成人HNRNPH1::ERG阳性急性髓性白血病明显缓解率低、预后差1例报告及文献复习

IF 1.4 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL
Yanyan Lu, Rui Wei, Jianlan Li, Lianrong Xu
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引用次数: 0

摘要

理由:急性髓系白血病(AML)源于t(5;21)(q35;q22)易位,转录后翻译,形成HNRNPH1::ERG融合基因,是一组罕见的复发性染色体异常髓系恶性肿瘤。目前仅报道1例成人急性髓性白血病。在这里,我们通过RNA测序(RNA-seq)确定了一个不同的成人HNRNPH1::ERG阳性AML病例,具有明确的断点位置,我们讨论了临床,治疗,病理和分子机制,并回顾了文献。患者关注:男,54岁,发热乏力10天来我科就诊。诊断:通过形态学、免疫学、细胞遗传学和分子生物学(MICM)分型诊断为急性髓性白血病(AML),确认HNRNPH1-ERG融合基因。干预措施:多次诱导化疗联合靶向治疗。结果:他于2024年2月去世。经验教训:在我们的综述中,迄今为止仅报道了1例成人AML病例。综上所述的5例研究,HNRNPH1::ERG阳性AML患者的原始细胞计数明显较高,且更常伴有罕见的基因突变,这是成人HNRNPH1::ERG阳性AML患者预后较差,缓解率较低的特点。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The adult HNRNPH1::ERG positive acute myeloid leukemia with clear lower remission and worse prognosis: A case report and review of the literature.

Rationale: Acute myeloid leukemia (AML) derived from t(5;21)(q35;q22) translocation, post-transcriptional translation, forming the HNRNPH1::ERG fusion gene is a rare group of recurrent chromosomal abnormality myeloid malignancies. Only 1 adult case of AML has been reported so far. Here we identified a disparate adult case of HNRNPH1::ERG positive AML with clear breakpoint locations by utilizing The RNA sequencing(RNA-seq) and we addressed the clinical, treatment, pathological and molecular mechanism, along with a review of the literature.

Patients concerns: A 54-year-old man visited our department with fever and fatigue for 10 days.

Diagnoses: Diagnosed with acute myeloid leukemia (AML) through morphology, immunology, Cytogenetics, and Molecular biology (MICM) typing, with a confirmed HNRNPH1-ERG fusion gene.

Interventions: Multiple induction chemotherapy combined with targeted therapy was performed.

Outcomes: He died in February 2024.

Lessons: In our review, Only 1 adult case of AML has been reported so far. To summarize the 5 cases in the studies, the HNRNPH1::ERG positive AML cases had a significantly higher blast cell counts and more frequently companied with rare gene mutations, which characterized poorer prognosis and lower remission in adult HNRNPH1::ERG positive AML.

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来源期刊
Medicine
Medicine 医学-医学:内科
CiteScore
2.80
自引率
0.00%
发文量
4342
审稿时长
>12 weeks
期刊介绍: Medicine is now a fully open access journal, providing authors with a distinctive new service offering continuous publication of original research across a broad spectrum of medical scientific disciplines and sub-specialties. As an open access title, Medicine will continue to provide authors with an established, trusted platform for the publication of their work. To ensure the ongoing quality of Medicine’s content, the peer-review process will only accept content that is scientifically, technically and ethically sound, and in compliance with standard reporting guidelines.
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