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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2
    2
    1. ClingenBaseline 23 Oct 2026
      Case 7In 1980, a 15-yr-old girl with a familial history of VHL presented with loss of visual acuity leading to the diagnosis of bilateral retinal hemangioblastomas followed by laser and cryotherapy. However, outcome was unilateral blindness. Furthermore, the patient was then operated three times for CNS hemangioblastomas between ages 18 and 24. At age 26, she presented with a palpable lateral neck mass. CT of the head and neck revealed a 3-cm carotid body tumor. The tumor was removed, and histology showed a paraganglioma. Molecular genetics identified the VHL germline mutation p.Thr105Pro.

      PatientID: 7

      KindredID: 7

      Case: F, 26Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Positive family history of VHL.

      CohortInfo: An international consortium registered patients with head and neck paragangliomas with VHL or RET gene mutations.

      CasePresentingHPOs: HP:0000618; HP:0009711; HP:0010797; HP:0002668 (blindness, retinal capillary hemangioma, hemangioblastoma, paraganglioma)

      CaseHPOFreeText: At 15Y she presented with loss of visual acuity, leading to the diagnosis of bilateral retinal hemangioblastomas (treated with laser and cryotherapy), with the outcome of unilateral blindness. The patient was then operated 3 times for CNS hemangioblastomas between ages 18 and 24. At age 26, she presented with a palpable lateral neck mass. CT of the head and neck revealed a 3-cm carotid body tumor (paraganglioma).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T105P (c.313A>C)

      LegacyVariant: p.T105P

      CaseProblemVariantFreeText: As the publication only provides the p., the mutation was deduced to p.T105P (c.313A>C)

      ClinVarID: 496055 https://www.ncbi.nlm.nih.gov/clinvar/variation/496055/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: T105P (c.313A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.2 Familial DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:15 DiseaseEntity:hemangioblastoma DiseaseEntity:paraganglioma AgeOfPresentation:hemangioblastoma:18 AgeOfPresentation:paraganglioma:26 PreviousTesting:RET ProteinPosition:105 cDNAposition:313 CivicName:T105P(c.313A>C) AminoAcidChange:THRtoPRO MutationType:missense_variant;transversion ClinVarID:496055 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026
      Case 11In 1978, an 8-yr-old girl without familial history of VHL was operated for a right pheochromocytoma and at age 13 for a contralateral pheochromocytoma. At age 15, a 4-cm mass at the neck was diagnosed by selective arteriography as a carotid paraganglioma that was removed and histologically confirmed. The patient was then operated twice for cerebellar hemangioblastoma at age 22, leading to the diagnosis of VHL disease. At age 27, the patient was operated again for a retrocaval pheochromocytoma and for islet cell tumors. The patient was also repeatedly treated for bilateral retinal hemangioblastomas leading to blindness at age 32. At age 36, again a pheochromocytoma was removed. Molecular genetic analysis identified the p.Thr157Ile VHL germline mutation. So far, there are no affected relatives.

      PatientID: 11

      KindredID: 11

      Case: F, 36Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: There was said to be, at the time, no affected relatives

      CohortInfo: An international consortium registered patients with head and neck paragangliomas with VHL or RET gene mutations.

      CasePresentingHPOs: HP:0006748; HP:0002668; HP:0006476; HP:0006880; HP:0009711; HP:0000618; HP:0010797 (adrenal pheochorocytoma, paraganglioma, abnormality of the pancreatic islet cells, cerebellar hemangioblastoma, retinal capillary hemangioblastoma, blindness, hemangioblastoma)

      CaseHPOFreeText: At 8Y, (in 1978), she was operated for a right pheochromocytoma; at age 13 for a contralateral pheochromocytoma; at age 15, for a 4-cm mass at the neck was diagnosed by selective arteriography as a carotid paraganglioma. The patient was then operated twice for cerebellar hemangioblastoma at age 22, leading to the diagnosis of VHL disease. At age 27, the patient was operated again for a retrocaval pheochromocytoma and for islet cell tumors. The patient was also repeatedly treated for bilateral retinal hemangioblastomas leading to blindness at age 32. At age 36, again a pheochromocytoma was removed

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T157I (c.470C>T)

      LegacyVariant: p.T157I

      CaseProblemVariantFreeText: The publication only provides the p., the mutation was able to be deduced to p.T157I (c.470C>T)

      ClinVarID: 223223 https://www.ncbi.nlm.nih.gov/clinvar/variation/223223/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: T157I (c.470C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Familial DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:abnormalityofthepancreaticisletcells DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:blindness DiseaseEntity:hemangioblastoma AgeOfPresentation:pheochromocytoma:8 AgeOfPresentation:paraganglioma:15 AgeOfPresentation:cerebellarhemangioblastoma:22 AgeOfPresentation:abnormalityofthepancreaticisletcells:27 AgeOfPresentation:retinalcapillaryhemangioma:32 PreviousTesting:RET CivicName:T157I(c.470C>T) cDNAposition:470 ProteinPosition:157 AminoAcidChange:THRtoILE MutationType:missense_variant;transition ClinVarID:223223 ClinVarID:Yes RefSeq:NM_000551.2 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2690424/
  3. academic.oup.com academic.oup.com
    Parasympathetic Paragangliomas Are Part of the Von Hippel-Lindau Syndrome
    1
    1. ClingenBaseline 22 Oct 2026
      Case 2 was a 7-yr-old boy, diagnosed with a malignant sympathetic paraganglioma in the retroperitoneum with regional lymph node metastases, who presented with a parasympathetic paraganglioma of the left carotid body 8 yr later. Genetic testing revealed the VHL p.Tyr98His mutation, which has also been described previously (15). In addition hemangioblastomas and pheochromocytomas were found in family members.

      PatientID: 2

      KindredID: 2

      Case: M, 15Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history revealed hemangioblastomas and pheochromocytomas.

      CohortInfo: Two patients with parasympathetic paraganglioma, previously published in 19336503 were studied.

      CasePresentingHPOs: HP:0002668 (paraganglioma)

      CaseHPOFreeText: At age 7, the patient had a malignant sympathetic paraganglioma in the retroperitoneum with regional lymph node metastases. Eight years later, the patient presented with a parasympathetic paraganglioma of the left carotid body.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: No other tumours were found.

      CasePreviousTesting: SDHB/SDHC/SDHD

      PreviouslyPublished: 19336503

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: N/A

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: Case 2 showed LOH for markers D3S1597 and D3S1263 and was homozygous (not informative) for marker D3S1435.

      MutationType: missense_variant; transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:Paraganglioma Mutation:Germline Familial AgeofPresentation:Paraganglioma:7 AgeofPresentation:Paraganglioma:15 PreviousTesting:SDHB/SDHD/SDHC ProteinPosition:98 CivicName:Y98H(c.292T>C) cDNAposition:292 AminoAcidChange:TYRtoHIS ClinVarID:2223 ClinVarID:Yes MutationType:missense_variant;transition RefSeq:NM_000551.2 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/94/11/4367/2596649