Combined Diffuse Astrocytoma and Pleomorphic Xanthoastrocytoma Grade III Sharing IDH1 R132H Mutation

World Neurosurg. 2018 Aug:116:316-321. doi: 10.1016/j.wneu.2018.05.156. Epub 2018 May 30.

Abstract

Background: Collision tumors are often difficult to distinguish from intratumoral heterogeneity in diffuse gliomas.

Case description: We report the case of a 44-year-old woman admitted for intracranial hypertension. Magnetic resonance imaging revealed a right intra-axial frontal mass, composed of a hypervascular nodular portion contrasting with a large nonenhanced infiltrative and muliticystic portion. Histopathologic examination showed the occurrence of two morphologically different gliomas. The largest component corresponded to an anaplastic astrocytoma, IDH1-mutated. The second corresponded to a leptomeningeal nodule, reminiscent of a pleomorphic xanthoastrocytoma. Both tumoral components exhibited anaplastic features, World Health Organization grade III. Immunohistochemical and molecular studies showed that the 2 components were identical, IDH1 R132H mutated but without BRAF V600E mutation. Tumor progression was assessed 2 years after surgery, after radiotherapy and chemotherapy, showing supratentorial leptomeningeal dissemination.

Conclusions: Collision tumors and combined neoplasms have been rarely described in the brain and only 4 similar articles report the synchronous occurrence of 2 primary gliomas. A review of the literature is proposed, focusing on criteria that could be used to discriminate them.

Keywords: Anaplastic astrocytoma; BRAF V600E; Collision tumour; IDH1 mutation; Pleomorphic xanthoastrocytoma.

Publication types

  • Case Reports

MeSH terms

  • Arginine / genetics*
  • Astrocytoma / complications
  • Astrocytoma / diagnostic imaging
  • Astrocytoma / genetics*
  • Astrocytoma / therapy
  • Brain Neoplasms / complications
  • Brain Neoplasms / diagnostic imaging
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / therapy
  • Histidine / genetics*
  • Humans
  • Isocitrate Dehydrogenase / genetics*
  • Magnetic Resonance Imaging
  • Mutation / genetics*

Substances

  • Histidine
  • Arginine
  • Isocitrate Dehydrogenase
  • IDH1 protein, human