Papillary craniopharyngioma in a 4-year-old girl with BRAF V600E mutation: a case report and review of the literature

Abstract

Introduction Craniopharyngiomas 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. Conclusion This 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.

Prevalence of Endocrine and Metabolic Comorbidities in a National Cohort of Patients with Craniopharyngioma

“…Childhood-onset CP histology was exclusively adamantinomatous. pCP is described in children, but it is extremely rare [35]. In adult-onset CP, pCP was histologically confirmed in 40%, concordant with the previous reports, recognizing this subtype in 14-50% of adult-onset CP [36].…”

MANAGEMENT OF ENDOCRINE DISEASE: Childhood-onset craniopharyngioma: state of the art of care in 2018

“…Brastianos et al (13) recently reported on impressive tumor reduction in a pCP patient with BRAFV600E mutation treated with a combination therapy of a BRAF inhibitor (dabrafenib) and a MEK inhibitor (trametinib). A rare case of a pediatric pCP patient presenting with a BRAF V600E mutation was recently reported by Borrill et al (14). Another rare case of pediatric pCP with potential transition of Rathke cleft cyst metaplasia to pCP was recently published by Schlaffer el al.…”

Papillary Craniopharyngioma in a Young Child: The Importance of BRAF Mutational Testing

“…It has been hypothesized that PCP may arise from RCC by acquiring a BRAF (B-Raf proto-oncogene, serine/threonine kinase) mutation as the presence of squamous metaplasia in RCC has been associated with increased recurrence, which may reflect a continuum between RCCs and PCPs. 2,[5][6][7] Our case of PCP may possibly have had components of RCC or remnants.…”

“…3 While ACPs are more common and have a bimodal age distribution with most cases seen in children and older adults, 4 PCPs are seen almost exclusively in adults. 2,4,5 ACPs are characterized by ameloblastoma-like epithelium with peripheral palisading, stellate reticulum admixed with wet keratin, and occasional calcifications and xanthomatous change. 2,6 The majority of ACPs show mutations in the CTNNB1 gene leading to the translocation of β-catenin protein from the membrane to the nucleus that can be demonstrated on immunohistochemistry.…”

“…1,2 Although radiation therapy is commonly utilized to treat residual disease or progression in adults, the efficacy of conventional treatment in pediatric cases is unclear because of their rarity. 5 Furthermore, there is significant morbidity associated with radiation in children. 5 Recently, BRAF inhibitors such as vemurafenib and dabrafenib have been tried with success in treating PCPs in adults and may be a potential treatment option in children as well.…”