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Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Experimental and Clinical Oncology.
Univ Wurzburg, Inst Pathol, Wurzburg, Germany.;Comprehens Canc Ctr Mainfranken CCC MF, Wurzburg, Germany..
Univ Cambridge, Dept Pathol, Div Mol Histopathol, Cambridge, England..
Univ Piemonte Orientale, Dept Translat Med, Div Haematol, Novara, Italy..
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2016 (English)In: Haematologica, ISSN 0390-6078, E-ISSN 1592-8721, Vol. 101, no 9, 1002-1009 p.Article, review/survey (Refereed) Published
Abstract [en]

Similar to the inherent clinical heterogeneity of most, if not all, lymphoma entities, the genetic landscape of these tumors is markedly complex in the majority of cases, with a rapidly growing list of recurrently mutated genes discovered in recent years by next-generation sequencing technology. Whilst a few genes have been implied to have diagnostic, prognostic and even predictive impact, most gene mutations still require rigorous validation in larger, preferably prospective patient series, to scrutinize their potential role in lymphoma diagnostics and patient management. In selected entities, a predominantly mutated gene is identified in almost all cases (e.g. Waldenstrom's macroglobulinemia/lymphoplasmacytic lymphoma and hairy-cell leukemia), while for the vast majority of lymphomas a quite diverse mutation pattern is observed, with a limited number of frequently mutated genes followed by a seemingly endless tail of genes with mutations at a low frequency. Herein, the European Expert Group on NGS-based Diagnostics in Lymphomas (EGNL) summarizes the current status of this ever-evolving field, and, based on the present evidence level, segregates mutations into the following categories: i) immediate impact on treatment decisions, ii) diagnostic impact, iii) prognostic impact, iv) potential clinical impact in the near future, or v) should only be considered for research purposes. In the coming years, coordinated efforts aiming to apply targeted next-generation sequencing in large patient series will be needed in order to elucidate if a particular gene mutation will have an immediate impact on the lymphoma classification, and ultimately aid clinical decision making.

Place, publisher, year, edition, pages
2016. Vol. 101, no 9, 1002-1009 p.
National Category
Hematology
Identifiers
URN: urn:nbn:se:uu:diva-316639DOI: 10.3324/haematol.2015.134510ISI: 000392547200003PubMedID: 27582569OAI: oai:DiVA.org:uu-316639DiVA: diva2:1078634
Funder
Swedish Cancer SocietySwedish Research CouncilEU, European Research Council, 692298
Available from: 2017-03-06 Created: 2017-03-06 Last updated: 2017-03-06Bibliographically approved

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