Clinical characteristics and prognosis of acute erythroleukemia in children

ZHU Ping; QI Wen-Jing; TAO Ye-Qing; CUI Ding-Ding; SHENG Guang-Yao; WANG Chun-Mei

doi:10.7499/j.issn.1008-8830.2405138

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Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (1) : 88-93. DOI: 10.7499/j.issn.1008-8830.2405138

CLINICAL RESEARCH

Clinical characteristics and prognosis of acute erythroleukemia in children

ZHU Ping, QI Wen-Jing, TAO Ye-Qing, CUI Ding-Ding, SHENG Guang-Yao, WANG Chun-Mei

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Abstract

Objective 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 dup MLL positive and EVI1 positive, as well as mutations involving KRAS, NRAS, WT1, and UBTF. 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.

Key words

Acute erythroleukemia / Clinical characteristic / Prognosis / Child

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ZHU Ping, QI Wen-Jing, TAO Ye-Qing, CUI Ding-Ding, SHENG Guang-Yao, WANG Chun-Mei. Clinical characteristics and prognosis of acute erythroleukemia in children[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(1): 88-93 https://doi.org/10.7499/j.issn.1008-8830.2405138

References

1 程文秀, 孙爱宁, 陈苏宁, 等. 167例急性红白血病患者临床特征及预后分析[J]. 中华血液学杂志, 2014, 35(11): 970-973. PMID: 25417871. DOI: 10.3760/cma.j.issn.0253-2727.2014.11.004.
2 殷悦, 占文琪, 黄慧芳, 等. 103例急性红白血病患者生物学特征与疗效观察[J]. 中国实验血液学杂志, 2017, 25(3): 678-682. PMID: 28641617. DOI: 10.7534/j.issn.1009-2137.2017.03.008.
3 Almeida AM, Prebet T, Itzykson R, et al. Clinical outcomes of 217 patients with acute erythroleukemia according to treatment type and line: a retrospective multinational study[J]. Int J Mol Sci, 2017, 18(4): 837. PMID: 28420120. PMCID: PMC5412421. DOI: 10.3390/ijms18040837.
4 Wang SA, Patel KP, Pozdnyakova O, et al. Acute erythroid leukemia with <20% bone marrow blasts is clinically and biologically similar to myelodysplastic syndrome with excess blasts[J]. Mod Pathol, 2016, 29(10): 1221-1231. PMID: 27443511. DOI: 10.1038/modpathol.2016.118.
5 Bennett JM, Catovsky D, Daniel MT, et al. Proposed revised criteria for the classification of acute myeloid leukemia. A report of the French-American-British Cooperative Group[J]. Ann Intern Med, 1985, 103(4): 620-625. PMID: 3862359. DOI: 10.7326/0003-4819-103-4-620.
6 Reichard KK, Tefferi A, Abdelmagid M, et al. Pure (acute) erythroid leukemia: morphology, immunophenotype, cytogenetics, mutations, treatment details, and survival data among 41 Mayo Clinic cases[J]. Blood Cancer J, 2022, 12(11): 147. PMID: 36323674. PMCID: PMC9630502. DOI: 10.1038/s41408-022-00746-x.
7 Iacobucci I, Wen J, Meggendorfer M, et al. Genomic subtyping and therapeutic targeting of acute erythroleukemia[J]. Nat Genet, 2019, 51(4): 694-704. PMID: 30926971. PMCID: PMC6828160. DOI: 10.1038/s41588-019-0375-1.
8 叶向军, 卢兴国. 第5版世界卫生组织造血淋巴肿瘤MDS和AML分类更新解读[J]. 诊断学理论与实践, 2023, 22(5): 421-428. DOI: 10.16150/j.1671-2870.2023.05.002.
9 Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms[J]. Leukemia, 2022, 36(7): 1703-1719. PMID: 35732831. PMCID: PMC9252913. DOI: 10.1038/s41375-022-01613-1.
10 金洁, 周一乐. WHO 2022第5版急性髓系白血病分类解读[J]. 临床血液学杂志, 2023, 36(3): 145-147. DOI: 10.13201/j.issn.1004-2806.2023.03.001.
11 Chisholm KM, Heerema-McKenney AE, Choi JK, et al. Acute erythroid leukemia is enriched in NUP98 fusions: a report from the Children's Oncology Group[J]. Blood Adv, 2020, 4(23): 6000-6008. PMID: 33284945. PMCID: PMC7724911. DOI: 10.1182/bloodadvances.2020002712.
12 杨璐璐, 刘欣, 李庆, 等. 急性髓系白血病免疫分型特点及与疗效相关性分析[J]. 中国实验血液学杂志, 2014, 22(1): 1-5. PMID: 24598640. DOI: 10.7534/j.issn.1009-2137.2014.01.001.
13 Raess PW, Paessler ME, Bagg A, et al. α-Hemoglobin-stabilizing protein is a sensitive and specific marker of erythroid precursors[J]. Am J Surg Pathol, 2012, 36(10): 1538-1547. PMID: 22982896. PMCID: PMC3445287. DOI: 10.1097/PAS.0b013e31825fa501.
14 Wang W, Grier DD, Woo J, et al. Ferritin H is a novel marker of early erythroid precursors and macrophages[J]. Histopathology, 2013, 62(6): 931-940. PMID: 23611361. DOI: 10.1111/his.12101.
15 Cuneo A, Van Orshoven A, Michaux JL, et al. Morphologic, immunologic and cytogenetic studies in erythroleukaemia: evidence for multilineage involvement and identification of two distinct cytogenetic-clinicopathological types[J]. Br J Haematol, 1990, 75(3): 346-354. PMID: 2386768. DOI: 10.1111/j.1365-2141.1990.tb04347.x.
16 Santos FP, Bueso-Ramos CE, Ravandi F. Acute erythroleukemia: diagnosis and management[J]. Expert Rev Hematol, 2010, 3(6): 705-718. PMID: 21091147. DOI: 10.1586/ehm.10.62.
17 Santos FP, Faderl S, Garcia-Manero G, et al. Adult acute erythroleukemia: an analysis of 91 patients treated at a single institution[J]. Leukemia, 2009, 23(12): 2275-2280. PMID: 19741728. PMCID: PMC4217206. DOI: 10.1038/leu.2009.181.
18 平娜娜. 急性红白血病的基因组学研究[D]. 苏州: 苏州大学, 2015.
19 Grimwade D, Walker H, Oliver F, et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties[J]. Blood, 1998, 92(7): 2322-2333. PMID: 9746770.
20 Hasserjian RP, Zuo Z, Garcia C, et al. Acute erythroid leukemia: a reassessment using criteria refined in the 2008 WHO classification[J]. Blood, 2010, 115(10): 1985-1992. PMID: 20040759. PMCID: PMC2942006. DOI: 10.1182/blood-2009-09-243964.
21 Lessard M, Struski S, Leymarie V, et al. Cytogenetic study of 75 erythroleukemias[J]. Cancer Genet Cytogenet, 2005, 163(2): 113-122. PMID: 16337853. DOI: 10.1016/j.cancergencyto.2005.05.006.
22 Grossmann V, Bacher U, Haferlach C, et al. Acute erythroid leukemia (AEL) can be separated into distinct prognostic subsets based on cytogenetic and molecular genetic characteristics[J]. Leukemia, 2013, 27(9): 1940-1943. PMID: 23648669. DOI: 10.1038/leu.2013.144.
23 Cervera N, Carbuccia N, Garnier S, et al. Molecular characterization of acute erythroid leukemia (M6-AML) using targeted next-generation sequencing[J]. Leukemia, 2016, 30(4): 966-970. PMID: 26202927. DOI: 10.1038/leu.2015.198.
24 Wang W, Wang SA, Medeiros LJ, et al. Pure erythroid leukemia[J]. Am J Hematol, 2017, 92(3): 292-296. PMID: 28006859. DOI: 10.1002/ajh.24626.
25 胡东, 胡池玥, 何静. EVI1阳性急性髓系白血病临床特征及治疗探讨[J]. 临床血液学杂志, 2023, 36(3): 159-164. DOI: 10.13201/j.issn.1004-2806.2023.03.004.
26 蔺诗佳, 刘雨青, 姚浛, 等. EVI1基因阳性的急性髓系白血病患者临床特点及其造血干细胞移植的疗效观察[J]. 第三军医大学学报, 2020, 42(17): 1699-1705. DOI: 10.16016/j.1000-5404.202006024.
27 郑晨钰, 温贤浩, 郭玉霞, 等. EVI1基因在儿童急性髓细胞白血病中的表达及意义[J]. 临床儿科杂志, 2017, 35(5): 331-335. DOI: 10.3969/j.issn.1000-3606.2017.05.003.
28 Greco R, Petrungaro A, Recchia AG, et al. Treatment acute myeloid leukemia using cytoreductive chemotherapy cytarabine (Ara-C) followed azacitidine (AZA) maintenance: a real life single center experience[J]. Blood, 2016, 128(22): 5204. DOI: 10.1182/blood.V128.22.5204.5204.
29 Boddu P, Benton CB, Wang W, et al. Erythroleukemia-historical perspectives and recent advances in diagnosis and management[J]. Blood Rev, 2018, 32(2): 96-105. PMID: 28965757. PMCID: PMC5857409. DOI: 10.1016/j.blre.2017.09.002.
30 DeAngelo DJ, Stein EM, Ravandi F. Evolving therapies in acute myeloid leukemia: progress at last?[J]. Am Soc Clin Oncol Educ Book, 2016, 35: e302-e312. PMID: 27249736. DOI: 10.1200/EDBK_161258.