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

J. Malcikova; E. Tausch; D. Rossi; L. A. Sutton; T. Soussi; T. Zenz; A. P. Kater; C. U. Niemann; D. Gonzalez; F. Davi; M. Gonzalez Diaz; C. Moreno; G. Gaidano; K. Stamatopoulos; R. Rosenquist; S. Stilgenbauer; P. Ghia; S. Pospisilova

doi:10.1038/s41375-017-0007-7

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

J. Malcikova, E. Tausch, D. Rossi, L. A. Sutton, T. Soussi, T. Zenz, A. P. Kater, C. U. Niemann, D. Gonzalez, F. Davi, M. Gonzalez Diaz, C. Moreno, G. Gaidano, K. Stamatopoulos, R. Rosenquist, S. Stilgenbauer, P. Ghia^*, S. Pospisilova

^*Corresponding author for this work

Department of Clinical Medicine

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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.

Original language	English
Journal	Leukemia
Volume	32
Issue number	5
Pages (from-to)	1070-1080
ISSN	0887-6924
DOIs	https://doi.org/10.1038/s41375-017-0007-7
Publication status	Published - 1 May 2018

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ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia—update on methodological approaches and results interpretationFinal published version, 693 KBLicence: CC BY-NC-SA

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Malcikova, J., Tausch, E., Rossi, D., Sutton, L. A., Soussi, T., Zenz, T., Kater, A. P., Niemann, C. U., Gonzalez, D., Davi, F., Gonzalez Diaz, M., Moreno, C., Gaidano, G., Stamatopoulos, K., Rosenquist, R., Stilgenbauer, S., Ghia, P., & Pospisilova, S. (2018). ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia - Update on methodological approaches and results interpretation. Leukemia, 32(5), 1070-1080. https://doi.org/10.1038/s41375-017-0007-7

Malcikova, J, Tausch, E, Rossi, D, Sutton, LA, Soussi, T, Zenz, T, Kater, AP, Niemann, CU, Gonzalez, D, Davi, F, Gonzalez Diaz, M, Moreno, C, Gaidano, G, Stamatopoulos, K, Rosenquist, R, Stilgenbauer, S, Ghia, P & Pospisilova, S 2018, 'ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia - Update on methodological approaches and results interpretation', Leukemia, vol. 32, no. 5, pp. 1070-1080. https://doi.org/10.1038/s41375-017-0007-7

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title = "ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia - Update on methodological approaches and results interpretation",

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.",

author = "J. Malcikova and E. Tausch and D. Rossi and Sutton, {L. A.} and T. Soussi and T. Zenz and Kater, {A. P.} and Niemann, {C. U.} and D. Gonzalez and F. Davi and {Gonzalez Diaz}, M. and C. Moreno and G. Gaidano and K. Stamatopoulos and R. Rosenquist and S. Stilgenbauer and P. Ghia and S. Pospisilova",

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AU - Malcikova, J.

AU - Tausch, E.

AU - Rossi, D.

AU - Sutton, L. A.

AU - Soussi, T.

AU - Zenz, T.

AU - Kater, A. P.

AU - Niemann, C. U.

AU - Gonzalez, D.

AU - Davi, F.

AU - Gonzalez Diaz, M.

AU - Moreno, C.

AU - Gaidano, G.

AU - Stamatopoulos, K.

AU - Rosenquist, R.

AU - Stilgenbauer, S.

AU - Ghia, P.

AU - Pospisilova, S.

PY - 2018/5/1

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N2 - 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.

AB - 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.

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

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