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.
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.
Institute of Hematology and Blood Transfusion, Prague, Czech Republic. jana.linhartova@uhkt.cz.
Jana
J
Linhartova
CLIP, Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University Prague and University Hospital Motol, Prague, Czech Republic. lenka.hovorkova@lfmotol.cuni.cz.
Lenka
L
Hovorkova
Department of Experimental, Diagnostic and Specialty Medicine, Institute of Hematology "L. e A. Seragnoli", University of Bologna, Bologna, Italy. simona.soverini@tin.it.
Simona
S
Soverini
Institute of Hematology and Blood Transfusion, Prague, Czech Republic. adela.brouckova@uhkt.cz.
Adela
A
Benesova
Institute of Hematology and Blood Transfusion, Prague, Czech Republic. monika.jaruskova@uhkt.cz.|Institute of Clinical and Experimental Hematology of First Faculty of Medicine and Institute of Hematology and Blood Transfusion, Charles University, Prague, Czech Republic. monika.jaruskova@uhkt.cz.
Monika
M
Jaruskova
Institute of Hematology and Blood Transfusion, Prague, Czech Republic. hana.klamova@uhkt.cz.|Institute of Clinical and Experimental Hematology of First Faculty of Medicine and Institute of Hematology and Blood Transfusion, Charles University, Prague, Czech Republic. hana.klamova@uhkt.cz.
Hana
H
Klamova
CLIP, Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University Prague and University Hospital Motol, Prague, Czech Republic. jan.zuna@lfmotol.cuni.cz.
Jan
J
Zuna
Institute of Hematology and Blood Transfusion, Prague, Czech Republic. katerina.machova@uhkt.cz.|Institute of Clinical and Experimental Hematology of First Faculty of Medicine and Institute of Hematology and Blood Transfusion, Charles University, Prague, Czech Republic. katerina.machova@uhkt.cz.
Katerina
K
Machova Polakova
D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
D016044:Fusion Proteins, bcr-abl