23 October 2014. Vision was lost in the right eye due to a previous injury. The patient had hypertension and diabetes for >2 months. In September 2010, the patient underwent resection of the lesions in the right cerebellar hemisphere. Postoperative pathological analysis confirmed that the lesion was a hemangioblastoma. The mother of the patient was deceased, and the cause was unknown. The mother exhibited a brain tumor and coronary heart disease whilst alive. Multiple nodules were detected in the thyroid gland of the patient's eldest sister (II-1), but were not treated. The rest of the family members were healthy.

PatientID: II-4

KindredID: 2

Case: M, 41Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: The mother of the patient (I-2) was deceased, and the cause was unknown. The mother exhibited a brain tumor and coronary heart disease whilst alive. Multiple nodules were detected in the thyroid gland of the patient's eldest sister (II-1), but were not treated. The rest of the family members were healthy. One of the proband's sisters (II-2) and a brother (II-3) were found to carry the mutation. See Figure 2 for family pedigree.

CasePresentingHPOs: HP:0000819, HP:0000822, HP:0010797, HP:0006748, HP:0002666, HP:0006744 (Diabetes mellitus, hypertension, hemangioblastoma, adrenal pheochromocytoma, pheochromocytoma, adrenocortical carcinoma)

CaseHPOFreeText: A 41-year-old male patient was admitted due to blurred vision and elevated blood glucose level. Vision was lost in the right eye due to a previous injury. The patient had hypertension and diabetes for >2 months.CT scan showing nodules in the left and right adrenal glands. Low-density areas and calcification shadows are also observable. A contrast-enhanced scan revealed that the solid portion of the mass was markedly enhanced, but the cystic region was not enhanced. CT scan indicating cystic lesions or malacia in the right cerebellar hemisphere. The right occipital bone was altered following surgery.Postoperative abdominal CT indicating an irregular mass (~92×73×105 mm) in the right adrenal gland, which appeared to be pheochromocytoma and adrenal carcinoma. The left adrenal gland was altered following surgery. CT scan revealing multiple metastases in the left and right lungs.

CaseNotHPOs: N/A

CaseNotHPOFreeText: No abnormality was observed in the heart, lung or abdomen.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R167W (c.499C>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 2218 https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

CAID: N/A

gnomAD: 0.000007954 https://gnomad.broadinstitute.org/variant/3-10191506-C-T

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R167W (c.499C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL Ethnicity:Chinese Familial FamilyPedigree DiseaseEntity:Diabetesmellitus AgeOfPresentation:Diabetesmellitus:41 DiseaseEntity:hypertension AgeOfPresentation:hypertension:41 DiseaseEntity:hemangioblastoma AgeOfPresentation:Hemangioblastoma:41 DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:41 DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:41 DiseaseEntity:adrenocorticalcarcinoma AgeOfPresentation:adrenocorticalcarcinoma:41 cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP ClinVarID:2218 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R167W(c.499C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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