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本文引用的文献

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Blood Cancer J. 2022 Nov 2;12(11):147. doi: 10.1038/s41408-022-00746-x.
2
The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms.世界卫生组织血液淋巴肿瘤分类第五版:髓系和组织细胞/树突状肿瘤。
Leukemia. 2022 Jul;36(7):1703-1719. doi: 10.1038/s41375-022-01613-1. Epub 2022 Jun 22.
3
Acute erythroid leukemia is enriched in NUP98 fusions: a report from the Children's Oncology Group.急性红细胞性白血病富含 NUP98 融合基因:来自儿童肿瘤协作组的报告。
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4
Genomic subtyping and therapeutic targeting of acute erythroleukemia.急性红白血病的基因组亚型和治疗靶点。
Nat Genet. 2019 Apr;51(4):694-704. doi: 10.1038/s41588-019-0375-1. Epub 2019 Mar 29.
5
Erythroleukemia-historical perspectives and recent advances in diagnosis and management.红细胞白血病:历史视角与诊断和治疗的最新进展。
Blood Rev. 2018 Mar;32(2):96-105. doi: 10.1016/j.blre.2017.09.002. Epub 2017 Sep 18.
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[Biological Characteristics and Therapeutic Efficacy of 103 Patients with Acute Erythroleukemia].103例急性红白血病患者的生物学特征及治疗疗效
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8
Pure erythroid leukemia.纯红细胞白血病。
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[儿童急性红白血病的临床特征与预后]

[Clinical characteristics and prognosis of acute erythroleukemia in children].

作者信息

Zhu Ping, Qi Wen-Jing, Tao Ye-Qing, Cui Ding-Ding, Sheng Guang-Yao, Wang Chun-Mei

机构信息

Department of Children's Hematology and Oncology, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2025 Jan 15;27(1):88-93. doi: 10.7499/j.issn.1008-8830.2405138.

DOI:10.7499/j.issn.1008-8830.2405138
PMID:39825657
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11750245/
Abstract

OBJECTIVES

To investigate the clinical characteristics and prognosis of acute erythroleukemia (AEL) in children.

METHODS

A retrospective analysis was conducted on the clinical data, treatment, and prognosis of 8 children with AEL treated at the First Affiliated Hospital of Zhengzhou University from January 2013 to December 2023.

RESULTS

Among the 7 patients with complete bone marrow morphological analysis, 4 exhibited trilineage dysplasia, with a 100% incidence of erythroid dysplasia (7/7), a 71% incidence of myeloid dysplasia (5/7), and a 57% incidence of megakaryocytic dysplasia (4/7). Immunophenotyping revealed that myeloid antigens were primarily expressed as CD13, CD33, CD117, CD38, and CD123, with 4 cases expressing erythroid antigens CD71 and 2 cases expressing CD235a. Chromosomal analysis indicated that 2 cases presented with abnormal karyotypes, including +8 in one case and +4 accompanied by +6 in another; no complex karyotypes were observed. Genetic abnormalities were detected in 4 cases, with fusion genes including one case each of positive and positive, as well as mutations involving , , , and . Seven patients received chemotherapy, with 6 achieving remission after one course of treatment; 2 underwent hematopoietic stem cell transplantation, and all had disease-free survival. Follow-up (median follow-up time of 6 months) showed that only 3 patients survived (2 cases after hematopoietic stem cell transplantation and 1 case during treatment).

CONCLUSIONS

Children with AEL have unique clinical and biological characteristics, exhibit poor treatment response, and have a poor prognosis; however, hematopoietic stem cell transplantation may improve overall survival rates.

摘要

目的

探讨儿童急性红白血病(AEL)的临床特征及预后。

方法

对2013年1月至2023年12月在郑州大学第一附属医院治疗的8例AEL患儿的临床资料、治疗及预后进行回顾性分析。

结果

在7例进行了完整骨髓形态学分析的患者中,4例表现为三系发育异常,红系发育异常发生率为100%(7/7),髓系发育异常发生率为71%(5/7),巨核系发育异常发生率为57%(4/7)。免疫表型分析显示,髓系抗原主要表达为CD13、CD33、CD117、CD38和CD123,4例表达红系抗原CD71,2例表达CD235a。染色体分析表明,2例核型异常,其中1例为+8,另1例为+4伴+6;未观察到复杂核型。4例检测到基因异常,融合基因包括 阳性和 阳性各1例,以及涉及 、 、 、 和 的突变。7例患者接受化疗,6例在一个疗程后达到缓解;2例接受造血干细胞移植,均无病生存。随访(中位随访时间6个月)显示,仅3例患者存活(2例造血干细胞移植后,1例治疗期间)。

结论

儿童AEL具有独特的临床和生物学特征,治疗反应差,预后不良;然而,造血干细胞移植可能提高总体生存率。