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Background: The goal was to investigate the clinical features and diagnostic methods of children with t(8;21)/ AML1-ETO positive acute myeloid leukemia with basophilic granulocytosis.
Methods: The clinical features and diagnostic methods of a case of children t(8; 21)/AML1-ETO positive acute myeloid leukemia with basophilic granulocytosis were retrospectively analyzed, and the literature at domestic and overseas was reviewed.
Results: The patient is a boy, 11 years old. The main cause was intermittent fever for 20 days with a temperature up to 39.7℃. The density of the heart chambers and great blood vessels is reduced, suggesting anemia. Abdominal B-ultrasound shows that the liver is slightly enlarged and the spleen is enlarged. Blood routine test: WBC: 7.26 x 10⁹/L, RBC: 1.32 x 10¹²/L, Hb: 44 g/L, Plt: 29 x 10⁹/L, the percentage of reticulocytes: 0.51%, and leukocyte clas-sification showed 54% of primitive naive cells. The erythrocyte sedimentation rate is 70 mm/hour, and the immunoglobulin A is 4.56 g/L. Bone marrow smear: the original cells accounted for 78.5%, with different sizes, irregular shapes and irregular edges. Some of the cells showed cytoplasmic protrusions with varying cell mass, stained grayish blue, some of them showed light staining of the nearnuclear region in the cytoplasm, and some of them showed azophil particles. Most of the nuclei were round or quasi-round, dented and twisted, and the chromatin was detailed with several nucleoli. Early basophils are easily detectable, accounting for 11.5%. Cytogenetic examination: The t(8;21)(q22;q22) chromosomal translocation is detected, that is, the AML1-ETO fusion gene is positive. Flow cytometry results show that the abnormal cell population accounts for 66.21% of the nucleated cells, strongly expressing MPO, CD34, HLA-DR, expressing CD38, CD33, CD123, CD13, partially expressing CD15, CD19, weakly expressing CD117, and not expressing CD7, cCD79a, cCD3, TDT, cCD79a and other myeloid and lymphoid markers, which are abnormal myeloid blast cells, consistent with the phenotype of AML. Myeloid blast cells abnormally express CD19. In addition, abnormal myeloid immature cells can be seen, accounting for 17.27% of the nucleated cells, with the phenotype of CD117 partially positive, HLA-DR negative, CD123 positive, CD203c positive, CD13 dim, CD33 positive, and early basophils cannot be excluded. The clinical diagnosis is AML1-ETO positive acute myeloid leukemia with basophilia.
Conclusions: AML1-ETO fusion gene positive acute myeloid leukemia with basophilic granulocytosis is a rare type of leukemia, and its pathogenesis, diagnosis, treatment, and prognosis are unique. In-depth study of such cases, combined with the review of relevant literature, is helpful to further reveal the pathogenesis of leukemia, provide more evidence for clinical diagnosis and treatment, so as to improve the level of diagnosis and treatment and improve the prognosis of patients.
DOI: 10.7754/Clin.Lab.2025.250407
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