CRAN-31. PAPILLARY CRANIOPHARYNGIOMA WITH BRAF V600E MUTATION IN A FOUR YEAR OLD CHILD: A CASE REPORT AND REVIEW OF CLINICAL CASES FROM LITERATURE. Issue 2 (22nd June 2018)

• Record Type: Journal Article
• Authors: Borrill, Roisin; Penn, Anthony; Cheesman, Edmund; Stivaros, Stavros; Kamaly-Asl, Ian D; Gnanalingham, Kanna; Kilday, John-Paul
• Is Part Of: Neuro-oncology. Volume 20:Issue 2(2018)supplement 2
• Page Start: i43
• Page End: i43
• Publication Date: 2018-06-22
• Subjects: Brain Neoplasms -- Periodicals; Brain -- Tumors -- Periodicals; Brain -- Cancer -- Periodicals; Nervous system -- Cancer -- Periodicals; 616.99481
• DOI: 10.1093/neuonc/noy059.067
• Languages: English
• ISSNs: 1522-8517

Abstract

Abstract: INTRODUCTION: We report a four year old girl with autistic spectrum disorder who was being investigated for symptomatic central hypothyroidism and potential growth hormone deficiency. Brain MR imaging revealed a large solid / cystic suprasellar mass, splaying the optic chiasm and measuring 3 x 1.9 x 2.3 centimeters. The pituitary was obscured, other than a small portion of the infundibulum. The patient underwent a transphenoidal near total resection of the lesion, with necrotic cream-like material being encountered within the tumour bed. 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 has had no further therapy and remains stable nine months following surgery. LITERATURE REVIEW, METHODS AND RESULTS: Clinical cases of pediatric papillary craniopharyngioma were identified for those aged below 16 years via OVID and Pubmed search engines using clearly defined terms. Cases meeting the inclusion criteria are presented. CONCLUSION: We present one of the youngest patients published with a papillary craniopharyngioma, confirmed using histological and molecular analysis. This tumour type is extremely uncommon in the very young and encourages discussion about the most appropriate adjuvant therapy for tumour progression in such children, given the risks of radiotherapy to the developing brain and the increasing availability of oral BRAF inhibitor therapy.