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A novel BCR-ABL1 fusion gene identified by next-generation sequencing in chronic myeloid leukemia

Overview of attention for article published in Molecular Cytogenetics, June 2016
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Title
A novel BCR-ABL1 fusion gene identified by next-generation sequencing in chronic myeloid leukemia
Published in
Molecular Cytogenetics, June 2016
DOI 10.1186/s13039-016-0257-5
Pubmed ID
Authors

Xiaodong Lyu, Jingke Yang, Xianwei Wang, Jieying Hu, Bing Liu, Yu Zhao, Zhen Guo, Bingshan Liu, Ruihua Fan, Yongping Song

Abstract

BCR-ABL1 fusion proteins contain constitutively active tyrosine kinases that are potential candidates for targeted therapy with tyrosine kinase inhibitors such as imatinib in chronic myeloid leukemia (CML). However, uncharacterized BCR-ABL1 fusion genes can be missed by quantitative RT-PCR (qRT-PCR)-based routine screening methods, causing adverse effect on drug selection and treatment outcome. In this study, we demonstrated that the next-generation sequencing (NGS) can be employed to overcome this obstacle. Through NGS, we identified a novel BCR-ABL1 fusion gene with breakpoints in the BCR intron 14 and the ABL1 intron 2, respectively, in a rare case of CML. Its mRNA with an e14a3 junction was then detected using customized RT-PCR followed by Sanger sequencing. Subsequently, the patient received targeted medicine imatinib initially at 400 mg/day, and later 300 mg/day due to intolerance reactions. With this personalized treatment, the patient's condition was significantly improved. Interestingly, this novel fusion gene encodes a fusion protein containing a compromised SH3 domain, which is usually intact in the majority of CML cases, suggesting that dysfunctional SH3 domain may be associated with altered drug response and unique clinicopathological manifestations observed in this patient. We identified a novel BCR-ABL1 fusion gene using NGS in a rare case of CML while routine laboratory procedures were challenged, demonstrating the power of NGS as a diagnostic tool for detecting novel genetic mutations. Moreover, our new finding regarding the novel fusion variant will provide useful insights to improve the spectrum of the genomic abnormalities recognizable by routine molecular screening.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 4 21%
Researcher 3 16%
Student > Bachelor 3 16%
Lecturer > Senior Lecturer 2 11%
Student > Doctoral Student 2 11%
Other 1 5%
Unknown 4 21%
Readers by discipline Count As %
Medicine and Dentistry 7 37%
Biochemistry, Genetics and Molecular Biology 6 32%
Agricultural and Biological Sciences 1 5%
Unknown 5 26%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 August 2016.
All research outputs
#5,935,349
of 8,200,733 outputs
Outputs from Molecular Cytogenetics
#137
of 235 outputs
Outputs of similar age
#167,371
of 262,945 outputs
Outputs of similar age from Molecular Cytogenetics
#3
of 9 outputs
Altmetric has tracked 8,200,733 research outputs across all sources so far. This one is in the 24th percentile – i.e., 24% of other outputs scored the same or lower than it.
So far Altmetric has tracked 235 research outputs from this source. They receive a mean Attention Score of 1.8. This one is in the 36th percentile – i.e., 36% of its peers scored the same or lower than it.
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We're also able to compare this research output to 9 others from the same source and published within six weeks on either side of this one. This one has scored higher than 6 of them.