RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia

• Published in: Scientific reports 2020-11, Vol.10 (1), p.20119-20119, Article 20119
• Main Authors: Kim, TaeHyung, Moon, Joon Ho, Ahn, Jae-Sook, Ahn, Seo-Yeon, Jung, Sung-Hoon, Yang, Deok-Hwan, Lee, Je-Jung, Shin, Myung-Geun, Choi, Seung Hyun, Lee, Ja-yeon, Tyndel, Marc S., Lee, Hui Young, Kim, Kyoung Ha, Cai, Yu, Lee, Yoo Jin, Sohn, Sang Kyun, Min, Yoo Hong, Cheong, June-Won, Kim, Hyeoung-Joon, Zhang, Zhaolei, Kim, Dennis Dong Hwan
• Format: Article
• Language: English
• Subjects: 631/67/1990; 631/67/69; 692/53/2422; Adolescent; Adult; Aged; Aged, 80 and over; Core Binding Factor Alpha 2 Subunit - genetics; Core Binding Factors - genetics; Female; Gene Expression Regulation, Leukemic; Gene Rearrangement; Humanities and Social Sciences; Humans; Leukemia, Myeloid, Acute - genetics; Leukemia, Myeloid, Acute - mortality; Leukemia, Myeloid, Acute - pathology; Male; Middle Aged; multidisciplinary; Mutation; Myosin Heavy Chains - genetics; Neoplasm, Residual - genetics; Oncogene Proteins, Fusion - genetics; Prognosis; Proof of Concept Study; RUNX1 Translocation Partner 1 Protein - genetics; Science; Science (multidisciplinary); Sequence Analysis, RNA - methods; Young Adult
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-020-76933-2

DNA sequencing-based measurable residual disease (MRD) detection has shown to be clinically relevant in AML. However, the same methodology cannot be applied to fusion gene-driven subtypes of AML such as core-binding factor AML (CBF-AML). Here in this study, we evaluated the effectiveness of using DNA and RNA sequencing in MRD detection and in tracking clonal dynamics in CBF-AML. Using RNA-seq, we were able to quantify expression levels of RUNX1 - RUNX1T1 and CBFB - MYH11 at diagnosis and their levels of reduction during remission (P