Novel precision medicine approaches and treatment strategies in hematological malignancies

Richard Rosenquist, Elsa Bernard, Tom Erkers, David W. Scott, Raphael Itzykson, Philippe Rousselot, Jean Soulier, Martin Hutchings, Päivi Östling, Lucia Cavelier, Thoas Fioretos, Karin E. Smedby

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)413-436
Number of pages24
JournalJournal of Internal Medicine
Issue number4
Publication statusPublished - 2023

Subject classification (UKÄ)

  • Hematology

Free keywords

  • hematological malignancies
  • measurable residual disease
  • precision diagnostics
  • precision medicine
  • targeted therapy


Dive into the research topics of 'Novel precision medicine approaches and treatment strategies in hematological malignancies'. Together they form a unique fingerprint.

Cite this