Atypical Teratoid/Rhabdoid Tumor (AT/RT) Arising From Ependymoma: A Type of AT/RT Secondarily Developing From Other Primary Central Nervous System Tumors

Journal of Neuropathology and Experimental Neurology
Sumihito NobusawaHideaki Yokoo

Abstract

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 prima...Continue Reading

References

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Citations

Sep 7, 2016·Virchows Archiv : an International Journal of Pathology·Sumihito NobusawaHideaki Yokoo
May 2, 2017·International Journal of Surgical Pathology·Boleslaw LachOlufemi Ajani
Mar 25, 2017·The American Journal of Surgical Pathology·Satoshi NakataHideaki Yokoo
Nov 8, 2017·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Valeria BarresiFilippo F Angileri
Jan 6, 2017·Neuropathology and Applied Neurobiology·A BertrandF Bourdeaut
Nov 5, 2019·International Journal of Surgical Pathology·Akash Pramod SaliSridhar Epari
Feb 22, 2017·Neuropathology and Applied Neurobiology·M HasselblattW Paulus
Aug 10, 2017·Journal of Neuropathology and Experimental Neurology·Yvonne SchweizerDavid Capper
May 26, 2017·Journal of Pathology and Translational Medicine·Sung-Hye ParkSeung-Hong Choi
Sep 1, 2018·Journal of Neuropathology and Experimental Neurology·Sabrina RossiCaterina Giannini
Nov 11, 2019·Virchows Archiv : an International Journal of Pathology·Sumihito NobusawaHideaki Yokoo
Feb 18, 2021·British Journal of Neurosurgery·Ai Jun PengNi Chen
Mar 20, 2021·The American Journal of Surgical Pathology·Christian ThomasMartin Hasselblatt

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