Atypical Teratoid/Rhabdoid Tumor (AT/RT) arising from ependymoma: A type of AT/RT secondarily developing from other primary central nervous system tumors

Sumihito Nobusawa, Junko Hirato, Tsutomu Sugai, Naoki Okura, Tatsuya Yamazaki, Seiji Yamada, Hayato Ikota, Yoichi Nakazato, Hideaki Yokoo

研究成果: Article査読

24 被引用数 (Scopus)

抄録

Atypical teratoid/rhabdoid tumors (AT/RT) are rare, aggressive, embryonal brain tumors that occur most frequently in very young children; they are characterized by rhabdoid cells and loss of INI1 protein nuclear expression. Here, we report the case of a 24-year-old man with a left frontal lobe tumor that was composed mainly of rhabdoid cells showing loss of INI1 nuclear reactivity and polyphenotypic immunohistochemical expression, with a small INI1-positive component of ependymoma. Array comparative genomic hybridization separately conducted for each histologically distinct component revealed 22 shared identical copy number alterations, including loss of heterozygosity of chromosome 22q containing the INI1 locus. Furthermore, we found the C11orf95-RELA fusion gene, the genetic hallmark of supratentorial ependymomas, not only in the ependymoma component but also in the AT/RT component by fluorescence in situ hybridization analysis, suggesting that the AT/RT cells secondarily progressed from the preexisting ependymoma cells. A second genetic inactivating event in the INI1 gene was not detected in the AT/RT component. There are several reported cases of AT/RT (or INI1-negative rhabdoid tumors) arising in the setting of other primary brain tumors (gangliogliomas, pleomorphic xanthoastrocytomas, and high-grade gliomas), but the present case is the first reported AT/RT apparently evolving from an ependymoma.

本文言語English
ページ(範囲)167-174
ページ数8
ジャーナルJournal of Neuropathology and Experimental Neurology
75
2
DOI
出版ステータスPublished - 02-2016
外部発表はい

All Science Journal Classification (ASJC) codes

  • 病理学および法医学
  • 神経学
  • 臨床神経学
  • 細胞および分子神経科学

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