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Article Dans Une Revue HemaSphere Année : 2021

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

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

Résumé

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 et versions

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

Identifiants

Citer

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⟩
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