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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
