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  1. Last 7 days
  2. link.springer.com link.springer.com
    Laparoscopic Organ-Sparing Resection of Von Hippel-Lindau Disease-Associated Pancreatic Neuroendocrine Tumors
    1
    1. ClingenBaseline 26 Oct 2026
      A female patient presented with VHL disease at age 16, when a symptomatic left adrenal pheochromocytoma was diagnosed and removed laparoscopically. At age 28, a cystic cerebellar hemangioblastoma was removed. Molecular genetic testing revealed the mutation VHL c.500 G > A (p. R167Q).In 2010, she was admitted to the Freiburg Preventive Medicine Center. Baseline MRI detected multiple intraspinal hemangioblastomas associated with tumor cysts. Abdominal MRI also showed a 5.6 × 5.4 cm solid tumor in the pancreatic tail that was richly vascularized

      PatientID: 3

      KindredID: 3

      Case: F, 28Y0M, German

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748, HP:0006880, HP:0009713, HP:0030405, HP:0010302 (Adrenal pheochromocytoma, cerebellar hemangioblastoma, spinal hemangioblastoma, pancreatic endocrine tumour, spinal cord tumor)

      CaseHPOFreeText: At age 16 she presented with a left adrenal pheochromocytoma which was removed laparoscopically. At age 28, a cystic cerebellar hemangioblastoma was removed. In 2010, she was admitted to the Freiburg Preventive Medicine Center. Baseline MRI detected multiple intraspinal hemangioblastomas associated with tumor cysts. Abdominal MRI also showed a 5.6 × 5.4 cm solid tumor in the pancreatic tail that was richly vascularized. Three of eleven lymph nodes showed metastases.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:German DiseaseEntity:VHL NonFamilial DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:spinalcordtumor AgeOfPresentation:spinalcordtumor:28 AgeOfPresentation:adrenalpheochromocytoma:16 AgeOfPresentation:cerebellarhemangioblastoma:28 AgeOfPresentation:spinalhemangioblastoma:28 AgeOfPresentation:pancreaticendocrinetumor:28 AssumedRefSeq:NM_000551.3 MutationType:missense_variant;transition ProteinPosition:167 CivicName:R167Q(c.500G>A) cDNAposition:500 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s00268-010-0878-5
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and Laboratory Characteristics of a Large Iranian Kindred Afflicted with Von Hippel Lindau Disease
    1
    1. ClingenBaseline 26 Oct 2026
      All family members underwent clinical, laboratory, imaging, and genetic evaluation.

      PatientID: IV-28 [written in Table 2 as IV-24 - typo]

      KindredID: 1

      Case: F, 33Y0M, Iranian

      DiseaseAssertion: assumed VHL

      FamilyInfo: Familial history was positive. See Fig 1. A total of 43 members of the kindred, 24 males and 19 females, aged 2-77 years were reached for evaluation. It is stated in the paper that all affected subjects (13) were positive for the same mutation (c.500G>A). Additionally, gene sequencing revealed that 4 asymptomatic members of the kindred also harbored the pathogenic mutation, one of which was this patient who proved to be symptomatic. Phenotypes include pheochromocytoma, hemangioblastoma, and retinal HB.

      CasePresentingHPOs: HP:0011732; HP:0006880; HP:0010302 (abnormality of adrenal morphology, cerebellar hemangioblastoma, spinal cord tumor)

      CaseHPOFreeText: Originally thought to be an asymptomatic carrier, however after follow-up was found to be symptomatic: brain MRI revealed multiple tutors, including a frontal mass (cerebellar tumor) with multiple spinal lesions, and an abdominal CT showed a 1.6x1.7 right adrenal mass. Additionally, this patient was pregnant at the time, to which was terminated at the 38th week of gestation with a caesarian section. She has two other children already.

      CaseNotHPOs: HP:0000077 (abnormality of the kidney)

      CaseNotHPOFreeText: There was no case of kidney tumors among the kindred.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2216, https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977, https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 Ethnicity:Iranian DiseaseEntity:abnormalityofadrenalmorphology DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalcordtumor AgeOfPresentation:abnormalityofadrenalmorphology:33 AgeOfPresentation:spinalcordtumor:33 AgeOfPresentation:cerebellarhemangioblastoma:33 ProteinPosition:167 CivicName:R167Q(c.500G>A) cDNAposition:500 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:2216 ClinVarID:Yes Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/34149843/