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Genetic landscape and deregulated pathways in B-cell lymphoid malignancies
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Experimental and Clinical Oncology. Uppsala University, Science for Life Laboratory, SciLifeLab. Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
CIBER Canc, Inst Invest Biomed August Pi & Sunyer IDIBAPS, Barcelona, Spain..
Aix Marseille Univ, CNRS, INSERM, CIML, Marseille, France..
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2017 (English)In: Journal of Internal Medicine, ISSN 0954-6820, E-ISSN 1365-2796, Vol. 282, no 5, p. 371-394Article in journal (Refereed) Published
Abstract [en]

With the introduction of next-generation sequencing, the genetic landscape of the complex group of B-cell lymphoid malignancies has rapidly been unravelled in recent years. This has provided important information about recurrent genetic events and identified key pathways deregulated in each lymphoma subtype. In parallel, there has been intense search and development of novel types of targeted therapy that 'hit' central mechanisms in lymphoma pathobiology, such as BTK, PI3K or BCL2 inhibitors. In this review, we will outline the current view of the genetic landscape of selected entities: follicular lymphoma, diffuse large B-cell lymphoma, mantle cell lymphoma, chronic lymphocytic leukaemia and marginal zone lymphoma. We will detail recurrent alterations affecting important signalling pathways, that is the B-cell receptor/NF-kappa B pathway, NOTCH signalling, JAK-STAT signalling, p53/DNA damage response, apoptosis and cell cycle regulation, as well as other perhaps unexpected cellular processes, such as immune regulation, cell migration, epigenetic regulation and RNA processing. Whilst many of these pathways/processes are commonly altered in different lymphoid tumors, albeit at varying frequencies, others are preferentially targeted in selected B-cell malignancies. Some of these genetic lesions are either involved in disease ontogeny or linked to the evolution of each disease and/or specific clinicobiological features, and some of them have been demonstrated to have prognostic and even predictive impact. Future work is especially needed to understand the therapy-resistant disease, particularly in patients treated with targeted therapy, and to identify novel targets and therapeutic strategies in order to realize true precision medicine in this clinically heterogeneous patient group.

Place, publisher, year, edition, pages
2017. Vol. 282, no 5, p. 371-394
Keywords [en]
B-cell lymphomas, deregulated pathways, genetic aberrations, next-generation sequencing, prognosis
National Category
Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) Cancer and Oncology
Identifiers
URN: urn:nbn:se:uu:diva-339735DOI: 10.1111/joim.12633ISI: 000413307000003OAI: oai:DiVA.org:uu-339735DiVA, id: diva2:1177818
Conference
Symposium on Targeted Therapy in B-Cell Malignancies, SEP 29-30, 2016, Karolinska Inst, Stockholm, SWEDEN
Funder
Swedish Cancer SocietySwedish Research CouncilThe Karolinska Institutet's Research FoundationSwedish Childhood Cancer Foundation
Note

R. Rosenquist and S. Beà contributed equally to this work.

Available from: 2018-01-26 Created: 2018-01-26 Last updated: 2018-01-26Bibliographically approved

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