Clinical caseA 35-year-old African-American male with VHL syndrome presented with increasing nasal congestion and epistaxis. He had a past history of multiple benign CNS and visceral tumors from VHL syndrome and was known to harbor a pathogenic germline mutation in exon 3 of VHL, R161P (c.482G > C). Computed tomography (CT) imaging showed a right-sided nasal mass.Magnetic resonance imaging (MRI) further characterized a large enhancing mass extending through the right medial orbital wall with extraconal
PatientID: N/A
KindredID: 1
Case: M, 35Y0M, African American
DiseaseAssertion: VHL
FamilyInfo: No family information provided. Patient’s had previous genetic testing that confirmed his genetic variant.
CasePresentingHPOs: HP:0030072; HP:0010797 (Paranasal sinus neoplasm, hemangioblastoma)
CaseHPOFreeText: Patient with known VHL disease presented with Sinonasal renal cell-like adenocarcinoma (SNRCLA). He also had a history of multiple CNS and visceral tumors consistent with VHL disease.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.R161P (c.482G>C)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA351756111, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.482G%3EC
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transversion
CivicName: R161P (c.482G>C)
MultipleGeneVariants: Somatic, MSH6, c.1867C>G (p.Pro623Ala); Somatic, MST1R, (p.Val772Met); Somatic, PIK3C2B, (p.His660Arg)