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Thoas Fioretos

Thoas Fioretos

Research team manager

Thoas Fioretos

Application of precision medicine in clinical routine in haematology—Challenges and opportunities

Author

  • Tove Wästerlid
  • Lucia Cavelier
  • Claudia Haferlach
  • Marina Konopleva
  • Stefan Fröhling
  • Päivi Östling
  • Lars Bullinger
  • Thoas Fioretos
  • Karin E. Smedby

Summary, in English

Precision medicine is revolutionising patient care in cancer. As more knowledge is gained about the impact of specific genetic lesions on diagnosis, prognosis and treatment response, diagnostic precision and the possibility for optimal individual treatment choice have improved. Identification of hallmark genetic aberrations such as the BCR::ABL1 gene fusion in chronic myeloid leukaemia (CML) led to the rapid development of efficient targeted therapy and molecular follow-up, vastly improving survival for patients with CML during recent decades. The assessment of translocations, copy number changes and point mutations are crucial for the diagnosis and risk stratification of acute myeloid leukaemia and myelodysplastic syndromes. Still, the often heterogeneous and complex genetic landscape of haematological malignancies presents several challenges for the implementation of precision medicine to guide diagnosis, prognosis and treatment choice. This review provides an introduction and overview of the important molecular characteristics and methods currently applied in clinical practice to guide clinical decision making in haematological malignancies of myeloid and lymphoid origin. Further, experimental ways to guide the choice of targeted therapy for refractory patients are reviewed, such as functional precision medicine using drug profiling. An example of the use of pipeline studies where the treatment is chosen according to the molecular characteristics in rare solid malignancies is also provided. Finally, the future opportunities and remaining challenges of precision medicine in the real world are discussed.

Department/s

  • LTH Profile Area: Engineering Health
  • LUCC: Lund University Cancer Centre
  • Translational Genomic and Functional Studies of Leukemia
  • Division of Clinical Genetics

Publishing year

2022-08

Language

English

Pages

243-261

Publication/Series

Journal of Internal Medicine

Volume

292

Issue

2

Document type

Journal article review

Publisher

Wiley-Blackwell

Topic

  • Cancer and Oncology

Keywords

  • drug screening
  • haematology
  • MRD
  • precision medicine

Status

Published

Research group

  • Translational Genomic and Functional Studies of Leukemia

ISBN/ISSN/Other

  • ISSN: 0954-6820