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MPC-18 CATEGORIZATION OF LOWER GRADE GLIOMA USING ONCOPANEL
PURPOSE: We are developing a 48-gene OncoPanel (Kagoshima Brain Tumor 48 OncoPanel) specializing in glioma diagnosis. Clinical application of genetic diagnosis derived from genetic alterations detected by OncoPanel, including IDH mutation, 1p/19q-codeletion, and other gene mutations in lower-grade g...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213149/ http://dx.doi.org/10.1093/noajnl/vdz039.113 |
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author | Uchida, Hiroyuki Akahane, Toshiaki Higa, Nayuta Kirishima, Mari Hiraki, Tsubasa Yonezawa, Hajime Tanimoto, Akihide Yoshimoto, Koji |
author_facet | Uchida, Hiroyuki Akahane, Toshiaki Higa, Nayuta Kirishima, Mari Hiraki, Tsubasa Yonezawa, Hajime Tanimoto, Akihide Yoshimoto, Koji |
author_sort | Uchida, Hiroyuki |
collection | PubMed |
description | PURPOSE: We are developing a 48-gene OncoPanel (Kagoshima Brain Tumor 48 OncoPanel) specializing in glioma diagnosis. Clinical application of genetic diagnosis derived from genetic alterations detected by OncoPanel, including IDH mutation, 1p/19q-codeletion, and other gene mutations in lower-grade glioma was verified. METHODS: The 48 genes consist of 24 genes related to glioma and 24 genes on chromosomes 1 and 19. DNA was extracted from tumor FFPE samples and blood samples, and then single nucleotide variants and copy number variants were detected using next-generation sequencer. RESULTS: Among the 99 diffuse glioma cases that had undergone OncoPanel analysis by July 2019, 40 cases diagnosed histologically as WHO grade 2 or 3 diffuse glioma were included. The integrated diagnosis by conventional gene analysis were Diffuse astrocytoma 10 cases, anaplastic astrocytoma 11 cases, oligodendroglioma 10 cases, anaplastic oligodendroglioma 9 cases. IDH1 mutation was detected in 30 cases, of which in 19 cases 1p/19q-codeletion was detected, all with TERT mutation. Among 11 cases with 1p/19q-non-codeletion, ATRX mutation was detected in 10 cases and was almost mutually exclusive with TERT mutation. In 10 cases without IDH mutation, EGFR amplification or mutation was detected in 6 cases, of which 4 cases were accompanied by TERT mutation. DISCUSSION: KBT48 can detect TERT and ATRX mutations in a mutually exclusive manner and can improve the classification accuracy of oligodendroglioma and astrocytoma. Groups with gene profiles similar to glioblastoma with EGFR amplification/mutation and TERT mutation can also be classified. CONCLUSIONS: In the diagnostic classification of lower-grade glioma, KBT48 can well classify into oligodendroglioma group, astrocytoma group and glioblastoma-like group, and is considered to be applicable in clinical practice. |
format | Online Article Text |
id | pubmed-7213149 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-72131492020-07-07 MPC-18 CATEGORIZATION OF LOWER GRADE GLIOMA USING ONCOPANEL Uchida, Hiroyuki Akahane, Toshiaki Higa, Nayuta Kirishima, Mari Hiraki, Tsubasa Yonezawa, Hajime Tanimoto, Akihide Yoshimoto, Koji Neurooncol Adv Abstracts PURPOSE: We are developing a 48-gene OncoPanel (Kagoshima Brain Tumor 48 OncoPanel) specializing in glioma diagnosis. Clinical application of genetic diagnosis derived from genetic alterations detected by OncoPanel, including IDH mutation, 1p/19q-codeletion, and other gene mutations in lower-grade glioma was verified. METHODS: The 48 genes consist of 24 genes related to glioma and 24 genes on chromosomes 1 and 19. DNA was extracted from tumor FFPE samples and blood samples, and then single nucleotide variants and copy number variants were detected using next-generation sequencer. RESULTS: Among the 99 diffuse glioma cases that had undergone OncoPanel analysis by July 2019, 40 cases diagnosed histologically as WHO grade 2 or 3 diffuse glioma were included. The integrated diagnosis by conventional gene analysis were Diffuse astrocytoma 10 cases, anaplastic astrocytoma 11 cases, oligodendroglioma 10 cases, anaplastic oligodendroglioma 9 cases. IDH1 mutation was detected in 30 cases, of which in 19 cases 1p/19q-codeletion was detected, all with TERT mutation. Among 11 cases with 1p/19q-non-codeletion, ATRX mutation was detected in 10 cases and was almost mutually exclusive with TERT mutation. In 10 cases without IDH mutation, EGFR amplification or mutation was detected in 6 cases, of which 4 cases were accompanied by TERT mutation. DISCUSSION: KBT48 can detect TERT and ATRX mutations in a mutually exclusive manner and can improve the classification accuracy of oligodendroglioma and astrocytoma. Groups with gene profiles similar to glioblastoma with EGFR amplification/mutation and TERT mutation can also be classified. CONCLUSIONS: In the diagnostic classification of lower-grade glioma, KBT48 can well classify into oligodendroglioma group, astrocytoma group and glioblastoma-like group, and is considered to be applicable in clinical practice. Oxford University Press 2019-12-16 /pmc/articles/PMC7213149/ http://dx.doi.org/10.1093/noajnl/vdz039.113 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 Uchida, Hiroyuki Akahane, Toshiaki Higa, Nayuta Kirishima, Mari Hiraki, Tsubasa Yonezawa, Hajime Tanimoto, Akihide Yoshimoto, Koji MPC-18 CATEGORIZATION OF LOWER GRADE GLIOMA USING ONCOPANEL |
title | MPC-18 CATEGORIZATION OF LOWER GRADE GLIOMA USING ONCOPANEL |
title_full | MPC-18 CATEGORIZATION OF LOWER GRADE GLIOMA USING ONCOPANEL |
title_fullStr | MPC-18 CATEGORIZATION OF LOWER GRADE GLIOMA USING ONCOPANEL |
title_full_unstemmed | MPC-18 CATEGORIZATION OF LOWER GRADE GLIOMA USING ONCOPANEL |
title_short | MPC-18 CATEGORIZATION OF LOWER GRADE GLIOMA USING ONCOPANEL |
title_sort | mpc-18 categorization of lower grade glioma using oncopanel |
topic | Abstracts |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213149/ http://dx.doi.org/10.1093/noajnl/vdz039.113 |
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