4 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Von Hippel-Lindau disease and aggressive GH-PRL pituitary adenoma in a young boy
    4
    1. ClingenBaseline 21 Oct 2026

      PatientID: None (Maternal Aunt)

      KindredID: 1

      Case: F, 30Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Look to proband for more information on family history.

      CasePresentingHPOs: HP:0006880; HP:0009711 (Cerebellar hemangioblastoma, Retinal capillary hemangioma)

      CaseHPOFreeText: Cerebellar/cerebral trunk hemangioblastoma. Multiple retinal hemangioblastomas.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 25494863

      SupplementalData: Figure 1

      Variant: p.G114R (c.340G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223193, https://www.ncbi.nlm.nih.gov/clinvar/variation/223193/

      CAID: N/A

      gnomAD:

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G114R (c.340G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pituitaryadenoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:340 ProteinPosition:114 AminoAcidChange:GLYtoARG ClinVarID:223193 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:G114R(c.340G>C) FamilyPedigree Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      We report the case of a 15-year-old boy with the diagnosis of aggressive GH-PRL pituitary macroadenoma and a family history of VHL disease. Pituitary resection was performed, although complete excision of the lesion could not be confirmed by the neurosurgeon. A control MRI was done 6 months after surgery and the pituitary lesion was similar to the presurgical image. A second operation allowed partial resection of the tumour followed by targeted radiotherapy.

      PatientID: None (Proband)

      KindredID: 1

      Case: M, 18Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The family history revealed VHL in his mother, who died at the age of 40, and in his maternal aunt and grandmother, deceased at 30 and 33 years, respectively. His mother was operated on three times for cerebellar hemangioblastomas, the first at 13 years of age. She had also been treated for bilateral retinal hemangioblastomas since the age of 19. In addition, she had surgery for a renal tumor at the age of 32 and also had pancreatic cysts. She died of the diffuse hemangioblastomas in the posterior fossa. Variant is stated to be previously identified in the family but it is not clear which members have been genetically tested.

      CasePresentingHPOs: HP:0006880; HP:0002893; HP:0007663; HP:0001510; HP:0000823; HP:0009711 (Cerebellar hemangioblastoma, Pituitary adenoma, Reduced visual acuity, Growth delay, Delayed puberty, Retinal capillary hemangioma)

      CaseHPOFreeText: Referred at the age of 15 for decreased visual acuity of the right eye. Growth failure with short stature for age and lack of pubertal development was noted. This was confirmed by ophthal-mologic examination which also showed bitemporal quadranopsia. Two retinal vascular lesions had already been diagnosed and photocoagulated. Cerebral MRI examination visualized a voluminous pituitary adenoma (confirmed pathologically) with suprasellar extension compressing the optic fibres invading both cavernous sinuses. It also confirmed two small cerebellar hemangioblastomas. On follow-up, MRI showed a persistent pituitary adenoma (confirmed by pathology) with numerous mitoses. A cystic part of the main hemangioblastoma was also noted in the right cerebellum image.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: No renal lesion was found on ultrasound examination. Renal ultrasound examination was persistently normal.

      CasePreviousTesting: N/A

      PreviouslyPublished: 25494863

      SupplementalData: Figure 1

      Variant: p.G114R (c.340G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223193, https://www.ncbi.nlm.nih.gov/clinvar/variation/223193/

      CAID: N/A

      gnomAD:

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G114R (c.340G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pituitaryadenoma DiseaseEntity:reducedvisualacuity DiseaseEntity:growthdelay DiseaseEntity:delayedpuberty AgeOfPresentation:reducedvisualacuity:15 AgeOfPresentation:delayedpuberty:15 AgeOfPresentation:growthdelay:15 AgeOfPresentation:pituitaryadenoma:15 AgeOfPresentation:cerebellarhemangioblastoma:15 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:340 ProteinPosition:114 AminoAcidChange:GLYtoARG ClinVarID:223193 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:G114R(c.340G>C) FamilyPedigree Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    3. ClingenBaseline 21 Oct 2026

      PatientID: None (Maternal Aunt)

      KindredID: 1

      Case: F, 30Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Look to proband for more information on family history.

      CasePresentingHPOs: HP:0006880; HP:0009711 (Cerebellar hemangioblastoma, Retinal capillary hemangioma)

      CaseHPOFreeText: Cerebellar/cerebral trunk hemangioblastoma. Multiple retinal hemangioblastomas.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 25494863

      SupplementalData: Figure 1

      Variant: p.G114R (c.340G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223193, https://www.ncbi.nlm.nih.gov/clinvar/variation/223193/

      CAID: N/A

      gnomAD:

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G114R (c.340G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pituitaryadenoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:340 ProteinPosition:114 AminoAcidChange:GLYtoARG ClinVarID:223193 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:G114R(c.340G>C) FamilyPedigree Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    4. ClingenBaseline 21 Oct 2026
      We report the case of a 15-year-old boy with the diagnosis of aggressive GH-PRL pituitary macroadenoma and a family history of VHL disease. Pituitary resection was performed, although complete excision of the lesion could not be confirmed by the neurosurgeon. A control MRI was done 6 months after surgery and the pituitary lesion was similar to the presurgical image. A second operation allowed partial resection of the tumour followed by targeted radiotherapy.

      PatientID: None (Proband)

      KindredID: 1

      Case: M, 18Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The family history revealed VHL in his mother, who died at the age of 40, and in his maternal aunt and grandmother, deceased at 30 and 33 years, respectively. His mother was operated on three times for cerebellar hemangioblastomas, the first at 13 years of age. She had also been treated for bilateral retinal hemangioblastomas since the age of 19. In addition, she had surgery for a renal tumor at the age of 32 and also had pancreatic cysts. She died of the diffuse hemangioblastomas in the posterior fossa. Variant is stated to be previously identified in the family but it is not clear which members have been genetically tested.

      CasePresentingHPOs: HP:0006880; HP:0002893; HP:0007663; HP:0001510; HP:0000823; HP:0009711 (Cerebellar hemangioblastoma, Pituitary adenoma, Reduced visual acuity, Growth delay, Delayed puberty, Retinal capillary hemangioma)

      CaseHPOFreeText: Referred at the age of 15 for decreased visual acuity of the right eye. Growth failure with short stature for age and lack of pubertal development was noted. This was confirmed by ophthal-mologic examination which also showed bitemporal quadranopsia. Two retinal vascular lesions had already been diagnosed and photocoagulated. Cerebral MRI examination visualized a voluminous pituitary adenoma (confirmed pathologically) with suprasellar extension compressing the optic fibres invading both cavernous sinuses. It also confirmed two small cerebellar hemangioblastomas. On follow-up, MRI showed a persistent pituitary adenoma (confirmed by pathology) with numerous mitoses. A cystic part of the main hemangioblastoma was also noted in the right cerebellum image.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: No renal lesion was found on ultrasound examination. Renal ultrasound examination was persistently normal.

      CasePreviousTesting: N/A

      PreviouslyPublished: 25494863

      SupplementalData: Figure 1

      Variant: p.G114R (c.340G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223193, https://www.ncbi.nlm.nih.gov/clinvar/variation/223193/

      CAID: N/A

      gnomAD:

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G114R (c.340G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pituitaryadenoma DiseaseEntity:reducedvisualacuity DiseaseEntity:growthdelay DiseaseEntity:delayedpuberty AgeOfPresentation:reducedvisualacuity:15 AgeOfPresentation:delayedpuberty:15 AgeOfPresentation:growthdelay:15 AgeOfPresentation:pituitaryadenoma:15 AgeOfPresentation:cerebellarhemangioblastoma:15 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:340 ProteinPosition:114 AminoAcidChange:GLYtoARG ClinVarID:223193 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:G114R(c.340G>C) FamilyPedigree Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/22265326/