title: Discovery of somatic mutations in the progression of chronic myeloid leukemia by whole-exome sequencing.
abstract: We performed whole-exome sequencing in samples representing accelerated phase (AP) and blastic crisis (BC) in a subject with chronic myeloid leukemia (CML). A total of 12.74 Gb clean data were generated, achieving a mean depth coverage of 64.45 and 69.53 for AP and BC samples, respectively, of the target region. A total of 148 somatic variants were detected, including 76 insertions and deletions (indels), 64 single-nucleotide variations (SNV), and 8 structural variations (SV). On the basis of annotation and functional prediction analysis, we identified 3 SNVs and 6 SVs that showed a potential association with CML progression. Among the genes that harbor the identified variants, GATA2 has previously been reported to play important roles in the progression from AP to BC in CML. Identification of these genes will allow us to gain a better understanding of the pathological mechanism of CML and represents a critical advance toward new molecular diagnostic tests for the development of potential therapies for CML.
authors.affiliation: Provincial Clinical College, Fujian Medical University, Fuzhou, Fujian, China hyi8070@126.com.
authors.forename: Y
authors.initials: Y
authors.lastname: Huang
authors.affiliation: Fujian Institute of Hematology, Union Hospital, Fujian Medical University, Fuzhou, Fujian, China.
authors.forename: J
authors.initials: J
authors.lastname: Zheng
authors.affiliation: Fujian Institute of Hematology, Union Hospital, Fujian Medical University, Fuzhou, Fujian, China.
authors.forename: J D
authors.initials: JD
authors.lastname: Hu
authors.affiliation: Provincial Clinical College, Fujian Medical University, Fuzhou, Fujian, China.
authors.forename: Y A
authors.initials: YA
authors.lastname: Wu
authors.affiliation: Fujian Institute of Hematology, Union Hospital, Fujian Medical University, Fuzhou, Fujian, China.
authors.forename: X Y
authors.initials: XY
authors.lastname: Zheng
authors.affiliation: Fujian Institute of Hematology, Union Hospital, Fujian Medical University, Fuzhou, Fujian, China.
authors.forename: T B
authors.initials: TB
authors.lastname: Liu
authors.affiliation: Department of Nephrology, Fujian Provincial Hospital, Fujian Medical University, Fuzhou, China.
authors.forename: F L
authors.initials: FL
authors.lastname: Chen
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001752:Blast Crisis / Q000235:genetics / Q000473:pathology*; D018450:Disease Progression; D059472:Exome; D050989:GATA2 Transcription Factor / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics / Q000473:pathology*; D015465:Leukemia, Myeloid, Accelerated Phase / Q000235:genetics / Q000473:pathology*; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human