Mate pair sequencing outperforms fluorescence in situ hybridization in the genomic characterization of multiple myeloma

@article{Smadbeck2019MatePS,
  title={Mate pair sequencing outperforms fluorescence in situ hybridization in the genomic characterization of multiple myeloma},
  author={James B. Smadbeck and Jess F Peterson and Kathryn E. Pearce and Beth A. Pitel and Andrea Lebron Figueroa and Michael M. Timm and Dragan Jevremovic and Min Shi and A. Keith Stewart and Esteban Braggio and Daniel L. Riggs and Peter Leif Bergsagel and George Vasmatzis and Hutton M Kearney and Nicole L. Hoppman and Rhett P Ketterling and Shaji K. Kumar and Sundararajan Vincent Rajkumar and Patricia T Greipp and Linda B. Baughn},
  journal={Blood Cancer Journal},
  year={2019},
  volume={9}
}
Fluorescence in situ hybridization (FISH) is currently the gold-standard assay to detect recurrent genomic abnormalities of prognostic significance in multiple myeloma (MM). Since most translocations in MM involve a position effect with heterogeneous breakpoints, we hypothesize that FISH has the potential to miss translocations involving these regions. We evaluated 70 bone marrow samples from patients with plasma cell dyscrasia by FISH and whole-genome mate-pair sequencing (MPseq). Thirty cases… 
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Mate-pair sequencing (MPseq), a next-generation sequencing (NGS)-based technology utilized to detect copy number and structural abnormalities with high resolution and precision throughout the genome, was performed and revealed a NUP214/ABL1 gene fusion that has been demonstrated to be sensitive to TKI therapy.
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