Hypothesis

Case description: A suprasellar mass was found in a 33-year-old woman with retinal HBL and bilateral adrenal pheochromocytomas. The diagnosis of von Hippel-Lindau (VHL) disease was confirmed preoperatively not only by these clinical manifestations but also by germline mutation study. The existence of VHL disease indicated a diagnosis of HBL for the suprasellar mass. The results of our mutation study indicated that this patient had type II VHL disease, suggesting that careful follow-up is essential for the early detection of renal cell carcinoma, which is often associated with type II VHL disease. Here, we summarize the previously reported features of sellar and suprasellar HBLs.

PatientID: 1

KindredID: 1

Case: F, 33Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: her younger sister had previously undergone surgery for bilateral adrenal pheochromocytomas, a hereditary disease was suspected. No familial testing was provided

CasePresentingHPOs: HP:0006748; HP:0009711; HP:0010797; HP:0040277; HP:0009713 (adrenal pheochromocytoma; retinal capillary hemangioma; hemangioblastoma; Neoplasm of the pituitary gland; spinal hemangioblastoma)

CaseHPOFreeText: With a 10-year history of irregular menstruation, developed abdominal pain, she was found to have bilateral adrenal lesions which were subsequently removed and confirmed to be bilateral adrenal pheochromocytomas. Later, a suprasellar mass was found in a this patient with retinal HB. The diagnosis of von Hippel–Lindau (VHL) disease was confirmed preoperatively not only by these clinical manifestations but also by germline mutation study. The existence of VHL disease indicated a diagnosis of HB for the suprasellar mass.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161Q (c.482G>A)

LegacyVariant: c.695G>A

CaseProblemVariantFreeText: N/A

ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R161Q (c.482G>A)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:neoplasmofthepituitarygland DiseaseEntity:spinalhemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 Familial CivicName:R161Q(c.482G>A) cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:182983 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

Tags

Annotators

URL