Ann Lab Med.  2023 May;43(3):315-318. 10.3343/alm.2023.43.3.315.

The First Case of Acute Myeloid Leukemia With a Novel Five-way Variant Translocation of RUNX1–RUNX1T1

Affiliations
  • 1Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea
  • 2Division of Hematooncology, Department of Internal Medicine, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea


Figure

  • Fig. 1 Hematological and cytogenetic characteristics of the AML patient with novel complex RUNX1–RUNX1T1 translocation. (A) Bone marrow aspirate (Wright–Giemsa stain, magnification, ×400) and (B) G-banding karyotyping showing t(5;10;10;21;8) (q22;q22;?p15;q22;q22) and del(11)(q14q23). Arrows indicate translocated regions. (C) G-banding metaphase. (D) Dual-color FISH analysis using RUNX1 (green)- and RUNX1T1 (red)-specific probes (arrows). One fusion signal is present on der(8), the other on der(5) (arrow heads). (E) Idiogram of G-banding indicating that the mutation likely occurred through a two-step mechanism in which t(8;21)(q22;q22) occurred first, and then the genetic material of der(21) was translocated to chromosome 5.


Reference

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