A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples
Abstract TP53 plays a pivotal role in the process of DNA repair and apoptosis. In 10–20% of patients with chronic lymphocytic leukemia (CLL), the TP53 pathway is affected. In this study, we analyzed the TP53 mutation status in 2435 consecutive CLL samples, including 1287 diagnostic samples and 1148...
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| Veröffentlicht in: | Leukemia research 2011-07, Vol.35 (7), p.889-898 |
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| creator | Pekova, Sona Mazal, Oldrich Cmejla, Radek Hardekopf, David W Plachy, Radek Zejskova, Lenka Haugvicova, Renata Jancuskova, Tereza Karas, Michal Koza, Vladimir Smolej, Lukas Bezdickova, Ludmila Kozak, Tomas |
| description | Abstract TP53 plays a pivotal role in the process of DNA repair and apoptosis. In 10–20% of patients with chronic lymphocytic leukemia (CLL), the TP53 pathway is affected. In this study, we analyzed the TP53 mutation status in 2435 consecutive CLL samples, including 1287 diagnostic samples and 1148 samples during follow-up, using FASAY (Functional Analysis of Separated Alleles in Yeast) and direct sequencing. In a cohort of 1287 diagnostic CLL samples, we identified 237 cases with TP53 variants, including mutations, temperature-sensitive variants, deletions, insertions and aberrant splicing variants (18.4%). In 1148 follow-up samples, no TP53 clonal evolution was observed. |
| doi_str_mv | 10.1016/j.leukres.2010.12.016 |
| format | Article |
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In 10–20% of patients with chronic lymphocytic leukemia (CLL), the TP53 pathway is affected. In this study, we analyzed the TP53 mutation status in 2435 consecutive CLL samples, including 1287 diagnostic samples and 1148 samples during follow-up, using FASAY (Functional Analysis of Separated Alleles in Yeast) and direct sequencing. In a cohort of 1287 diagnostic CLL samples, we identified 237 cases with TP53 variants, including mutations, temperature-sensitive variants, deletions, insertions and aberrant splicing variants (18.4%). In 1148 follow-up samples, no TP53 clonal evolution was observed.</description><identifier>ISSN: 0145-2126</identifier><identifier>EISSN: 1873-5835</identifier><identifier>DOI: 10.1016/j.leukres.2010.12.016</identifier><identifier>PMID: 21232794</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Alternative Splicing ; Biomarkers, Tumor - genetics ; Biomarkers, Tumor - metabolism ; Blotting, Western ; Chromosome Deletion ; CLL ; FASAY ; Female ; Follow-Up Studies ; Gene Expression Profiling ; Hematology, Oncology and Palliative Medicine ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell - diagnosis ; Leukemia, Lymphocytic, Chronic, B-Cell - genetics ; Male ; Mutagenesis, Site-Directed ; Mutation - genetics ; Oligonucleotide Array Sequence Analysis ; Prognosis ; Reverse Transcriptase Polymerase Chain Reaction ; RNA, Messenger - genetics ; TP53 ; Tumor Suppressor Protein p53 - genetics</subject><ispartof>Leukemia research, 2011-07, Vol.35 (7), p.889-898</ispartof><rights>Elsevier Ltd</rights><rights>2010 Elsevier Ltd</rights><rights>Copyright © 2010 Elsevier Ltd. 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In 10–20% of patients with chronic lymphocytic leukemia (CLL), the TP53 pathway is affected. In this study, we analyzed the TP53 mutation status in 2435 consecutive CLL samples, including 1287 diagnostic samples and 1148 samples during follow-up, using FASAY (Functional Analysis of Separated Alleles in Yeast) and direct sequencing. In a cohort of 1287 diagnostic CLL samples, we identified 237 cases with TP53 variants, including mutations, temperature-sensitive variants, deletions, insertions and aberrant splicing variants (18.4%). In 1148 follow-up samples, no TP53 clonal evolution was observed.</description><subject>Alternative Splicing</subject><subject>Biomarkers, Tumor - genetics</subject><subject>Biomarkers, Tumor - metabolism</subject><subject>Blotting, Western</subject><subject>Chromosome Deletion</subject><subject>CLL</subject><subject>FASAY</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Gene Expression Profiling</subject><subject>Hematology, Oncology and Palliative Medicine</subject><subject>Humans</subject><subject>Leukemia, Lymphocytic, Chronic, B-Cell - diagnosis</subject><subject>Leukemia, Lymphocytic, Chronic, B-Cell - genetics</subject><subject>Male</subject><subject>Mutagenesis, Site-Directed</subject><subject>Mutation - genetics</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Prognosis</subject><subject>Reverse Transcriptase Polymerase Chain Reaction</subject><subject>RNA, Messenger - genetics</subject><subject>TP53</subject><subject>Tumor Suppressor Protein p53 - genetics</subject><issn>0145-2126</issn><issn>1873-5835</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNUkur1DAYDaJ4x6s_QcnOVcckTfpwoQyDLxhQcPYhTb86mZs2NV97pWv_uCkzunCjEEg4nPM9cg4hzznbcsaLV-eth_kuAm4FWzGxTegDsuFVmWeqytVDsmFcqkxwUdyQJ4hnxpiqef2Y3CQsF2UtN-TnjtrQjxFOMKC7B4rT3C40dPT4ReW0nyczuTAgdQO1pxgGZ6lf-vEU7DKt7zQE9M68prvB-AUdrlouqpK2znwbAq4sM7SUc1nRLngffmTzSPeHA0XTjx7wKXnUGY_w7HrfkuP7d8f9x-zw-cOn_e6QWan4lInSFoUUqslZa3gpWqGgVY2UTVcVtivytFxRy9pABSrtV5emUVIyVpW16Gx-S15eyo4xfJ8BJ907tOC9GSDMqKtS8jod9R9MoXJWFytTXZg2BsQInR6j601cNGd69Umf9dUnvfqkudAJTboX1w5z00P7R_XbmER4eyFA-pB7B1GjdTBYaF0EO-k2uH-2ePNXBetdss_4O1gAz2GOyTHUXGMS6K9rWNas8BSTgguW_wLu3bod</recordid><startdate>20110701</startdate><enddate>20110701</enddate><creator>Pekova, Sona</creator><creator>Mazal, Oldrich</creator><creator>Cmejla, Radek</creator><creator>Hardekopf, David W</creator><creator>Plachy, Radek</creator><creator>Zejskova, Lenka</creator><creator>Haugvicova, Renata</creator><creator>Jancuskova, Tereza</creator><creator>Karas, Michal</creator><creator>Koza, Vladimir</creator><creator>Smolej, Lukas</creator><creator>Bezdickova, Ludmila</creator><creator>Kozak, Tomas</creator><general>Elsevier Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>7T5</scope><scope>H94</scope></search><sort><creationdate>20110701</creationdate><title>A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples</title><author>Pekova, Sona ; 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In 10–20% of patients with chronic lymphocytic leukemia (CLL), the TP53 pathway is affected. In this study, we analyzed the TP53 mutation status in 2435 consecutive CLL samples, including 1287 diagnostic samples and 1148 samples during follow-up, using FASAY (Functional Analysis of Separated Alleles in Yeast) and direct sequencing. In a cohort of 1287 diagnostic CLL samples, we identified 237 cases with TP53 variants, including mutations, temperature-sensitive variants, deletions, insertions and aberrant splicing variants (18.4%). In 1148 follow-up samples, no TP53 clonal evolution was observed.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>21232794</pmid><doi>10.1016/j.leukres.2010.12.016</doi><tpages>10</tpages></addata></record> |
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| ispartof | Leukemia research, 2011-07, Vol.35 (7), p.889-898 |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Alternative Splicing Biomarkers, Tumor - genetics Biomarkers, Tumor - metabolism Blotting, Western Chromosome Deletion CLL FASAY Female Follow-Up Studies Gene Expression Profiling Hematology, Oncology and Palliative Medicine Humans Leukemia, Lymphocytic, Chronic, B-Cell - diagnosis Leukemia, Lymphocytic, Chronic, B-Cell - genetics Male Mutagenesis, Site-Directed Mutation - genetics Oligonucleotide Array Sequence Analysis Prognosis Reverse Transcriptase Polymerase Chain Reaction RNA, Messenger - genetics TP53 Tumor Suppressor Protein p53 - genetics |
| title | A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples |
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