Atypical teratoid rhabdoid tumor arising in a pleomorphic xanthoastrocytoma: a rare entity

• Published in: Clinical neuropathology Vol. 36; no. 5; pp. 227 - 232
• Main Authors: Uner, Meral, Saglam, Arzu, Meydan, Bilge Can, Aslan, Kerim, Soylemezoglu, Figen
• Format: Journal Article
• Language: English
• Published: Germany Dustri - Verlag Dr. Karl Feistle GmbH & Co. KG 01.09.2017
• Subjects: Antibodies; Astrocytoma - genetics; Astrocytoma - pathology; Brain Neoplasms - genetics; Brain Neoplasms - pathology; Cytokeratin; Edema; Fatal Outcome; Female; Humans; Magnetic resonance imaging; Metastasis; Mutation; Neoplasms, Multiple Primary - genetics; Neoplasms, Multiple Primary - pathology; Proto-Oncogene Proteins B-raf - genetics; Rhabdoid Tumor - genetics; Rhabdoid Tumor - pathology; Surgery; Teratoma - genetics; Teratoma - pathology; Tumors; Young Adult; Young adults
• ISSN: 0722-5091
• DOI: 10.5414/np301017

Atypical teratoid rhabdoid tumor (AT/RT) is a rare and aggressive tumor usually occurring at younger ages. Pleomorphic xanthoastrocytomas (PXA) on the other hand are quiescent tumors with benign behavior. AT/RTs arising in the setting of PXA are exceptional. We present the case of a 23-year-old female patient, the fourth in the literature, speculated as having AT/RT arising within a PXA, as demonstrated by the presence of INI1 mutation. The patient presented with a short history of headache, which increased over time, and emerging seizures. She had a contrast-enhancing mass in the left temporal area demonstrated by MRI. Pathological examination demonstrated a dimorphic tumor containing a spindle-pleomorphic component reminiscent of PXA and a rhabdoid component with INI1 loss showing features of AT/RT. Both components shared the same BRAF mutation, supporting their common origin, and hence the case was speculated as an AT/RT arising in the setting of a PXA by secondary genetic change of inactivation of INI1. She had a poor outcome despite surgery and died 8 months after her diagnosis.
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