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

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.

• Authors: Jikyo Lee, Sung Min Kim, Soonok Kim, Jiwon Yun, Dajeong Jeong, Young Eun Lee, Eun-Youn Roh, Dong Soon Lee
• Journal: Annals of laboratory medicine (Ann Lab Med) Vol. 42 Issue 5 Pg. 590-596 (09 01 2022) ISSN: 2234-3814 [Electronic] Korea (South)
• PMID: 35470277 (Publication Type: Journal Article)

Chemical References

• MDS1 and EVI1 Complex Locus Protein
• MECOM protein, human

Topics

• Chromosome Aberrations
• Genomics
• Humans
• Leukemia, Myeloid, Acute (diagnosis, genetics, pathology)
• MDS1 and EVI1 Complex Locus Protein (genetics)
• Myelodysplastic Syndromes (diagnosis, genetics, pathology)
• Myeloproliferative Disorders (genetics)
• Translocation, Genetic