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Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies
RNA sequencing holds great promise to improve the diagnostic of hematological malignancies, because this technique enables to detect fusion transcripts, to look for somatic mutations in oncogenes, and to capture transcriptomic signatures of nosological entities. However, the analytical performances...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051993/ https://www.ncbi.nlm.nih.gov/pubmed/33880432 http://dx.doi.org/10.1097/HS9.0000000000000522 |
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author | Hayette, Sandrine Grange, Béatrice Vallee, Maxime Bardel, Claire Huet, Sarah Mosnier, Isabelle Chabane, Kaddour Simonet, Thomas Balsat, Marie Heiblig, Maël Tigaud, Isabelle Nicolini, Franck E. Mareschal, Sylvain Salles, Gilles Sujobert, Pierre |
author_facet | Hayette, Sandrine Grange, Béatrice Vallee, Maxime Bardel, Claire Huet, Sarah Mosnier, Isabelle Chabane, Kaddour Simonet, Thomas Balsat, Marie Heiblig, Maël Tigaud, Isabelle Nicolini, Franck E. Mareschal, Sylvain Salles, Gilles Sujobert, Pierre |
author_sort | Hayette, Sandrine |
collection | PubMed |
description | RNA sequencing holds great promise to improve the diagnostic of hematological malignancies, because this technique enables to detect fusion transcripts, to look for somatic mutations in oncogenes, and to capture transcriptomic signatures of nosological entities. However, the analytical performances of targeted RNA sequencing have not been extensively described in diagnostic samples. Using a targeted panel of 1385 cancer-related genes in a series of 100 diagnosis samples and 8 controls, we detected all the already known fusion transcripts and also discovered unknown and/or unsuspected fusion transcripts in 12 samples. Regarding the analysis of transcriptomic profiles, we show that targeted RNA sequencing is performant to discriminate acute lymphoblastic leukemia entities driven by different oncogenic translocations. Additionally, we show that 86% of the mutations identified at the DNA level are also detectable at the messenger RNA (mRNA) level, except for nonsense mutations that are subjected to mRNA decay. We conclude that targeted RNA sequencing might improve the diagnosis of hematological malignancies. Standardization of the preanalytical steps and further refinements of the panel design and of the bioinformatical pipelines will be an important step towards its use in standard diagnostic procedures. |
format | Online Article Text |
id | pubmed-8051993 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-80519932021-04-19 Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies Hayette, Sandrine Grange, Béatrice Vallee, Maxime Bardel, Claire Huet, Sarah Mosnier, Isabelle Chabane, Kaddour Simonet, Thomas Balsat, Marie Heiblig, Maël Tigaud, Isabelle Nicolini, Franck E. Mareschal, Sylvain Salles, Gilles Sujobert, Pierre Hemasphere Article RNA sequencing holds great promise to improve the diagnostic of hematological malignancies, because this technique enables to detect fusion transcripts, to look for somatic mutations in oncogenes, and to capture transcriptomic signatures of nosological entities. However, the analytical performances of targeted RNA sequencing have not been extensively described in diagnostic samples. Using a targeted panel of 1385 cancer-related genes in a series of 100 diagnosis samples and 8 controls, we detected all the already known fusion transcripts and also discovered unknown and/or unsuspected fusion transcripts in 12 samples. Regarding the analysis of transcriptomic profiles, we show that targeted RNA sequencing is performant to discriminate acute lymphoblastic leukemia entities driven by different oncogenic translocations. Additionally, we show that 86% of the mutations identified at the DNA level are also detectable at the messenger RNA (mRNA) level, except for nonsense mutations that are subjected to mRNA decay. We conclude that targeted RNA sequencing might improve the diagnosis of hematological malignancies. Standardization of the preanalytical steps and further refinements of the panel design and of the bioinformatical pipelines will be an important step towards its use in standard diagnostic procedures. Lippincott Williams & Wilkins 2021-01-27 /pmc/articles/PMC8051993/ /pubmed/33880432 http://dx.doi.org/10.1097/HS9.0000000000000522 Text en Copyright © 2020 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Article Hayette, Sandrine Grange, Béatrice Vallee, Maxime Bardel, Claire Huet, Sarah Mosnier, Isabelle Chabane, Kaddour Simonet, Thomas Balsat, Marie Heiblig, Maël Tigaud, Isabelle Nicolini, Franck E. Mareschal, Sylvain Salles, Gilles Sujobert, Pierre Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies |
title | Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies |
title_full | Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies |
title_fullStr | Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies |
title_full_unstemmed | Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies |
title_short | Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies |
title_sort | performances of targeted rna sequencing for the analysis of fusion transcripts, gene mutation, and expression in hematological malignancies |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051993/ https://www.ncbi.nlm.nih.gov/pubmed/33880432 http://dx.doi.org/10.1097/HS9.0000000000000522 |
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