Characterization of 46 patient-specific BCR-ABL1 fusions and detection of SNPs upstream and downstream the breakpoints in chronic myeloid leukemia using next generation sequencing
Language English Country England, Great Britain Media electronic
Document type Letter, Research Support, Non-U.S. Gov't
PubMed
25928096
PubMed Central
PMC4409993
DOI
10.1186/s12943-015-0363-8
PII: 10.1186/s12943-015-0363-8
Knihovny.cz E-resources
- MeSH
- Fusion Proteins, bcr-abl genetics MeSH
- Leukemia, Myelogenous, Chronic, BCR-ABL Positive genetics MeSH
- Polymorphism, Single Nucleotide genetics MeSH
- Humans MeSH
- High-Throughput Nucleotide Sequencing methods MeSH
- Check Tag
- Humans MeSH
- Publication type
- Letter MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Fusion Proteins, bcr-abl MeSH
In chronic myeloid leukemia, the identification of individual BCR-ABL1 fusions is required for the development of personalized medicine approach for minimal residual disease monitoring at the DNA level. Next generation sequencing (NGS) of amplicons larger than 1000 bp simplified and accelerated a process of characterization of patient-specific BCR-ABL1 genomic fusions. NGS of large regions upstream and downstream the individual breakpoints in BCR and ABL1 genes, respectively, also provided information about the sequence variants such are single nucleotide polymorphisms.
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Cross NC, White HE, Müller MC, Saglio G, Hochhaus A. Standardized definitions of molecular response in chronic myeloid leukemia. Leukemia. 2012;26:2172–2175. doi: 10.1038/leu.2012.104. PubMed DOI
Falchi L, Kantarjian HM, Wang X, Verma D, Quintás-Cardama A, O'Brien S, et al. Significance of deeper molecular responses in patients with chronic myeloid leukemia in early chronic phase treated with tyrosine kinase inhibitors. Am J Hematol. 2013;88:1024–1029. doi: 10.1002/ajh.23560. PubMed DOI PMC
Hehlmann R, Müller MC, Lauseker M, Hanfstein B, Fabarius A, Schreiber A, et al. Deep molecular response is reached by the majority of patients treated with imatinib, predicts survival, and is achieved more quickly by optimized high-dose imatinib: results from the randomized CML-study IV. J Clin Oncol. 2014;32:415–423. doi: 10.1200/JCO.2013.49.9020. PubMed DOI
Ross DM, Branford S, Seymour JF, Schwarer AP, Arthur C, Yeung DT, et al. Safety and efficacy of imatinib cessation for CML patients with stable undetectable minimal residual disease: results from the TWISTER study. Blood. 2013;122:515–522. doi: 10.1182/blood-2013-02-483750. PubMed DOI
Rousselot P, Charbonnier A, Cony-Makhoul P, Agape P, Nicolini FE, Varet B, et al. Loss of major molecular response as a trigger for restarting tyrosine kinase inhibitor therapy in patients with chronic-phase chronic myelogenous leukemia who have stopped imatinib after durable undetectable disease. J Clin Oncol. 2014;32:424–430. doi: 10.1200/JCO.2012.48.5797. PubMed DOI
Bartley PA, Ross DM, Latham S, Martin-Harris MH, Budgen B, Wilczek V, et al. Sensitive detection and quantification of minimal residual disease in chronic myeloid leukaemia using nested quantitative PCR for BCR-ABL DNA. Int J Lab Hematol. 2010;32:e222–228. doi: 10.1111/j.1751-553X.2010.01236.x. PubMed DOI
Morley AA, Latham S, Brisco MJ, Sykes PJ, Sutton R, Hughes E, et al. Sensitive and specific measurement of minimal residual disease in acute lymphoblastic leukemia. J Mol Diagn. 2009;11:201–210. doi: 10.2353/jmoldx.2009.080048. PubMed DOI PMC
Sobrinho-Simões M, Wilczek V, Score J, Cross NC, Apperley JF, Melo JV. In search of the original leukemic clone in chronic myeloid leukemia patients in complete molecular remission after stem cell transplantation or imatinib. Blood. 2010;116:1329–1335. doi: 10.1182/blood-2009-11-255109. PubMed DOI
Waller CF, Dennebaum G, Feldmann C, Lange W. Long-template DNA polymerase chain reaction for the detection of the bcr/abl translocation in patients with chronic myelogenous leukemia. Clin Cancer Res. 1999;5:4146–4151. PubMed
Krumbholz M, Karl M, Tauer JT, Thiede C, Rascher W, Suttorp M, et al. Genomic BCR-ABL1 breakpoints in pediatric chronic myeloid leukemia. Genes Chromosomes Cancer. 2012;51:1045–1053. doi: 10.1002/gcc.21989. PubMed DOI
Ross DM, Branford S, Seymour JF, Schwarer AP, Arthur C, Bartley PA, et al. Patients with chronic myeloid leukemia who maintain a complete molecular response after stopping imatinib treatment have evidence of persistent leukemia by DNA PCR. Leukemia. 2010;24:1719–1724. doi: 10.1038/leu.2010.185. PubMed DOI
Score J, Calasanz MJ, Ottman O, Pane F, Yeh RF, Sobrinho-Simões MA, et al. Analysis of genomic breakpoints in p190 and p210 BCR-ABL indicate distinct mechanisms of formation. Leukemia. 2010;24:1742–1750. doi: 10.1038/leu.2010.174. PubMed DOI
Burmeister T, Gröger D, Kühn A, Hoelzer D, Thiel E, Reinhardt R. Fine structure of translocation breakpoints within the major breakpoint region in BCR-ABL1-positive leukemias. DNA Repair (Amst) 2011;10:1131–1137. doi: 10.1016/j.dnarep.2011.08.010. PubMed DOI
Mattarucchi E, Spinelli O, Rambaldi A, Pasquali F, Lo Curto F, Campiotti L, et al. Molecular monitoring of residual disease in chronic myeloid leukemia by genomic DNA compared with conventional mRNA analysis. J Mol Diagn. 2009;11:482–487. doi: 10.2353/jmoldx.2009.080150. PubMed DOI PMC
Karl M, Krumbholz M, Tauer JT, Jacobs U, Metzler M, Suttorp M. Identification of the genomic BCR-ABL1 fusion sequence from blood specimen stored on filter paper. Leuk Res. 2013;37:117–119. doi: 10.1016/j.leukres.2012.10.007. PubMed DOI
Shibata Y, Malhotra A, Dutta A. Detection of DNA fusion junctions for BCR-ABL translocations by Anchored ChromPET. Genome Med. 2010; doi:10.1186/gm191. PubMed PMC
Zaliova M, Fronkova E, Krejcikova K, Muzikova K, Mejstrikova E, Stary J, et al. Quantification of fusion transcript reveals a subgroup with distinct biological properties and predicts relapse in BCR/ABL-positive ALL: implications for residual disease monitoring. Leukemia. 2009;23:944–951. doi: 10.1038/leu.2008.386. PubMed DOI
Zuna J, Zaliova M, Muzikova K, Meyer C, Lizcova L, Zemanova Z, et al. Acute leukemias with ETV6/ABL1 (TEL/ABL) fusion: poor prognosis and prenatal origin. Genes Chromosomes Cancer. 2010;49:873–884. doi: 10.1002/gcc.20796. PubMed DOI
Zuna J, Hrusak O, Kalinova M, Muzikova K, Stary J, Trka J. TEL/AML1 positivity in childhood ALL: average or better prognosis? Czech Paediatric Haematology Working Group. Leukemia. 1999;13:22–24. doi: 10.1038/sj.leu.2401256. PubMed DOI
Wang J, Cai Y, Ren C, Ittmann M. Expression of variant TMPRSS2/ERG fusion messenger RNAs is associated with aggressive prostate cancer. Cancer Res. 2006;66:8347–8351. doi: 10.1158/0008-5472.CAN-06-1966. PubMed DOI
Choi YL, Takeuchi K, Soda M, Inamura K, Togashi Y, Hatano S, et al. Identification of novel isoforms of the EML4-ALK transforming gene in non-small cell lung cancer. Cancer Res. 2008;68:4971–4976. doi: 10.1158/0008-5472.CAN-07-6158. PubMed DOI