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ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia—update on methodological approaches and results interpretation
Open accessAbstract
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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Cites
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587
Evolution and impact of subclonal mutations in chronic lymphocytic leukemia
Landau, D. A., Carter, S. L., Stojanov, P., McKenna, A., Stevenson, K., Lawrence, M. S., Sougnez, C., Stewart, C., Sivachenko, A., Wang, L., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.019 · Cited by 1,379
Cited by
Sharman, J. P., Egyed, M., Jurczak, W., Skarbnik, A., Pagel, J. M., Flinn, I. W., Kamdar, M., Munir, T., Walewska, R., Corbett, G., et al. (2020) · The Lancet · doi:10.1016/s0140-6736(20)30262-2 · Cited by 631
Self-citationEichhorst, B., Robak, T., Montserrat, E., Ghia, P., Niemann, C. U., Kater, A. P., Gregor, M., Cymbalista, F., Buske, C., Hillmen, P., et al. (2021) · Annals of Oncology · doi:10.1016/j.annonc.2020.09.019 · Cited by 585
Self-citationRoberts, A. W., Ma, S., Kipps, T. J., Coutre, S. E., Davids, M. S., Eichhorst, B., Hallek, M., Byrd, J. C., Humphrey, K., Zhou, L., et al. (2019) · Blood · doi:10.1182/blood.2018882555 · Cited by 178
Self-citationIntegrin Signaling Shaping BTK-Inhibitor Resistance
Polcik, L., Dannewitz Prosseda, S., Pozzo, F., Zucchetto, A., Gattei, V., & Hartmann, T. N. (2022) · Cells · doi:10.3390/cells11142235 · Cited by 15
Metadata
- Authors
- 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., & on behalf of the European Research Initiative on Chronic Lymphocytic Leukemia (ERIC) — TP53 network
- Venue
- Leukemia
- Published
- 2018-02-02
- Volume
- 32
- Issue
- 5
- Pages
- 1070-1080
- ISSN
- 0887-6924 (ISSN-L)
- 1476-5551
- OpenAlex
- W2789078984
- Cited by
- 204
- References
- 2
- FWCI
- 12.14
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- The paper
- 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., & on behalf of the European Research Initiative on Chronic Lymphocytic Leukemia (ERIC) — TP53 network. (2018). ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia—update on methodological approaches and results interpretation. Leukemia. https://doi.org/10.1038/s41375-017-0007-7
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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