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Haematologica. 2016 Sep;101(9):1002-9. doi: 10.3324/haematol.2015.134510.

Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond.

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Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Sweden
Institute of Pathology, University of Würzburg, Germany and Comprehensive Cancer Center Mainfranken (CCC MF), Germany.
Division of Molecular Histopathology, Department of Pathology, University of Cambridge, UK.
Division of Haematology, Department of Translational Medicine, University of Eastern Piedmont, Novara, Italy.
Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Histopathology, Royal Marsden Hopsital, Fulham Road, London, UK.
Division of Experimental Oncology and Department of Onco-Hematology, Università Vita-Salute San Raffaele and IRCCS Instituto Scientifico San Raffaele, Milan, Italy.
Department of Pathology, AP-HP, Groupe hospitalier Henri Mondor-Albert Chenevier, Créteil INSERM U955, Université Paris-Est, Créteil, France.
Hemathopatology Section, Department of Pathology, Hospital Clinic and Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, Spain.
Institute of Applied Biosciences, CERTH, Thessaloniki, Greece.


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. Waldenström'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.

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