Novel precision medicine approaches and treatment strategies in hematological malignancies
(2023) In Journal of Internal Medicine 294(4). p.413-436- Abstract
Genetic testing has been applied for decades in clinical routine diagnostics of hematological malignancies to improve disease (sub)classification, prognostication, patient management, and survival. In recent classifications of hematological malignancies, disease subtypes are defined by key recurrent genetic alterations detected by conventional methods (i.e., cytogenetics, fluorescence in situ hybridization, and targeted sequencing). Hematological malignancies were also one of the first disease areas in which targeted therapies were introduced, the prime example being BCR::ABL1 inhibitors, followed by an increasing number of targeted inhibitors hitting the Achilles’ heel of each disease, resulting in a clear patient benefit. Owing to the... (More)
Genetic testing has been applied for decades in clinical routine diagnostics of hematological malignancies to improve disease (sub)classification, prognostication, patient management, and survival. In recent classifications of hematological malignancies, disease subtypes are defined by key recurrent genetic alterations detected by conventional methods (i.e., cytogenetics, fluorescence in situ hybridization, and targeted sequencing). Hematological malignancies were also one of the first disease areas in which targeted therapies were introduced, the prime example being BCR::ABL1 inhibitors, followed by an increasing number of targeted inhibitors hitting the Achilles’ heel of each disease, resulting in a clear patient benefit. Owing to the technical advances in high-throughput sequencing, we can now apply broad genomic tests, including comprehensive gene panels or whole-genome and whole-transcriptome sequencing, to identify clinically important diagnostic, prognostic, and predictive markers. In this review, we give examples of how precision diagnostics has been implemented to guide treatment selection and improve survival in myeloid (myelodysplastic syndromes and acute myeloid leukemia) and lymphoid malignancies (acute lymphoblastic leukemia, diffuse large B-cell lymphoma, and chronic lymphocytic leukemia). We discuss the relevance and potential of monitoring measurable residual disease using ultra-sensitive techniques to assess therapy response and detect early relapses. Finally, we bring up the promising avenue of functional precision medicine, combining ex vivo drug screening with various omics technologies, to provide novel treatment options for patients with advanced disease. Although we are only in the beginning of the field of precision hematology, we foresee rapid development with new types of diagnostics and treatment strategies becoming available to the benefit of our patients.
(Less)
- author
- organization
- publishing date
- 2023
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- hematological malignancies, measurable residual disease, precision diagnostics, precision medicine, targeted therapy
- in
- Journal of Internal Medicine
- volume
- 294
- issue
- 4
- pages
- 24 pages
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:37424223
- scopus:85167360959
- ISSN
- 0954-6820
- DOI
- 10.1111/joim.13697
- language
- English
- LU publication?
- yes
- id
- 1794fce7-8639-4e3c-ac5e-5b91f1c1ddd4
- date added to LUP
- 2023-11-21 12:35:05
- date last changed
- 2024-04-18 15:51:43
@article{1794fce7-8639-4e3c-ac5e-5b91f1c1ddd4,
abstract = {{<p>Genetic testing has been applied for decades in clinical routine diagnostics of hematological malignancies to improve disease (sub)classification, prognostication, patient management, and survival. In recent classifications of hematological malignancies, disease subtypes are defined by key recurrent genetic alterations detected by conventional methods (i.e., cytogenetics, fluorescence in situ hybridization, and targeted sequencing). Hematological malignancies were also one of the first disease areas in which targeted therapies were introduced, the prime example being BCR::ABL1 inhibitors, followed by an increasing number of targeted inhibitors hitting the Achilles’ heel of each disease, resulting in a clear patient benefit. Owing to the technical advances in high-throughput sequencing, we can now apply broad genomic tests, including comprehensive gene panels or whole-genome and whole-transcriptome sequencing, to identify clinically important diagnostic, prognostic, and predictive markers. In this review, we give examples of how precision diagnostics has been implemented to guide treatment selection and improve survival in myeloid (myelodysplastic syndromes and acute myeloid leukemia) and lymphoid malignancies (acute lymphoblastic leukemia, diffuse large B-cell lymphoma, and chronic lymphocytic leukemia). We discuss the relevance and potential of monitoring measurable residual disease using ultra-sensitive techniques to assess therapy response and detect early relapses. Finally, we bring up the promising avenue of functional precision medicine, combining ex vivo drug screening with various omics technologies, to provide novel treatment options for patients with advanced disease. Although we are only in the beginning of the field of precision hematology, we foresee rapid development with new types of diagnostics and treatment strategies becoming available to the benefit of our patients.</p>}},
author = {{Rosenquist, Richard and Bernard, Elsa and Erkers, Tom and Scott, David W. and Itzykson, Raphael and Rousselot, Philippe and Soulier, Jean and Hutchings, Martin and Östling, Päivi and Cavelier, Lucia and Fioretos, Thoas and Smedby, Karin E.}},
issn = {{0954-6820}},
keywords = {{hematological malignancies; measurable residual disease; precision diagnostics; precision medicine; targeted therapy}},
language = {{eng}},
number = {{4}},
pages = {{413--436}},
publisher = {{Wiley-Blackwell}},
series = {{Journal of Internal Medicine}},
title = {{Novel precision medicine approaches and treatment strategies in hematological malignancies}},
url = {{http://dx.doi.org/10.1111/joim.13697}},
doi = {{10.1111/joim.13697}},
volume = {{294}},
year = {{2023}},
}