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Do craniopharyngioma molecular signatures correlate with clinical characteristics?

TitleDo craniopharyngioma molecular signatures correlate with clinical characteristics?
Publication TypeJournal Article
Year of Publication2018
AuthorsOmay SBulent, Chen Y-N, Almeida JPaulo, Ruiz-Treviño ASaul, Boockvar JA, Stieg PE, Greenfield JP, Souweidane MM, Kacker A, Pisapia DJ, Anand VK, Schwartz TH
JournalJ Neurosurg
Volume128
Issue5
Pagination1473-1478
Date Published2018 05
ISSN1933-0693
KeywordsAdolescent, Adult, Age Factors, Aged, Aged, 80 and over, beta Catenin, Biomarkers, Tumor, Brain Neoplasms, Child, Child, Preschool, Craniopharyngioma, Female, Follow-Up Studies, Humans, Male, Middle Aged, Mutation, Neoplasm Recurrence, Local, Proto-Oncogene Proteins B-raf, Tumor Burden, Young Adult
Abstract

OBJECTIVE Exome sequencing studies have recently demonstrated that papillary craniopharyngiomas (PCPs) and adamantinomatous craniopharyngiomas (ACPs) have distinct genetic origins, each primarily driven by mutually exclusive alterations: either BRAF ( V600E), observed in 95% of PCPs, or CTNNB1, observed in 75%-96% of ACPs. How the presence of these molecular signatures, or their absence, correlates with clinical, radiographic, and outcome variables is unknown. METHODS The pathology records for patients who underwent surgery for craniopharyngiomas between May 2000 and March 2015 at Weill Cornell Medical College were reviewed. Craniopharyngiomas were identified and classified as PCP or ACP. Patients were placed into 1 of 3 groups based on their genomic mutations: BRAF mutation only, CTNNB1 mutation only, and tumors with neither of these mutations detected (not detected [ND]). Demographic, radiological, and clinical variables were collected, and their correlation with each genomic group was tested. RESULTS Histology correlated strongly with mutation group. All BRAF tumors with mutations were PCPs, and all CTNNB1 with mutations and ND tumors were ACPs. Preoperative and postoperative clinical symptoms and radiographic features did not correlate with any mutation group. There was a statistically significant relationship (p = 0.0323) between the age group (pediatric vs adult) and the mutation groups. The ND group tumors were more likely to involve the sella (p = 0.0065). CONCLUSIONS The mutation signature in craniopharyngioma is highly predictive of histology. The subgroup of tumors in which these 2 mutations are not detected is more likely to occur in children, be located in the sella, and be of ACP histology.

DOI10.3171/2017.1.JNS162232
Alternate JournalJ Neurosurg
PubMed ID28707994