Hasselblatt, Martin and Oyen, Florian and Gesk, Stefan and Kordes, Uwe and Wrede, Brigitte and Bergmann, Markus and Schmid, Hansjoerg and Fruehwald, Michael C. and Schneppenheim, Reinhard and Siebert, Reiner and Paulus, Werner (2009) Cribriform Neuroepithelial Tumor (CRINET): A Nonrhabdoid Ventricular Tumor With INI1 Loss and Relatively Favorable Prognosis. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 68 (12). pp. 1249-1255. ISSN 0022-3069,
Full text not available from this repository. (Request a copy)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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CENTRAL-NERVOUS-SYSTEM; RHABDOID TUMORS; IMMUNOHISTOCHEMICAL ANALYSIS; PREDISPOSITION SYNDROME; HSNF5/INI1; MEDULLOEPITHELIOMA; INI1/SMARCB1; EXPRESSION; PHENOTYPE; CHILDREN; Atypical teratoid/rhabdoid tumor; Choroid plexus carcinoma; Ependymoma; Medulloepithelioma; Primitive neuroectodermal tumor; SMARCB1 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Hämatologie, Onkologie und Stammzelltransplantation |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 31 Aug 2020 09:14 |
| Last Modified: | 31 Aug 2020 09:14 |
| URI: | https://pred.uni-regensburg.de/id/eprint/28059 |
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