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 reportA 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 Ă 1.9 Ă 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.
Highlights
Craniopharyngiomas are one of the most frequently diagnosed hypothalamo-pituitary tumors in childhood
Adamantinomatous craniopharyngiomas account for most pediatric cases [23]
Squamous papillary craniopharyngiomas are almost exclusive to adults
Summary
This case represents the youngest patient reported to date with a papillary craniopharyngioma that has been validated by molecular analysis, revealing a BRAF V600E mutation. While a rare occurrence, such a molecular test, is advocated if, following histopathological analysis, papillary craniopharyngioma and Rathkeâs cleft cyst remain possible diagnoses. Given the burgeoning data on the efficacy and tolerability of MAPK pathway drug inhibition, this adjuvant therapeutic option warrants consideration against conventional stereotactic radiotherapy for recurrent or refractory residual pediatric papillary craniopharyngiomas
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