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Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes

Authors
 Namsoo Kim  ;  Seungmin Hahn  ;  Yu Jeong Choi  ;  Hyunsoo Cho  ;  Haerim Chung  ;  Ji Eun Jang  ;  Chuhl Joo Lyu  ;  Seung-Tae Lee  ;  Jong Rak Choi  ;  June-Won Cheong  ;  Saeam Shin 
Citation
 CANCER CELL INTERNATIONAL, Vol.24(1) : 174, 2024-05 
Journal Title
CANCER CELL INTERNATIONAL
Issue Date
2024-05
Keywords
Acute myeloid leukemia ; Gene rearrangement ; Next-generation sequencing ; RNA sequencing ; Relapse
Abstract
Introduction: Acute myeloid leukemia (AML) is a complex hematologic malignancy characterized by uncontrolled proliferation of myeloid precursor cells within bone marrow. Despite advances in understanding of its molecular underpinnings, AML remains a therapeutic challenge due to its high relapse rate and clonal evolution.

Methods: In this retrospective study, we analyzed data from 24 AML patients diagnosed at a single institution between January 2017 and August 2023. Comprehensive genetic analyses, including chromosomal karyotyping, next-generation sequencing, and gene fusion assays, were performed on bone marrow samples obtained at initial diagnosis and relapse. Clinical data, treatment regimens, and patient outcomes were also documented.

Results: Mutations in core genes of FLT3, NPM1, DNMT3A, and IDH2 were frequently discovered in diagnostic sample and remained in relapse sample. FLT3-ITD, TP53, KIT, RUNX1, and WT1 mutation were acquired at relapse in one patient each. Gene fusion assays revealed stable patterns, while chromosomal karyotype analyses indicated a greater diversity of mutations in relapsed patients. Clonal evolution patterns varied, with some cases showing linear or branching evolution and others exhibiting no substantial change in core mutations between diagnosis and relapse.

Conclusions: Our study integrates karyotype, gene rearrangements, and gene mutation results to provide a further understanding of AML heterogeneity and evolution. We demonstrate the clinical relevance of specific mutations and clonal evolution patterns, emphasizing the need for personalized therapies and measurable residual disease monitoring in AML management. By bridging the gap between genetics and clinical outcome, we move closer to tailored AML therapies and improved patient prognoses.
Files in This Item:
T202403080.pdf Download
DOI
10.1186/s12935-024-03368-4
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Shin, Saeam(신새암) ORCID logo https://orcid.org/0000-0003-1501-3923
Lyu, Chuhl Joo(유철주) ORCID logo https://orcid.org/0000-0001-7124-7818
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Jang, Ji Eun(장지은) ORCID logo https://orcid.org/0000-0001-8832-1412
Cheong, June-Won(정준원) ORCID logo https://orcid.org/0000-0002-1744-0921
Chung, Hae Rim(정해림) ORCID logo https://orcid.org/0000-0002-7926-9285
Cho, Hyunsoo(조현수) ORCID logo https://orcid.org/0000-0003-2651-6403
Choi, Yu Jeong(최유정)
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
Hahn, Seung Min(한승민) ORCID logo https://orcid.org/0000-0001-9832-6380
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/199732
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