ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2019
Papillary craniopharyngioma in a 4-year-old girl with BRAF V600E mutation: a case report and review of the literature.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 40 citations in OpenAlex.
- Comparative analysis of clinical features, methylation and immune microenvironment in pediatric and adult papillary craniopharyngiomas: results from a multicenter study.Scientific reports · 2025Article
- Targeted therapy of papillary craniopharyngioma.Medical oncology (Northwood, London, England) · 2025Review
- Comprehensive Insights Into Pediatric Craniopharyngioma: Endocrine and Metabolic Profiles, Treatment Challenges, and Long-term Outcomes from a Multicenter StudyJournal of clinical research in pediatric endocrinology · 2024Article
- The Price of Success-The Long-Term Outcomes of Children with Craniopharyngioma-Two Institutions' Experience.Children (Basel, Switzerland) · 2023Article
- Neuroimaging of pediatric tumors of the sellar region-A review in light of the 2021 WHO classification of tumors of the central nervous system.Frontiers in pediatrics · 2023Review
- Review
- The Role of Surgical Approaches in the Multi-Modal Management of Adult Craniopharyngiomas.Current oncology (Toronto, Ont.) · 2022Review
- Immune infiltration in aggressive papillary craniopharyngioma: High infiltration but low action.Frontiers in immunology · 2022Article
- Neoadjuvant B-RAF and MEK Inhibitor Targeted Therapy for Adult Papillary Craniopharyngiomas: A New Treatment Paradigm.Frontiers in endocrinology · 2022Review
- Biochemical profile of paediatric adamantinomatous craniopharyngiomas: A prospective cohort study.Frontiers in surgery · 2022Article
- Papillary craniopharyngioma coexisting with an intratumoral abscess in a pediatric patient: A case report and review of the literature.Acta radiologica open · 2021Article
- Management of Craniopharyngiomas in the Era of Molecular Oncological Therapies: Not a Panacea.Journal of the Endocrine Society · 2021Review
- Multidisciplinary Therapy Managed Recurrent Glioblastoma in a BRAF-V600E Mutant Pregnant Female: A Case Report and Review of the Literature.Frontiers in oncology · 2020Article
- Craniopharyngioma.Nature reviews. Disease primers · 2019Review
- Advances in the management of craniopharyngioma in children and adults.Radiology and oncology · 2019Review
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Authors and funding
6 authors at 5 institutions in 1 country.
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Abstract
introductionCraniopharyngiomas are one of the most frequently diagnosed hypothalamo-pituitary tumors in childhood. The adamantinomatous histological subtype accounts for most pediatric cases, while the papillary variant is almost exclusively diagnosed in adults. Here, we report a case of papillary craniopharyngioma in a very young child, confirmed by molecular tissue analysis. CASE REPORT: A 4-year-old girl was being investigated for symptomatic central hypothyroidism. Brain MR imaging revealed a large solid/cystic suprasellar mass, splaying the optic chiasm and measuring 3 × 1.9 × 2.3 cm. The patient underwent a transsphenoidal near total resection of the lesion, which was encased within a tumor capsule. Post-operatively, the patient developed transient diabetes insipidus but otherwise recovered well. The pathology of the lesion was consistent with a papillary craniopharyngioma with regions of stratified squamous epithelium accompanied by superficial goblet cells and ciliated cells. Subsequent next-generation sequencing analysis of the lesion confirmed the presence of a BRAF V600E mutation (BRAFc.1799T>A p. (Val600Glu). To date, she remains free from progression 1 year following surgery.
conclusionThis is the youngest case published to date of papillary craniopharyngioma with a confirmed BRAF V600E mutation. The case encourages discussion about the most appropriate adjuvant therapy for tumor progression in such cases, given the risks of radiotherapy to the developing brain and the increasing availability of oral BRAF inhibitor therapy.
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