Multiplex ligation-dependent probe amplification analysis is useful for detecting a copy number gain of the FGFR1 tyrosine kinase domain in dysembryoplastic neuroepithelial tumors

Nozomi Matsumura, Sumihito Nobusawa, Junko Ito, Akiyoshi Kakita, Hiroyoshi Suzuki, Yukihiko Fujii, Masafumi Fukuda, Masaki Iwasaki, Nobukazu Nakasato, Teiji Tominaga, Atsushi Natsume, Yoshiki Mikami, Naoki Shinojima, Tatsuya Yamazaki, Yoichi Nakazato, Junko Hirato, Hideaki Yokoo

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

Purpose: Dysembryoplastic neuroepithelial tumors (DNTs) are slow-growing glioneuronal tumors, and their genetic backgrounds are getting unveiled. Recently, fibroblast growth factor receptor 1 internal tandem duplication (FGFR1-ITD) of the tyrosine kinase domain (TKD) has been demonstrated by whole-genome sequencing. Methods and Results: Here, we analyzed 22 DNTs using multiplex ligation-dependent probe amplification (MLPA) with formalin-fixed paraffin-embedded specimens and found a copy number gain in TKD of FGFR1 (13 cases, 59%), which suggested the presence of FGFR1-ITD. Another 5 DNTs harbored FGFR1 hot spot mutations including a double mutant case, and FGFR1 alterations were detected in 18 DNTs (82%). The BRAF V600E mutation, another important mutation in DNTs, was not observed. Conclusions: With recent findings of less frequent or absent FGFR1-ITD in pilocytic astrocytomas or rosette-forming glioneuronal tumors, the analysis of FGFR1 aberrations, especially FGFR1-ITD, was suggested to be helpful to discriminate DNTs from their histological mimics.

Original languageEnglish
Pages (from-to)27-33
Number of pages7
JournalJournal of Neuro-Oncology
Volume143
Issue number1
DOIs
Publication statusPublished - 2019 May 1

Keywords

  • DNT
  • FFPE
  • FGFR1 alteration
  • FGFR1-ITD
  • MLPA

ASJC Scopus subject areas

  • Oncology
  • Neurology
  • Clinical Neurology
  • Cancer Research

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