Revisiting the definition of glioma recurrence based on a phylogenetic investigation of primary and re-emerging tumor samples: a case report

Toru Umehara, Hideyuki Arita, Fuyuki Miya, Takamune Achiha, Tomoko Shofuda, Ema Yoshioka, Daisuke Kanematsu, Tomoyoshi Nakagawa, Manabu Kinoshita, Naoki Kagawa, Yasunori Fujimoto, Naoya Hashimoto, Hiroki Kiyokawa, Eiichi Morii, Tatsuhiko Tsunoda, Yonehiro Kanemura, Haruhiko Kishima

Research output: Contribution to journalArticlepeer-review

Abstract

A recurrent tumor is defined as a re-emerging subclone originating from an ancestorial clone of the primary neoplasm. Hence, it should be distinguished from de novo tumor emerging from other clones. Herein, we describe an exceptional case in which the locally re-emerging glioma did not share genetic alterations of the primary tumor. While the initial tumor harbored mutations in IDH1 and TERT genes as well as 1p/19q codeletion, the re-emerging tumor did not present any of these genetic abnormalities. Variant calling for tumor samples using whole-genome sequencing revealed that 1696 mutations within the primary tumor faded in the re-emerging tumor, and that 4591 mutations were newly detected in the re-emerging tumor. These results suggested that the initial and re-emerging tumors did not share same clonal origins, although the second tumor appeared adjacent to the old surgical cavity 5 years after the initial surgery. We finally speculated that the re-emerging tumor could be a “de novo glioma” or “radiation-induced glioblastoma following treatment of a diffuse glioma.” This case highlights the importance of molecular re-evaluation of clinically diagnosed “recurrent” glioma lesions.

Original languageEnglish
JournalBrain tumor pathology
DOIs
Publication statusAccepted/In press - 2022

Keywords

  • Diffuse glioma
  • Phylogenetic analysis
  • Radiation-induced glioma
  • Recurrent glioma

ASJC Scopus subject areas

  • Oncology
  • Clinical Neurology
  • Cancer Research

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