Application of precision medicine in clinical routine in haematology—Challenges and opportunities
(2022) In Journal of Internal Medicine 292(2). p.243-261- 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... (More)
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.
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- author
- Wästerlid, Tove LU ; Cavelier, Lucia ; Haferlach, Claudia ; Konopleva, Marina ; Fröhling, Stefan ; Östling, Päivi ; Bullinger, Lars ; Fioretos, Thoas LU and Smedby, Karin E.
- organization
- publishing date
- 2022-08
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- drug screening, haematology, MRD, precision medicine
- in
- Journal of Internal Medicine
- volume
- 292
- issue
- 2
- pages
- 19 pages
- publisher
- Wiley-Blackwell
- external identifiers
-
- scopus:85131376976
- pmid:35599019
- ISSN
- 0954-6820
- DOI
- 10.1111/joim.13508
- language
- English
- LU publication?
- yes
- additional info
- Funding Information: T. W. was supported by Region Stockholm (clinical postdoctoral appointment). Publisher Copyright: © 2022 The Authors. Journal of Internal Medicine published by John Wiley & Sons Ltd on behalf of Association for Publication of The Journal of Internal Medicine.
- id
- de5966b6-238e-4244-a22b-43e4887d2b59
- date added to LUP
- 2022-12-30 12:22:25
- date last changed
- 2025-04-15 11:11:51
@article{de5966b6-238e-4244-a22b-43e4887d2b59,
abstract = {{<p>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.</p>}},
author = {{Wästerlid, Tove and Cavelier, Lucia and Haferlach, Claudia and Konopleva, Marina and Fröhling, Stefan and Östling, Päivi and Bullinger, Lars and Fioretos, Thoas and Smedby, Karin E.}},
issn = {{0954-6820}},
keywords = {{drug screening; haematology; MRD; precision medicine}},
language = {{eng}},
number = {{2}},
pages = {{243--261}},
publisher = {{Wiley-Blackwell}},
series = {{Journal of Internal Medicine}},
title = {{Application of precision medicine in clinical routine in haematology—Challenges and opportunities}},
url = {{http://dx.doi.org/10.1111/joim.13508}},
doi = {{10.1111/joim.13508}},
volume = {{292}},
year = {{2022}},
}