ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation
Language English Country Great Britain, England Media print-electronic
Document type Journal Article, Practice Guideline, Research Support, Non-U.S. Gov't, Review
PubMed
29467486
PubMed Central
PMC5940638
DOI
10.1038/s41375-017-0007-7
PII: 10.1038/s41375-017-0007-7
Knihovny.cz E-resources
- MeSH
- Leukemia, Lymphocytic, Chronic, B-Cell genetics MeSH
- Genes, p53 genetics MeSH
- Humans MeSH
- DNA Mutational Analysis methods MeSH
- High-Throughput Nucleotide Sequencing methods MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
- Practice Guideline MeSH
- Geographicals
- Europe MeSH
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.
Central European Institute of Technology Masaryk University Brno Czech Republic
Centre for Cancer Research and Cell Biology Queen's University Belfast Belfast UK
Department of Hematology Academic Medical Center Amsterdam The Netherlands
Department of Hematology Rigshospitalet Copenhagen Denmark
Department of Internal Medicine 3 Ulm University Ulm Germany
Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden
Department of Oncology Pathology Karolinska Institutet Cancer Center Karolinska Stockholm Sweden
Division of Hematology University Hospital Zürich University of Zürich Zürich Switzerland
INSERM U1138 Centre de Recherche des Cordeliers Paris France
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