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ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia—update on methodological approaches and results interpretation
Masaryk Univ, Univ Hosp Brno, Dept Internal Med Hematol & Oncol, Brno, Czech Republic; Masaryk Univ, Med Fac, Brno, Czech Republic; Masaryk Univ, Cent European Inst Technol, Brno, Czech Republic.
Ulm Univ, Dept Internal Med 3, Ulm, Germany.
Oncol Inst Southern Switzerland, Inst Oncol Res, Hematol, Bellinzona, Switzerland.
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.
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2018 (English)In: Leukemia, ISSN 0887-6924, E-ISSN 1476-5551, Vol. 32, no 5, p. 1070-1080Article, review/survey (Refereed) Published
Abstract [en]

In chronic lymphocytic leukemia (CLL), TP53 gene defects, due to deletion of the 17p13 locus and/or mutation(s) within the TP53 gene, are associated with resistance to chemoimmunotherapy and a particularly dismal clinical outcome. On these grounds, analysis of TP53 aberrations has been incorporated into routine clinical diagnostics to improve patient stratification and optimize therapeutic decisions. The predictive implications of TP53 aberrations have increasing significance in the era of novel targeted therapies, i.e., inhibitors of B-cell receptor (BcR) signaling and anti-apoptotic BCL2 family members, owing to their efficacy in patients with TP53 defects. In this report, the TP53 Network of the European Research Initiative on Chronic Lymphocytic Leukemia (ERIC) presents updated recommendations on the methodological approaches for TP53 mutation analysis. Moreover, it provides guidance to ensure that the analysis is performed in a timely manner for all patients requiring treatment and that the data is interpreted and reported in a consistent, standardized, and accurate way. Since next-generation sequencing technologies are gaining prominence within diagnostic laboratories, this report also offers advice and recommendations for the interpretation of TP53 mutation data generated by this methodology.

Place, publisher, year, edition, pages
Nature Publishing Group, 2018. Vol. 32, no 5, p. 1070-1080
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Cancer and Oncology Hematology
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URN: urn:nbn:se:uu:diva-358110DOI: 10.1038/s41375-017-0007-7ISI: 000431769800003PubMedID: 29467486OAI: oai:DiVA.org:uu-358110DiVA, id: diva2:1241702
Funder
EU, Horizon 2020, 692298; 644906; LQ1601German Research Foundation (DFG), SFB1074Swedish Cancer SocietySwedish Research Council, FNBr 65269705; FM MU ROZV/24/LF/2016Available from: 2018-08-24 Created: 2018-08-24 Last updated: 2018-08-24Bibliographically approved

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Sutton, Lesley AnnRosenquist, Richard

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