Format

Send to

Choose Destination
Leukemia. 2018 May;32(5):1070-1080. doi: 10.1038/s41375-017-0007-7. Epub 2018 Feb 2.

ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation.

Author information

1
Department of Internal Medicine - Hematology and Oncology, University Hospital Brno and Medical Faculty, Masaryk University, Brno, Czech Republic.
2
Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
3
Department of Internal Medicine III, Ulm University, Ulm, Germany.
4
Hematology, Oncology Institute of Southern Switzerland, Institute of Oncology Research, Bellinzona, Switzerland.
5
Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
6
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
7
Université Pierre et Marie Curie, Paris, France.
8
INSERM, U1138, Centre de Recherche des Cordeliers, Paris, France.
9
Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska, Stockholm, Sweden.
10
Division of Hematology, University Hospital Zürich, University of Zürich, Zürich, Switzerland.
11
Department of Hematology, Academic Medical Center, Amsterdam, The Netherlands.
12
Department of Hematology, Rigshospitalet, Copenhagen, Denmark.
13
Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, UK.
14
Department of Hematology, Hôpital Pitié-Salpêtière, AP-HP, Sorbonne Universités-UPMC University, Paris, France.
15
Centro de Investigación del Cancer and Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), University of Salamanca, Salamanca, Spain.
16
Department of Haematology, Hospital de la Santa Creu I Sant Pau, Autonomous University of Barcelona, Barcelona, Spain.
17
Division of Haematology, Department of Translational Medicine, University of Eastern Piedmont, Novara, Italy.
18
Institute of Applied Biosciences, CERTH, Thessaloniki, Greece.
19
Division of Experimental Oncology, IRCCS San Raffaele Scientific Institute, Università Vita-Salute San Raffaele, Milan, Italy. ghia.paolo@hsr.it.
20
Department of Internal Medicine - Hematology and Oncology, University Hospital Brno and Medical Faculty, Masaryk University, Brno, Czech Republic. pospisilova.sarka@fnbrno.cz.
21
Central European Institute of Technology, Masaryk University, Brno, Czech Republic. pospisilova.sarka@fnbrno.cz.

Abstract

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.

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center