HLA-DR阳性急性早幼粒细胞白血病（APML）伴隐蔽性PML::RARA融合。

IF 0.6 4区医学 Q4 HEMATOLOGY

Journal of Hematopathology Pub Date : 2025-04-11 DOI:10.1007/s12308-025-00631-z

Ke Xu, Evan Vitsaras, Temenuzhka Boneva, Elisabeth Nacheva, Rajeev Gupta

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引用次数: 0

摘要

我们报告的情况下，42岁的女性表现为血细胞减少和异常早幼粒细胞在血膜。流式细胞术检测早幼粒细胞HLA-DR阳性。PML::RARA快速FISH阴性。髓系NGS鉴定PML::RARA融合，经分子核型和PCR证实。她接受ATRA和ATO治疗以达到分子缓解。该病例强调了使用快速RNA测序识别隐性融合和罕见融合以及结合形态学，免疫表型，细胞遗传学和分子分析以确保正确诊断和最佳治疗的重要性。

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HLA-DR positive acute promyelocytic leukaemia (APML) with cryptic PML::RARA fusion.

We report the case of a 42-year-old female presented with cytopenia and abnormal promyelocytes on blood film. The promyelocytes were HLA-DR positive by flow cytometry. The rapid FISH for PML::RARA was negative. Myeloid NGS identified PML::RARA fusion, which was confirmed by molecular karyotyping and PCR. She was treated with ATRA and ATO to complete molecular remission. This case highlighted the importance of using rapid RNA sequencing to identify cryptic fusion and rare fusions and combining morphologic, immunophenotypic, cytogenetic and molecular analyses to ensure correct diagnosis and optimal management.

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来源期刊

Journal of Hematopathology HEMATOLOGYPATHOLOGY-PATHOLOGY

CiteScore

0.80

自引率

0.00%

发文量

期刊介绍： The Journal of Hematopathology aims at providing pathologists with a special interest in hematopathology with all the information needed to perform modern pathology in evaluating lymphoid tissues and bone marrow. To this end the journal publishes reviews, editorials, comments, original papers, guidelines and protocols, papers on ancillary techniques, and occasional case reports in the fields of the pathology, molecular biology, and clinical features of diseases of the hematopoietic system. The journal is the unique reference point for all pathologists with an interest in hematopathology. Molecular biologists involved in the expanding field of molecular diagnostics and research on lymphomas and leukemia benefit from the journal, too. Furthermore, the journal is of major interest for hematologists dealing with patients suffering from lymphomas, leukemias, and other diseases. The journal is unique in its true international character. Especially in the field of hematopathology it is clear that there are huge geographical variations in incidence of diseases. This is not only locally relevant, but due to globalization, relevant for all those involved in the management of patients.