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Erschienen in: Virchows Archiv 5/2020

09.11.2019 | Original Article

Secondary INI1-deficient rhabdoid tumors of the central nervous system: analysis of four cases and literature review

verfasst von: Sumihito Nobusawa, Satoshi Nakata, Yuka Yoshida, Tatsuya Yamazaki, Keisuke Ueki, Keishiro Amano, Junkoh Yamamoto, Makiko Miyahara, Tsutomu Sugai, Yoichi Nakazato, Junko Hirato, Hideaki Yokoo

Erschienen in: Virchows Archiv | Ausgabe 5/2020

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Abstract

Atypical teratoid/rhabdoid tumors (AT/RT) are rare, highly malignant neoplasms of the central nervous system that predominantly occur in infants, and are characterized by the presence of rhabdoid cells and inactivation of INI1 or (extremely rarely) BRG1. The vast majority of AT/RT are recognized as primary tumors; however, rare AT/RT or INI1-deficient RT arising from other primary tumors have been reported. To better characterize secondary RT, we performed a histological and molecular analysis of four RT arising from pleomorphic xanthoastrocytoma (PXA), anaplastic PXA, low-grade astrocytoma, or ependymoma. Histologically, although conventional AT/RT are usually not largely composed of rhabdoid cells, three secondary RT were composed mainly of rhabdoid cells, two of which arising from (anaplastic) PXA exhibited marked nuclear pleomorphism reminiscent of that in the precursor lesions. Regarding INI1 alterations, although mutations including small indels are frequent in conventional AT/RT, only in one secondary RT had a mutation. Moreover, together with previously reported cases, biallelic INI1 inactivation in secondary RT was mostly due to biallelic focal and/or broad deletions. Although conventional AT/RT have stable chromosomal profiles, i.e., the frequency of copy number changes involving chromosomes other than chromosome 22 is remarkably low, our array comparative genomic hybridization analysis revealed numerous copy number changes in the secondary RT. In conclusion, secondary RT of the central nervous system are clinicopathologically and molecularly different from conventional pediatric AT/RT, and a nosological issue is whether these secondary RT should be called secondary “AT/RT” as most of the reported cases were.
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Metadaten
Titel
Secondary INI1-deficient rhabdoid tumors of the central nervous system: analysis of four cases and literature review
verfasst von
Sumihito Nobusawa
Satoshi Nakata
Yuka Yoshida
Tatsuya Yamazaki
Keisuke Ueki
Keishiro Amano
Junkoh Yamamoto
Makiko Miyahara
Tsutomu Sugai
Yoichi Nakazato
Junko Hirato
Hideaki Yokoo
Publikationsdatum
09.11.2019
Verlag
Springer Berlin Heidelberg
Erschienen in
Virchows Archiv / Ausgabe 5/2020
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-019-02686-7

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