In:
Neuropathology, Wiley, Vol. 34, No. 4 ( 2014-08), p. 398-405
Kurzfassung:
Atypical teratoid/rhabdoid tumor ( AT / RT ) is a rare, highly malignant, true rhabdoid tumor in the central nervous system predominantly presenting in young children. AT / RT typically shows rhabdoid cells which can also be seen in other tumors, but it is differentiated from other tumors by the specific genetic alteration involving the SMARCB1 gene. Only a few cases of AT / RT arising in low‐grade glioma have been reported. A 13‐year‐old girl presented with headache, dizziness, nausea and vomiting. A 4.7 cm cerebellar mass was found on MRI . The mass was totally removed. Histologically, the tumor revealed two distinct morphologic appearances: central areas of AT / RT containing rhabdoid cells and sarcomatous component in the background of pleomorphic xanthoastrocytoma ( PXA ). Immunohistochemically, PXA areas retained nuclear expression of INI ‐1 and low K i‐67 proliferation index, whereas AT / RT component showed loss of INI ‐1 nuclear expression and markedly elevated K i‐67 proliferation index. Epithelial membrane antigen ( EMA ), smooth muscle actin ( SMA ), and p53 protein were positive only in AT / RT . BRAF V600E mutation was identified in PXA by real‐time polymerase chain reaction. We report a rare case of AT / RT arising in PXA which is supposed to progress by inactivation of INI ‐1 in a pre‐existing PXA .
Materialart:
Online-Ressource
ISSN:
0919-6544
,
1440-1789
DOI:
10.1111/neup.2014.34.issue-4
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2014
ZDB Id:
2008290-3
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