Ann Lab Med.  2023 Jan;43(1):92-95. 10.3343/alm.2023.43.1.92.

First Case of ETV6–RUNX1 Fusion in Adult De Novo Acute Myeloid Leukemia Detected Using Targeted RNA Sequencing

  • 1Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea


  • Fig. 1 Results of bone marrow aspirate analysis. Blasts have a moderate nuclear-cytoplasmic ratio, round nuclei with finely dispersed chromatin, and a few distinct nucleoli, some with tiny vacuoles. (A) Wright-Giemsa stain, ×1,000. (B) Myeloperoxidase stain, ×1,000. (C) Non-specific esterase stain, ×1,000.

  • Fig. 2 ETV6-RUNX1 fusion finding with various methods. (A) Integrative genomics viewer image showing the ETV6–RUNX1 breakpoints. Fourteen fusion reads were found within 722 ETV6 reference reads. (B) Reverse transcription-PCR results showing the fusion between ETV6 exon 5 and RUNX1 exon 3 (428 bp). (C) FISH on the interphase nucleus with red signals (ETV6), green signals (RUNX1), and yellow signals (ETV6–RUNX1 fusion site, arrow).


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