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ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation
Malcikova, J. (Brno, Czech Republic)
Tausch, E. (Ulm, Germany)
Rossi, D. (Bellinzona, Switzerland)
Sutton, L. A. (Stockholm, Sweden)
Soussi, T. (Stockholm, Sweden)
Zenz, T. (Zürich, Switzerland)
Kater, A. P. (Amsterdam, The Netherlands)
Niemann, C. U. (Copenhagen, Denmark)
González De Castro, David (Belfast, UK)
Davi, F. (Paris, France)
Gonzalez Diaz, M. (Salamanca, Spain)
Moreno, Carol (Institut d'Investigació Biomèdica Sant Pau)
Gaidano, G. (Novara, Italy)
Stamatopoulos, K. (Thessaloniki, Greece)
Rosenquist, R. (Stockholm, Sweden)
Stilgenbauer, S. (Ulm, Germany)
Ghia, P. (Milan, Italy)
Pospisilova, S. (Brno, Czech Republic)
Universitat Autònoma de Barcelona

Fecha: 2018
Resumen: 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.
Nota: Altres ajuts: Supported by the IMI 2 HARMONY JU under GA No 116026, this JU receives support from the EU's H2020 R&I program and EFPIA. Further supported by the EU Horizon 2020 projects MEDGENET 692298, AEGLE 644906, projects CEITEC 2020 (LQ1601), NCMG research infrastructure (LM2015091 funded by MEYS CR), project FNBr 65269705, FM MU ROZV/24/LF/2016, DFG (SFB1074, projects B1 and B2, and EU (FIRE CLL)), and the Swedish Cancer Society and the Swedish Research Council. Publication reflects only the authors' views and the Commission is not responsible for any use that may be made of the information it contains.
Derechos: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. Creative Commons
Lengua: Anglès
Documento: article ; article de revisió ; publishedVersion
Publicado en: Leukemia, Vol. 32 (february 2018) , p. 1070-1080, ISSN 1476-5551

DOI: 10.1038/s41375-017-0007-7
PMID: 29467486


11 p, 693.2 KB

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Documentos de investigación > Documentos de los grupos de investigación de la UAB > Centros y grupos de investigación (producción científica) > Ciencias de la salud y biociencias > Institut d'Investigació Biomèdica Sant Pau
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 Registro creado el 2018-06-18, última modificación el 2020-11-09



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