title: Dysembryoplastic Neuroepithelial Tumor of the Septum Pellucidum and the Supratentorial Midline: Histopathologic, Neuroradiologic, and Molecular Features of 7 Cases.
abstract: Dysembryoplastic neuroepithelial tumors (DNTs) are one of the most common epilepsy-associated low-grade glioneuronal tumors of the central nervous system. Although most DNTs occur in the cerebral cortex, DNT-like tumors with unusual intraventricular or periventricular localizations have been reported. Most of them involve the septum pellucidum and the foramen of Monro. In this study, we have described the neuroradiologic, histopathologic, and molecular features of 7 cases (4 female and 3 male; patient age range, 3 to 34 y; mean age, 16.7 y). The tumors, all localized near the supratentorial midline structures in proximity to the foramen of Monro and septum pellucidum, appeared in magnetic resonance imaging as well-delimited cystic lesions with cerebrospinal fluid-like signal on T1-weighted and T2-weighted images, some of them with typical fluid-attenuated inversion recovery ring sign. Histologically, they shared features with classic cortical DNTs but did not display aspects of multinodularity. From a molecular point of view the cases investigated did not show KIAA1549-BRAF fusions or FGFR1 mutations, alterations otherwise observed in pilocytic astrocytomas, or MYB and MYBL1 alterations that have been identified in a large group of pediatric low-grade gliomas. Moreover, BRAF mutations, which so far represent the most common molecular alteration found in cortical DNTs, were absent in this group of rare periventricular tumors.
authors.affiliation: *Institute of Neuropathology †Department of Neuroradiology, Institute of Radiology, University of Bonn Medical Center, Bonn, Germany.
authors.forename: Marco
authors.initials: M
authors.lastname: Gessi
authors.forename: Elke
authors.initials: E
authors.lastname: Hattingen
authors.forename: Evelyn
authors.initials: E
authors.lastname: Dörner
authors.forename: Tobias
authors.initials: T
authors.lastname: Goschzik
authors.forename: Verena
authors.initials: V
authors.lastname: Dreschmann
authors.forename: Andreas
authors.initials: A
authors.lastname: Waha
authors.forename: Torsten
authors.initials: T
authors.lastname: Pietsch
mesh_terms: D000293:Adolescent; D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D018302:Neoplasms, Neuroepithelial / Q000235:genetics / Q000473:pathology*; D012688:Septum Pellucidum / Q000473:pathology*; D015173:Supratentorial Neoplasms / Q000235:genetics / Q000473:pathology*; D013724:Teratoma / Q000235:genetics / Q000473:pathology*; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor