Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation

Jikyo Lee, Sung Min Kim, Soonok Kim, Jiwon Yun, Dajeong Jeong, Young Eun Lee, Eun Youn Roh, Dongsoon Lee

Research output: Contribution to journalArticlepeer-review

Abstract

The translocation (3;21)(q26.2;q22.1) is a unique cytogenetic aberration that characterizes acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) in patients with AML and myelodysplastic syndrome (MDS) or a therapy-related myeloid neoplasm. Using multigene target sequencing and FISH, we investigated the clinical and genomic profiles of patients with t(3;21) over the past 10 years. The frequency of t(3;21) among myeloid malignancies was very low (0.2%). Half of the patients had a history of cancer treatment and the remaining patients had de novo MDS. Twenty-one somatic variants were detected in patients with t(3;21), including in CBL, GATA2, and SF3B1. Recurrent variants in RUNX1 (c.1184A>C, p.Glu395Ala) at the same site were detected in two patients. None of the patients with t(3;21) harbored germline predisposition mutations for myeloid neoplasms. MECOM rearrangement was detected at a higher rate using FISH than using G-banding, suggesting that FISH is preferable for monitoring. Although survival of patients with t(3;21) is reportedly poor, the survival of patients with t(3;21) in this study was not poor when compared with that of other AML patients in Korea.

Original languageEnglish
Pages (from-to)590-596
Number of pages7
JournalAnnals of laboratory medicine
Volume42
Issue number5
DOIs
StatePublished - 1 Sep 2022

Keywords

  • Acute myeloid leukemia
  • Chromosomal translocation
  • Gene rearrangement
  • Myelodysplastic syndrome

Fingerprint

Dive into the research topics of 'Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation'. Together they form a unique fingerprint.

Cite this