Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies - Archive ouverte HAL Access content directly
Journal Articles HemaSphere Year : 2021

Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies

Sandrine Hayette
  • Function : Author
Béatrice Grange
  • Function : Author
Maxime Vallee
  • Function : Author
Sarah Huet
  • Function : Author
Isabelle Mosnier
  • Function : Author
Kaddour Chabane
  • Function : Author
Thomas Simonet
  • Function : Author
Marie Balsat
  • Function : Author
Maël Heiblig
  • Function : Author
Isabelle Tigaud
  • Function : Author
Franck Nicolini
  • Function : Author
Sylvain Mareschal
  • Function : Author
Gilles Salles
  • Function : Author
Pierre Sujobert

Abstract

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.

Dates and versions

hal-04382990 , version 1 (09-01-2024)

Identifiers

Cite

Sandrine Hayette, Béatrice Grange, Maxime Vallee, Claire Bardel, Sarah Huet, et al.. Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies. HemaSphere, 2021, 5 (2), pp.e522. ⟨10.1097/HS9.0000000000000522⟩. ⟨hal-04382990⟩
3 View
0 Download

Altmetric

Share

Gmail Mastodon Facebook X LinkedIn More