Novel precision medicine approaches and treatment strategies in hematological malignancies.

Autor: Rosenquist R; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden., Bernard E; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, USA.; PRISM Center for Personalized Medicine, Gustave Roussy, Villejuif, France., Erkers T; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.; SciLifeLab, Stockholm, Sweden., Scott DW; BC Cancer's Centre for Lymphoid Cancer, Vancouver, Canada.; Department of Medicine, University of British Columbia, Vancouver, Canada., Itzykson R; Université Paris Cité, Génomes, biologie cellulaire et thérapeutique U944, INSERM, CNRS, Paris, France.; Département Hématologie et Immunologie, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France., Rousselot P; Department of Hematology, Centre Hospitalier de Versailles, Le Chesnay, France., Soulier J; Université Paris Cité, Génomes, biologie cellulaire et thérapeutique U944, INSERM, CNRS, Paris, France.; Hématologie Biologique, APHP, Hôpital Saint-Louis, Paris, France., Hutchings M; Department of Haematology and Phase 1 Unit, Rigshospitalet, Copenhagen, Denmark., Östling P; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.; SciLifeLab, Stockholm, Sweden., Cavelier L; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden., Fioretos T; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, Lund, Sweden.; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Clinical Genomics Lund, Science for Life Laboratory, Lund University, Lund, Sweden., Smedby KE; Department of Hematology, Karolinska University Hospital, Solna, Stockholm, Sweden.; Division of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
Jazyk: angličtina
Zdroj: Journal of internal medicine [J Intern Med] 2023 Oct; Vol. 294 (4), pp. 413-436. Date of Electronic Publication: 2023 Aug 07.
DOI: 10.1111/joim.13697
Abstrakt: 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.
(© 2023 The Authors. Journal of Internal Medicine published by John Wiley & Sons Ltd on behalf of Association for Publication of The Journal of Internal Medicine.)
Databáze: MEDLINE
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