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

  • 1Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea
  • 2Brain Korea 21 Plus Project, Chonnam National University Medical School, Gwangju, Korea; 3 Department of Pediatrics, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea


  • 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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Seo Wan Kim, Seungjae Lee, Saeam Shin, Seung-Tae Lee
Ann Lab Med. 2022;42(6):693-696.    doi: 10.3343/alm.2022.42.6.693.

The First Case of Acute Myeloid Leukemia With t(10;11)(p13;q21);PICALM-MLLT10 Rearrangement Presenting With Extensive Skin Involvement
Min-Seung Park, Hyun-Young Kim, Jae Joon Lee, Duck Cho, Chul Won Jung, Hee-Jin Kim, Sun-Hee Kim
Ann Lab Med. 2023;43(3):310-314.    doi: 10.3343/alm.2023.43.3.310.


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