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01-05-2019 | Laboratory Investigation

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

Authors: 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

Published in: Journal of Neuro-Oncology | Issue 1/2019

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.

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Title: Multiplex ligation-dependent probe amplification analysis is useful for detecting a copy number gain of the FGFR1 tyrosine kinase domain in dysembryoplastic neuroepithelial tumors
Authors: 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
Publication date: 01-05-2019
Publisher: Springer US
Published in: Journal of Neuro-Oncology / Issue 1/2019
Print ISSN: 0167-594X
Electronic ISSN: 1573-7373
DOI: https://doi.org/10.1007/s11060-019-03138-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Purpose

Methods and Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods and Results

Conclusions

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