Septal dysembryoplastic neuroepithelial tumor: a comprehensive clinical, imaging, histopathologic, and molecular analysis. Neuro Oncol 2019 Jun 10;21(6):800-808
Date
02/07/2019Pubmed ID
30726976Pubmed Central ID
PMC6556860DOI
10.1093/neuonc/noz037Scopus ID
2-s2.0-85067631331 (requires institutional sign-in at Scopus site) 28 CitationsAbstract
BACKGROUND: Dysembryoplastic neuroepithelial tumors (DNETs) are uncommon neural tumors presenting most often in children and young adults and associated with intractable seizures. Rare midline neoplasms with similar histological features to those found in DNETs have been described near the septum pellucidum and termed "DNET-like neoplasms of the septum pellucidum." Due to their rarity, these tumors have been described in just a few reports and their genetic alterations sought only in small series.
METHODS: We collected 20 of these tumors for a comprehensive study of their clinical, radiological, and pathological features. RNA sequencing or targeted DNA sequencing was undertaken on 18 tumors, and genome-wide DNA methylation profiling was possible with 11 tumors. Published cases (n = 22) were also reviewed for comparative purposes.
RESULTS: The commonest presenting symptoms and signs were related to raised intracranial pressure; 40% of cases required cerebrospinal fluid diversion. Epilepsy was seen in approximately one third of cases. All patients had an indolent disease course, despite metastasis within the neuraxis in a few cases. Radiologically, the septum verum/septal nuclei were involved in all cases and are the proposed site of origin for septal DNET (sDNET). Septal DNET showed a high frequency (~80%) of mutations of platelet derived growth factor receptor A (PDGFRA), and alterations in fibroblast growth factor receptor 1 (FGFR1) and neurofibromatosis type 1 (NF1) were also identified. In a genomic DNA methylation analysis alongside other neural tumors, sDNETs formed a separate molecular group.
CONCLUSIONS: Genetic alterations that are different from those of cerebral DNETs and a distinct methylome profile support the proposal that sDNET is a distinct disease entity.
Author List
Chiang JCH, Harreld JH, Tanaka R, Li X, Wen J, Zhang C, Boué DR, Rauch TM, Boyd JT, Chen J, Corbo JC, Bouldin TW, Elton SW, Liu LL, Schofield D, Lee SC, Bouffard JP, Georgescu MM, Dossani RH, Aguiar MA, Sances RA, Saad AG, Boop FA, Qaddoumi I, Ellison DWAuthor
Ryuma Tanaka MD Assistant Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Biomarkers, TumorBrain Neoplasms
Child
DNA Methylation
Female
Gene Expression Regulation, Neoplastic
Humans
Magnetic Resonance Imaging
Male
Mutation
Neoplasms, Neuroepithelial
Prognosis
Receptor, Fibroblast Growth Factor, Type 1
Receptor, Platelet-Derived Growth Factor alpha
Survival Rate
