title: Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis.
abstract: Atypical teratoid/rhabdoid tumors are malignant embryonal tumors characterized by the presence of rhabdoid cells, genetic alterations affecting the SMARCB1 gene (hSNF5/INI1), and a poor prognosis. Whether INI1 plays a role in the pathogenesis of other central nervous system tumors is uncertain. We report on cases of 2 young children with unusual intracranial nonrhabdoid neuroectodermal tumors within and around the third or fourth ventricle that are characterized by cribriform strands and trabeculae and well-defined epithelial membrane antigen-immunopositive surfaces and show INI1 protein loss. Histological and immunohistochemical features did not correspond to established tumor types, including atypical teratoid/rhabdoid tumors, medulloepithelioma, choroid plexus carcinoma, and ependymoma. Fluorescence in situ hybridization analyses failed to identify chromosomal alterations affecting the SMARCB1 locus, but sequencing revealed a homozygous 4-bp duplication in exon 4 (492duplCCTT) in one of the tumors. Both children responded well to conventional adjuvant therapy protocols and are alive and in complete remission longer than 5 years postoperatively. We suggest that cribriform neuroepithelial tumor (CRINET) is a nonrhabdoid ventricular tumor that shows loss of tumoral INI1 protein and has a relatively favorable prognosis.
authors.affiliation: Institute of Neuropathology, University Hospital Münster, Münster, Germany. hasselblatt@uni-muenster.de
authors.forename: Martin
authors.initials: M
authors.lastname: Hasselblatt
authors.forename: Florian
authors.initials: F
authors.lastname: Oyen
authors.forename: Stefan
authors.initials: S
authors.lastname: Gesk
authors.forename: Uwe
authors.initials: U
authors.lastname: Kordes
authors.forename: Brigitte
authors.initials: B
authors.lastname: Wrede
authors.forename: Markus
authors.initials: M
authors.lastname: Bergmann
authors.forename: Hansjörg
authors.initials: H
authors.lastname: Schmid
authors.forename: Michael C
authors.initials: MC
authors.lastname: Frühwald
authors.forename: Reinhard
authors.initials: R
authors.lastname: Schneppenheim
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.forename: Werner
authors.initials: W
authors.lastname: Paulus
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D003131:Combined Modality Therapy; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020546:Fourth Ventricle / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D018302:Neoplasms, Neuroepithelial / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D019635:Neurosurgical Procedures; D011379:Prognosis; D011878:Radiotherapy; D000071796:SMARCB1 Protein; D020542:Third Ventricle / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors