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

ÜNER M., Saglam A., Can Meydan B., Aslan K., Soylemezoglu F.

CLINICAL NEUROPATHOLOGY, cilt.36, sa.5, ss.227-232, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 5
  • Basım Tarihi: 2017
  • Doi Numarası: 10.5414/np301017
  • Dergi Adı: CLINICAL NEUROPATHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.227-232
  • Anahtar Kelimeler: atypical teratoid/rhabdoid tumor, pleomorphic xanthoastrocytoma, INI1, BRAF, TERATOID/RHABDOID TUMOR, HSNF5/INI1, MUTATIONS, FEATURES, GENE, LEIOMYOSARCOMA, GANGLIOGLIOMA, CARCINOMA, CELLS, INI1
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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.