CHIP variants and immunophenotypic features of HLA-DR(–) acute myeloid leukemia without PML::RARA fusion gene

• 발행기관: 대한의학유전학회
• 저자명: Youngeun Lee Hye Ryoun Kim
• 간행물 정보: 『대한의학유전학회지』제22권 제1호, 16~22쪽, 전체 7쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2025.06.30

국문 초록

Purpose: HLA-DR(–) is a well-known characteristic of acute promyelocytic leukemia (APL), but also observed in some acute myeloid leukemia (AML) patients without PML::RARA fusion gene. We investigated the prevalence of clonal hematopoiesis of indeterminate potential (CHIP), immunophenotypic and cytogenetic abnormalities of HLA-DR(–) AML patients by comparing with those of APL patients. Materials and Methods: Thirteen patients diagnosed with HLA-DR(–) AML were enrolled. Twenty patients diagnosed with APL were assigned as a control group. Next-generation sequencing of CHIP genes (58 genes) was performed. Bone marrow or peripheral blood samples were used for flow cytometry to immunophenotype the leukemic blasts according to the laboratory protocol. Results: In HLA-DR(–) AML patients, CD117 positivity was less frequent. CD13 showed lower expression level. The median number of variants was three per patient, which was significantly higher than in the APL group. NPM1 variants were found in five patients. FLT3-ITD was frequently co-existed with NPM1 variant. Conclusion: HLA-DR(–) AML patients exhibit a higher frequency of complex genetic abnormalities (three or more), which may explain why their prognosis is worse than that of APL patients, despite the frequent observation of NPM1. It is necessary to gather the results for each gene and conduct further evaluation.

목차

Introduction

Materials and Methods

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Acknowledgements

Funding

Authors’ Contributions

References

키워드

HLA-DR antigens Clonal hematopoiesis Immunophenotyping Leukemia promyelocytic acute