Ann Lab Med.  2021 Jul;41(4):443-446. 10.3343/alm.2021.41.4.443.

The First Korean Case of NUP98-NSD1 and a Novel SNRK-ETV6 Fusion in a Pediatric Therapy-related Acute Myeloid Leukemia Patient Detected by Targeted RNA Sequencing

• Lim HJ
• Lee JH
• Lee YE
• Baek HJ
• Kook H
• Park JH
• Lee SY
• Choi HW
• Choi HJ
• Kee SJ
• Shin JH
• Shin MG

• KMID: 2512728
• DOI: http://doi.org/10.3343/alm.2021.41.4.443

Figure

• 

  Fig. 1 Schematic representation of the NUP98-NSD1 (A–C) and novel SNRK-ETV6 (D–F) gene fusions and proteins. (A) Integrative genomics viewer (IGV) image showing the NUP98-NSD1 breakpoints with 171 supporting junction read counts. (B) Direct sequencing confirmed the identical breakpoint causing an in-frame fusion of NUP98-NSD1. (C) The predicted fusion protein translated from the NUP98-NSD1 transcript based on a merged sequence produced by STAR-Fusion (ver 1.8.1), which contains domains similar to a previous report [2] but is shorter. (D) IGV image showing the novel SNRK-ETV6 fusion breakpoints with 484 supporting junction read counts. (E) Direct sequencing confirmed the identical breakpoint causing a novel in-frame fusion of SNRK-ETV6. (F) The predicted fusion protein translated from the SNRK-ETV6 transcript based on the merged sequence produced by STAR-Fusion (ver 1.8.1).

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