High-Resolution Genomic Analysis of Cribriform Neuroepithelial Tumors of the Central Nervous System. Issue 10 (October 2015)

• Record Type: Journal Article
• Authors: Gessi, Marco; Japp, Anna Sophia; Dreschmann, Verena; zur Mühlen, Anja; Goschzik, Tobias; Dörner, Evelyn; Pietsch, Torsten
• Is Part Of: Journal of neuropathology and experimental neurology. Volume 74:Issue 10(2015:Oct.)
• Publication Date: 2015-10
• Subjects: Neurology -- Diseases -- Periodicals; Neurology -- Diseases -- Physiopathology -- Periodicals; 616.8047
• DOI: 10.1097/NEN.0000000000000239
• Languages: English
• ISSNs: 0022-3069

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <sec> <title>Abstract</title> <p>Cribriform neuroepithelial tumors (CRINET) are one of several recently characterized entities in the broad spectrum of solid tumors with <italic>SMARCB1-INI1</italic> loss. This neoplasm seems to be exceedingly rare and displays unique neuropathologic and clinical features. To date, only a few cases of CRINET have been characterized from a molecular point of view. In this study, we investigated the molecular features of 3 cases of CRINET using multiplex ligation-dependent probe amplification and molecular inversion profiling approaches. Along with mutations and deletions of <italic>SMARCB1-INI1</italic>, molecular inversion profiling analysis revealed a stable genomic profile without significant large chromosomal changes. Focal alterations (gains) were observed in individual cases at chromosomes 4q12 (<italic>PDGFRA</italic>), 12q15 (<italic>MDM2</italic>), 7p15.1 (<italic>NPY</italic>), and 18q11.2 (<italic>CDH2</italic>). Genomic Identification of Significant Targets in Cancer analysis highlighted focal alterations, including gains at chromosomes 16q23.2 (<italic>MAF</italic>), 17q23 (<italic>AXIN2</italic>), and 8p12 (<italic>ADAM3A</italic>). No cases showed <italic>BRAF</italic><sup><italic>V600E</italic></sup> or <italic>CTNNB1</italic> mutations. These data indicate that CRINET present stable genetic features and lack alterations commonly identified in other pediatric brain tumors. Further studies are required to determine whether specific alterations and specific signaling pathways, in addition to <italic>SMARCB1-INI1</italic>, may be implicated in the biology of this rare tumor and whether there are additional molecular similarities between CRINET and atypical teratoid/rhabdoid tumors.</p> </sec> </abstract>