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Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights

 Namsoo Kim  ;  Yu Jeong Choi  ;  Seung-Tae Lee  ;  Jong Rak Choi  ;  Chuhl Joo Lyu  ;  Saeam Shin  ;  June-Won Cheong 
 FRONTIERS IN ONCOLOGY, Vol.14 : 1365614, 2024-03 
Journal Title
Issue Date
aplastic anemia ; clonal evolution ; genomic profile ; hematologic malignancy ; secondary cancer
Background: Aplastic anemia (AA), characterized by hematopoietic stem cell deficiency, can evolve into different hematologic malignancies. Our understanding of the genetic basis and mechanisms of this progression remains limited. Methods: We retrospectively studied 9 acquired AA patients who later developed hematologic malignancies. Data encompassed clinical, laboratory, karyotype, and next-generation sequencing (NGS) information. We explored chromosomal alterations and mutation profiles to uncover genetic changes underlying the transition. Results: Nine AA patients developed myelodysplastic syndrome (seven patients), acute myeloid leukemia (one patient), or chronic myelomonocytic leukemia (one patient). Among eight patients with karyotype results at secondary malignancy diagnosis, monosomy 7 was detected in three. Trisomy 1, der(1;7), del(6q), trisomy 8, and del(12p) were detected in one patient each. Among three patients with NGS results at secondary malignancy diagnosis, KMT2C mutation was detected in two patients. Acquisition of a PTPN11 mutation was observed in one patient who underwent follow-up NGS testing during progression from chronic myelomonocytic leukemia to acute myeloid leukemia. Conclusion: This study highlights the genetic dynamics in the progression from AA to hematologic malignancy. Monosomy 7’s prevalence and the occurrence of PTPN11 mutations suggest predictive and prognostic significance. Clonal evolution underscores the complexity of disease progression.
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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
Cheong, June-Won(정준원) ORCID logo https://orcid.org/0000-0002-1744-0921
Choi, Yu Jeong(최유정)
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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