Cargando…

MPC-15 FEASIBILITY OF GLIOMA SPECIFIC ONCOPANEL IN THE DIAGNOSIS OF GLIOMA

AIM: Molecular classification of glioma is a mandatory in the diagnosis of glioma according to the WHO 2016 classification of tumors of the central nervous system. However, WHO does not indicate the molecular methodology to be integrated, and the versatility and cost-effectiveness of molecular diagn...

Descripción completa

Detalles Bibliográficos
Autores principales: Yoshimoto, Koji, Higa, Nayuta, Akahane, Toshiaki, Yonezawa, Hajime, Uchida, Hiroyuki, Tanimoto, Akihide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213123/
http://dx.doi.org/10.1093/noajnl/vdz039.110
_version_ 1783531734473637888
author Yoshimoto, Koji
Higa, Nayuta
Akahane, Toshiaki
Yonezawa, Hajime
Uchida, Hiroyuki
Tanimoto, Akihide
author_facet Yoshimoto, Koji
Higa, Nayuta
Akahane, Toshiaki
Yonezawa, Hajime
Uchida, Hiroyuki
Tanimoto, Akihide
author_sort Yoshimoto, Koji
collection PubMed
description AIM: Molecular classification of glioma is a mandatory in the diagnosis of glioma according to the WHO 2016 classification of tumors of the central nervous system. However, WHO does not indicate the molecular methodology to be integrated, and the versatility and cost-effectiveness of molecular diagnosis is a concern. In this study, we evaluate the feasibility of a glioma specific tailored NGS panel where driver gene mutation and 1p/19q codeletion can be analyzed in a single platform. MATERIALS AND METHODS: We developed a glioma specific tailored NGS panel consisting of 48 key driver genes including IDH1/2, TP53, PTEN, EGFR, PDGFR, NF1, RB1, CDKN2A, and the TERT promoter. DNA was extracted from FFPE tumor tissues histologically identified by a pathologist, and from patient derived blood to serve as a control. In this system, gene mutations and copy number alterations can be precisely characterized, thus 1p/19q co-deletion can also be evaluated. We have analyzed 106 glioma patients (Grade II: 19 cases, Grade III: 23 cases, Grade IV: 64 cases) using this system. RESULTS: From these 106 cases, IDH1 and TERT promoter mutations were detected in 33 cases (28%) and 55 cases (52%), respectively. 1p/19q co-deletion was detected in 19 cases (18%), with IDH1 mutations in all cases. In 57 Grade IV cases, TP53, PTEN, RB1, NF1, PDGFRA mutations were detected in 25 cases (43%), 24 cases (41%), 10 cases (17%), 8 cases (14%) and 6 cases (10%). Although EGFR mutation frequency was low (3%), amplification was detected in 14 cases (24%). As for deletion, PTEN and CDKN2A loci were deleted in 36 cases (62%) and 30 cases (52%), respectively. To note, MET alterations were detected in 2 cases. The cases in which histopathological diagnosis is difficult to make have a tendency to show atypical genetic alterations. CONCLUSION: Diagnosis of glioma patients with this glioma-specific tailored NGS panel is feasible.
format Online
Article
Text
id pubmed-7213123
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Oxford University Press
record_format MEDLINE/PubMed
spelling pubmed-72131232020-07-07 MPC-15 FEASIBILITY OF GLIOMA SPECIFIC ONCOPANEL IN THE DIAGNOSIS OF GLIOMA Yoshimoto, Koji Higa, Nayuta Akahane, Toshiaki Yonezawa, Hajime Uchida, Hiroyuki Tanimoto, Akihide Neurooncol Adv Abstracts AIM: Molecular classification of glioma is a mandatory in the diagnosis of glioma according to the WHO 2016 classification of tumors of the central nervous system. However, WHO does not indicate the molecular methodology to be integrated, and the versatility and cost-effectiveness of molecular diagnosis is a concern. In this study, we evaluate the feasibility of a glioma specific tailored NGS panel where driver gene mutation and 1p/19q codeletion can be analyzed in a single platform. MATERIALS AND METHODS: We developed a glioma specific tailored NGS panel consisting of 48 key driver genes including IDH1/2, TP53, PTEN, EGFR, PDGFR, NF1, RB1, CDKN2A, and the TERT promoter. DNA was extracted from FFPE tumor tissues histologically identified by a pathologist, and from patient derived blood to serve as a control. In this system, gene mutations and copy number alterations can be precisely characterized, thus 1p/19q co-deletion can also be evaluated. We have analyzed 106 glioma patients (Grade II: 19 cases, Grade III: 23 cases, Grade IV: 64 cases) using this system. RESULTS: From these 106 cases, IDH1 and TERT promoter mutations were detected in 33 cases (28%) and 55 cases (52%), respectively. 1p/19q co-deletion was detected in 19 cases (18%), with IDH1 mutations in all cases. In 57 Grade IV cases, TP53, PTEN, RB1, NF1, PDGFRA mutations were detected in 25 cases (43%), 24 cases (41%), 10 cases (17%), 8 cases (14%) and 6 cases (10%). Although EGFR mutation frequency was low (3%), amplification was detected in 14 cases (24%). As for deletion, PTEN and CDKN2A loci were deleted in 36 cases (62%) and 30 cases (52%), respectively. To note, MET alterations were detected in 2 cases. The cases in which histopathological diagnosis is difficult to make have a tendency to show atypical genetic alterations. CONCLUSION: Diagnosis of glioma patients with this glioma-specific tailored NGS panel is feasible. Oxford University Press 2019-12-16 /pmc/articles/PMC7213123/ http://dx.doi.org/10.1093/noajnl/vdz039.110 Text en © The Author(s) 2019. Published by Oxford University Press, the Society for Neuro-Oncology and the European Association of Neuro-Oncology. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Abstracts
Yoshimoto, Koji
Higa, Nayuta
Akahane, Toshiaki
Yonezawa, Hajime
Uchida, Hiroyuki
Tanimoto, Akihide
MPC-15 FEASIBILITY OF GLIOMA SPECIFIC ONCOPANEL IN THE DIAGNOSIS OF GLIOMA
title MPC-15 FEASIBILITY OF GLIOMA SPECIFIC ONCOPANEL IN THE DIAGNOSIS OF GLIOMA
title_full MPC-15 FEASIBILITY OF GLIOMA SPECIFIC ONCOPANEL IN THE DIAGNOSIS OF GLIOMA
title_fullStr MPC-15 FEASIBILITY OF GLIOMA SPECIFIC ONCOPANEL IN THE DIAGNOSIS OF GLIOMA
title_full_unstemmed MPC-15 FEASIBILITY OF GLIOMA SPECIFIC ONCOPANEL IN THE DIAGNOSIS OF GLIOMA
title_short MPC-15 FEASIBILITY OF GLIOMA SPECIFIC ONCOPANEL IN THE DIAGNOSIS OF GLIOMA
title_sort mpc-15 feasibility of glioma specific oncopanel in the diagnosis of glioma
topic Abstracts
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213123/
http://dx.doi.org/10.1093/noajnl/vdz039.110
work_keys_str_mv AT yoshimotokoji mpc15feasibilityofgliomaspecificoncopanelinthediagnosisofglioma
AT higanayuta mpc15feasibilityofgliomaspecificoncopanelinthediagnosisofglioma
AT akahanetoshiaki mpc15feasibilityofgliomaspecificoncopanelinthediagnosisofglioma
AT yonezawahajime mpc15feasibilityofgliomaspecificoncopanelinthediagnosisofglioma
AT uchidahiroyuki mpc15feasibilityofgliomaspecificoncopanelinthediagnosisofglioma
AT tanimotoakihide mpc15feasibilityofgliomaspecificoncopanelinthediagnosisofglioma