3 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Robotic adrenalectomy in the pediatric population: initial experience case series from a tertiary center
    1
    1. ClingenBaseline 09 Nov 2026
      Case 2A 13-year-old male was noted to be intermittently tachycardic and hypertensive during hospitalization for a pneumonia episode, and found to have a 6 cm right adrenal mass on MRI (Fig. 2). Patient’s father has von Hippel-Lindau disease and had undergone bilateral adrenalectomy for pheochromocytoma and bilateral nephrectomy for renal cell carcinoma. A pathogenic VHL mutation (c.583C > T, p.Q195X) was found in the patient,

      PatientID: 1

      KindredID: 2

      Case: M, 14Y7M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s father has VHL disease and undergone bilateral adrenalectomy for pheochromocytoma and bilateral nephrectomy for renal cell carcinoma. His father has the same nonsense VHL mutation.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: At 13Y0M, patient 2 presented to the hospital with pneumonia and was noted as intermittently tachycardic and hypertensive. An MRI revealed an adrenal mass. Three weeks after detection a right adrenalectomy was performed. Patient remains disease-free at the 19 month post-operative follow-up.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q195* (c.583C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428794, https://www.ncbi.nlm.nih.gov/clinvar/variation/428794/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q195* (c.583C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:stop_gained AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:13 CivicName:Q195*(c.583C>T) cDNAPosition:583 ProteinPosition:195 AminoAcidChange:GLNtoTER ClinVarID:Yes ClinVarID:428794 Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7542890/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation
    1
    1. ClingenBaseline 06 Nov 2026
      Case 2This 10 year old girl presented with intermittent fever for the past one month. Her birth history was unremarkable. She was the fourth child of nonconsanguineous parents. Her family history was not significant for tumor occurrence. Physical examination revealed a blood pressure level of 160/100 mmHg (95p: 120/79 mmHg) and a heart rate of 110 beats per minute. Laboratory tests showed an elevated 24 h urinary VMA level of 83 mg/day. Abdominal MRI revealed a 44x33 mm, well circumscribed mass with a necrotic core in the left adrenal gland. Subtotal adrenalectomy was performed and histologic examination showed that the tumor was PCC. During two years of follow-up, a 20x19x12 mm mass was detected in the right adrenal gland on abdominal MRI. PET-computed tomography (CT) with 68Ga-DOTA‐DPhe1, Tyr3‐octreotate (68Ga- DOTATATE) showed increased uptake in the right adrenal gland and a 11x10 mm nodular lesion in the corpus of the pancreas (Figure 2). The tumoral masses in the adrenal gland and pancreas were removed. Histologic investigation of adrenal and pancreas specimens confirmed the diagnosis of PCC and PNET (World Health Organisation grade 3) respectively. One year later, an 8x7 mm lesion in the pancreas, compatible with recurrence, was observed on abdominal MRI and confirmed with 68 Ga-DOTATATE PET-CT. Splenectomy and subtotal pancreatectomy were performed for removal of the lesion. Histologic examination of the pancreatic lesion reported a neuroendocrine tumor. Bilateral PCC with PNET suggested the diagnosis of VHL disease. Molecular genetic analysis of the VHL gene revealed a heterozygous missense mutation c. 386 T>G (p.Leu129Pro) which has been previously described. No additional VHL tumor developed during three years follow up.

      PatientID: 2

      KindredID: 2

      Case: F, 13Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history was not significant for tumor occurrence.

      CohortInfo: Two cases of VHL disease in children, who presented with PCC as the first manifestation.

      CasePresentingHPOs: HP:0006748, HP:0030405 (Adrenal pheochromocytoma, pancreatic endocrine tumour)

      CaseHPOFreeText: At age 10, abdominal MRI revealed a 44x33 mm mass with a necrotic core in the left adrenal gland. Subtotal adrenalectomy was performed and histologic examination showed that the tumor was PCC. During two years of follow-up, a 20x19x12 mm mass was detected in the right adrenal gland and a 11x10 mm nodular lesion in the corpus of the pancreas which was found to be a pancreatic endocrine tumour. One year later, the pancreatic endocrine tumour reoccured.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129P (c.386T>C) *the cDNA change is misrecorded in the paper as 386T>G

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625242 https://www.ncbi.nlm.nih.gov/clinvar/variation/625242/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L129P (c.386T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL NonFamilial DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:adrenalpheochromocytoma:10 AgeOfPresentation:adrenalpheochromocytoma:12 AgeOfPresentation:pancreaticendocrinetumor:13 AgeOfPresentation:pancreaticendocrinetumor:12 cDNAposition:386 ProteinPosition:129 AminoAcidChange:LEUtoPRO ClinVarID:625242 MutationType:missense_variant;transition CivicName:L129P(c.386T>C) AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5985389/
  4. Nov 2026
  5. www.scholars.northwestern.edu www.scholars.northwestern.edu
    Pheochromocytoma and paraganglioma in the pediatric population
    1
    1. ClingenBaseline 02 Nov 2026
      Pheochromocytomas and paragangliomas are rare tumors in the pediatric population that arise from neural crest cells. Prompt recognition and treatment are necessary to limit morbidity. Compared to adults, pheochromocytoma and paraganglioma in children are more likely to be associated with an underlying genetic syndrome, and genetic testing should be pursued. These tumors can produce catecholamines and present with symptoms such as sweating, nausea, emesis, hypertension, or diarrhea, or they can be nonfunctional and present with symptoms related to mass effect. Evaluation is initiated with measurement of urine and plasma metanephrines and diagnosis confirmed with magnetic resonance imaging. Definitive treatment occurs via surgical excision. A multidisciplinary team specifically trained in the management of pediatric PHEO and PGL is necessary for optimal patient care.

      PatientID: 1 (case)

      KindredID: 1

      Case: M, 17Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: The patient’s father and paternal aunt both had a history of pheochromocytoma. No genetic testing for them was described.

      CasePresentingHPOs: HP:0006748; HP:0002668 (adrenal pheochromocytoma, paraganglioma)

      CaseHPOFreeText: Presented at 11Y with a 2-week history of nausea. He was noted to have tachycardia and a heart murmur, so an echocardiogram was obtained revealing moderate concentric hypertrophy and mildly decreased left ventricular systolic and diastolic dysfunction. An MRI of the abdomen revealed a 4.6 × 4.1 × 5.7 cm mass in the right adrenal gland and a 3.3 × 2.9 × 3.2 cm rounded lesion in the left adrenal gland. MIBG scan showed MIBG localization in bilateral retroperitoneal masses, compatible with bilateral pheochromocytoma. Patient underwent bilateral adrenalectomy. Two years later (13Y), imaging revealed a right paraspinal paraganglioma which was subsequently resected.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: An ophthalmology examination was notable only for hypertensive retinopathy.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84M (c.250G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428813, https://www.ncbi.nlm.nih.gov/clinvar/variation/428813/

      CAID: N/A

      gnomAD: 0.000004376, https://gnomad.broadinstitute.org/variant/3-10183781-G-A

      VariantEvidence: At the time of publication, the mutation had not been previously characterized however was clinically consistent with a diagnosis of VHL.

      MutationType: missense_variant;transition

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:paraganglioma AgeOfPresentation:adrenalpheochromocytoma:11 AgeOfPresentation:paraganglioma:13 cDNAposition:250 ProteinPosition:84 MutationType:missense_variant;transition AminoAcidChange:VALtoMET ClinVarID:428813 ClinVarID:Yes Familial CivicName:N/A inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    scholars.northwestern.edu/en/publications/pheochromocytoma-and-paraganglioma-in-the-pediatric-population