Comparative molecular analysis of primary and recurrent oligodendroglioma that acquired imbalanced 1p/19q codeletion and TP53 mutation: a case report

Acta Neurochir (Wien). 2020 Dec;162(12):3019-3024. doi: 10.1007/s00701-020-04514-3. Epub 2020 Aug 12.

Abstract

Oligodendroglioma is defined by IDH mutation and 1p/19q codeletion. Normal TP53 status is also its molecular feature. We report a case of oligodendroglioma that acquired imbalanced 1p/19q codeletion and TP53 mutation at recurrence after temozolomide therapy. The primary and recurrent tumors shared IDH1 and TERT promoter mutations. Although 1p/19q was codeleted in the primary tumor, it was imbalanced in the recurrent tumor harboring TP53 mutation. The copy-neutral loss of heterozygosity might have imbalanced the 1p/19q codeletion, while temozolomide therapy possibly caused the TP53 mutation. Such phenomena, although rare, should be noted during the clinical treatment of oligodendrogliomas.

Keywords: 1p/19q codeletion; Case report; Copy-neutral loss of heterozygosity; Methylation profile; Oligodendroglioma; TP53 mutation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antineoplastic Agents, Alkylating / therapeutic use
  • Brain Neoplasms / drug therapy
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Female
  • Humans
  • Isocitrate Dehydrogenase / genetics*
  • Mutation*
  • Neoplasm Recurrence, Local
  • Oligodendroglioma / drug therapy
  • Oligodendroglioma / genetics*
  • Oligodendroglioma / pathology
  • Temozolomide / therapeutic use
  • Tumor Suppressor Protein p53 / genetics*

Substances

  • Antineoplastic Agents, Alkylating
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • Isocitrate Dehydrogenase
  • Temozolomide