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

Molecular Cancer

Letter to the Editor

Lenka Hovorkova¹  Jan Zuna¹  Simona Soverini²  Adela Benesova³  Jana Linhartova³  Monika Jaruskova⁴  Hana Klamova⁴  Katerina Machova Polakova⁴ 

[1] CLIP, Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University Prague and University Hospital Motol, Prague, Czech Republic;Department of Experimental, Diagnostic and Specialty Medicine, Institute of Hematology “L. e A. Seragnoli”, University of Bologna, Bologna, Italy;Institute of Hematology and Blood Transfusion, Prague, Czech Republic;Institute of Hematology and Blood Transfusion, Prague, Czech Republic;Institute of Clinical and Experimental Hematology of First Faculty of Medicine and Institute of Hematology and Blood Transfusion, Charles University, Prague, Czech Republic;

关键词: BCR-ABL;    Cancer;    MRD;    CML;    SNP;    NGS;   

DOI  :  10.1186/s12943-015-0363-8

 received in 2014-10-22, accepted in 2015-04-08,  发布年份 2015

来源: Springer

【 摘 要 】

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.

【 授权许可】

Unknown   
© Linhartova et al.; licensee BioMed Central. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.