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Thoas Fioretos

Thoas Fioretos

Research team manager

Thoas Fioretos

Transcriptomics paving the way for improved diagnostics and precision medicine of acute leukemia


  • Henrik Lilljebjörn
  • Christina Orsmark-Pietras
  • Felix Mitelman
  • Anna Hagström-Andersson
  • Thoas Fioretos

Summary, in English

Transcriptional profiling of acute leukemia, specifically by RNA-sequencing or whole transcriptome sequencing (WTS), has provided fundamental insights into its underlying disease biology and allows unbiased detection of oncogenic gene fusions, as well as of gene expression signatures that can be used for improved disease classification. While used as a research tool for many years, RNA-sequencing is becoming increasingly used in clinical diagnostics. Here, we highlight key transcriptomic studies of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) that have improved our biological understanding of these heterogeneous malignant disorders and have paved the way for translation into clinical diagnostics. Recent single-cell transcriptomic studies of ALL and AML, which provide new insights into the cellular ecosystem of acute leukemia and point to future clinical utility, are also reviewed. Finally, we discuss current challenges that need to be overcome for a more wide-spread adoption of RNA-sequencing in clinical diagnostics and how this technology significantly can aid the identification of genetic alterations in current guidelines and of newly emerging disease entities, some of which are critical to identify because of the availability of targeted therapies, thereby paving the way for improved precision medicine of acute leukemia.


  • Division of Clinical Genetics
  • LUCC: Lund University Cancer Centre
  • Translational Genomic and Functional Studies of Leukemia
  • Center for Translational Genomics (CTG)

Publishing year







Seminars in Cancer Biology



Document type

Journal article


Academic Press


  • Cancer and Oncology


  • Acute lymphoblastic leukemia
  • Acute myeloid leukemia
  • Classification
  • Diagnostics
  • Gene fusions
  • Precision medicine
  • RNA-sequencing
  • Whole transcriptome sequencing



Research group

  • Translational Genomic and Functional Studies of Leukemia


  • ISSN: 1044-579X