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    Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2
    1
    1. ClingenBaseline 02 Nov 2026
      A 23-yr-old asymptomatic female presented with a palpable mass on the left side of the neck during a routine check-up for her VHL p.Arg64Pro family-specific mutation, already previously identified in this patient’s family. No other clinical manifestations had been detected until then. Somatostatin receptor scintigraphy revealed a hotspot near the left carotid artery, indicating a paraganglioma. No hypertension or increase in catecholamines was observed. The removed 2.5-cm tumor was histopathologically a paraganglioma. At age 33, there was no recurrence, nor did the patient have other tumors. Interestingly, the VHL disease had a heterogeneous presentation in the family, with bilateral pheochromocytomas and clear cell renal carcinoma as the initial presentation in the father. In addition, the patient’s son underwent a unilateral adrenalectomy for pheochromocytoma at the age of 7.

      PatientID: 4

      KindredID: 4

      Case: F, 23Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient had a family specific p.Arg64Pro mutation, and VHL disease had a heterogeneous presentation in the family. The patient’s father initially presented with bilateral pheochromocytomas and clear cell renal carcinoma, and the patient’s son underwent unilateral adrenalectomy for pheochromocytoma at the age of 7.

      CasePresentingHPOs: HP:0002668 (Paraganglioma)

      CaseHPOFreeText: The patient was asymptomatic and presented with a palpable mass on the left side of the neck during a routine check-up. Somatostatin receptor scintigraphy revealed a hotspot near the left carotid artery, which indicated a paraganglioma. The paraganglioma was 2.5cm in size, and histological examination of it post-resection confirmed it was a paraganglioma. The patient did not present with any later tumors, although the length of follow-up is not specified.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R64P (c.191G>C)

      ClinVarID: 2226, https://www.ncbi.nlm.nih.gov/clinvar/variation/2226/

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R64P(c.191G>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:paraganglioma AgeOfPresentation:paraganglioma:23 Mutation:Germline cDNAposition:191 ProteinPosition:64 AminoAcidChange:ARGtoPRO ClinVarID:Yes ClinVarID:2226 MutationType:missense_variant;transversion Familial CivicName:R64P(c.191G>C) InheritancePattern:AutosomalDominant RefSeq:NM_000551.2 DiseaseEntity:VHL inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2690424/