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Application of precision medicine in clinical routine in haematology - challenges and opportunities

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Item Type:Review
Title:Application of precision medicine in clinical routine in haematology - challenges and opportunities
Creators Name:Wästerlid, T. and Cavelier, L. and Haferlach, C. and Konopleva, M. and Fröhling, S. and Östling, P. and Bullinger, L. and Fioretos, T. and Smedby, K.E.
Abstract: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 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 treatment is chosen according to molecular characteristics in rare solid malignancies is also provided. Finally, future opportunities and remaining challenges of precision medicine in the real world are discussed. This article is protected by copyright. All rights reserved.
Keywords:Drug Screening, Haematology, MRD, Precision Medicine
Source:Journal of Internal Medicine
Page Range:243-261
Date:August 2022
Official Publication:https://doi.org/10.1111/joim.13508
PubMed:View item in PubMed

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