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<p>Molecular diagnostics in oncology uses next-generation sequencing to improve diagnostic precision, prognostic prediction and therapeutic target selection. To date, most approaches have focused on DNA-based sequencing. However, RNA sequencing (RNA-seq) enables superior fusion detection and functional characterization of other alterations including splice site mutations and expression changes. Here we report our prospective, real-world, clinical experience using a single, targeted RNA-seq assay on 2,310 solid, central nervous system and hematopoietic neoplasms from children and adults (range 0–90 years). RNA-seq performed as well as DNA-based diagnostics, with a 4.8% failure rate despite the fact that most samples were formalin fixed and paraffin embedded, and provided valuable molecular data for 87% of patients, including diagnostic alterations that resulted in revised diagnoses and the identification of clinically actionable alterations that led to a change in treatment for patients, including the administration of targeted therapies. Our experience supports the use of RNA-seq as a stand-alone tool for precision clinical diagnostics, minimizing cost, tissue requirement and turnaround time.</p>

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Clinical utility of targeted RNA sequencing in cancer molecular diagnostics

  • 期刊论文

  • 发表日期：

    2025年7月17日

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  • Robert Siddaway,
  • Aida I. Glembocki,
  • Anthony Arnoldo,
  • Jordan Staunton,
  • Anthony P. Y. Liu,
  • Kyoko E. Yuki,
  • Man Yu,
  • Sarah Cohen-Gogo,
  • Adam Shlien,
  • Anita Villani,
  • James A. Whitlock,
  • Johann Hitzler,
  • Uri Tabori,
  • Adrian B. Levine,
  • Anthea Lafrenière,
  • Anita Nagy,
  • Haiying Chen,
  • Bo-Yee Ngan,
  • Gino R. Somers,
  • Mohamed Abdelhaleem,
  • Rose Chami,
  • Cynthia Hawkins

摘要

Molecular diagnostics in oncology uses next-generation sequencing to improve diagnostic precision, prognostic prediction and therapeutic target selection. To date, most approaches have focused on DNA-based sequencing. However, RNA sequencing (RNA-seq) enables superior fusion detection and functional characterization of other alterations including splice site mutations and expression changes. Here we report our prospective, real-world, clinical experience using a single, targeted RNA-seq assay on 2,310 solid, central nervous system and hematopoietic neoplasms from children and adults (range 0–90 years). RNA-seq performed as well as DNA-based diagnostics, with a 4.8% failure rate despite the fact that most samples were formalin fixed and paraffin embedded, and provided valuable molecular data for 87% of patients, including diagnostic alterations that resulted in revised diagnoses and the identification of clinically actionable alterations that led to a change in treatment for patients, including the administration of targeted therapies. Our experience supports the use of RNA-seq as a stand-alone tool for precision clinical diagnostics, minimizing cost, tissue requirement and turnaround time.