背景:目的是提高对AML1/ETO阳性急性髓系白血病患儿预后不良的认识。
方法:报道一例AML1/ETO阳性的急性髓系白血病患儿,预后不良。骨髓细胞形态学,多参数流式细胞术,通过查阅相关文献对细胞遗传学或分子遗传学检测结果进行分析。
结果:患者是一名年轻女孩,临床表现为呼吸道感染。骨髓涂片显示髓系原始细胞占13%,一些粒细胞细胞体扩大了,可见的病理现象,如细胞质液泡,双核颗粒,环杆,和假pelgerhuet畸形可见(图1)。流式细胞术:异常髓系原始细胞(12.33%),CD34和HLA-DR的表达,CD38、CD56、部分表达CD117,弱表达CD13、CD33、MPO,CD19,cCD79a(图2)。染色体核型分析显示,外周血染色体核型为46,XX,t(8;21)(q22;q22)。AML1/ETO融合基因定量检测结果为42.15%,以及NRAS的突变,采用第二代测序法检测ASXL2、TP53和TET2基因。结合以上结果,诊断为AML1/ETO阳性的急性髓系白血病。
结论:细胞遗传学或分子遗传学是鉴定AML1/ETO融合基因阳性的金标准。AML1/ETO阳性AML细胞的形态异质性较大,在一定程度上限制了骨髓细胞的形态学诊断,综合诊断效率明显优于形态学。白血病融合基因AML1/ETO是指位于人染色体21q22上的AML1基因与ETO基因8q22融合,是急性髓系白血病(AML)中最常见的融合基因。本文报告我院收治的1例AML1/ETO阳性急性髓系白血病患儿预后不良,并复习相关文献。
BACKGROUND: The aim was to improve the understanding of an AML1/ETO positive child with acute myeloid leukemia with poor prognosis.
METHODS: A
case of AML1/ETO positive child with acute myeloid leukemia with poor prognosis was reported. The bone marrow cell morphology, multi-parameter flow cytometry, cytogenetic or molecular genetic test results were analyzed by reviewing relevant literature.
RESULTS: The patient was a young girl with clinical manifestations of respiratory tract infection. Bone marrow smears showed that myeloid primordial cells accounted for 13%, some granulocyte cell bodies are enlarged, visible pathological phenomena such as cytoplasmic vacuoles, binuclear grains, ring rods, and pseudo pelgerhuet malformations were seen (Figure 1). Flow cytometry: abnormal myeloid original cells (12.33%), expression of CD34 and HLA - DR, CD38, CD56, part of the expression of CD117, weak expression of CD13, CD33, MPO, CD19, cCD79a (Figure 2). Chromosome karyotype analysis showed that the chromosome karyotype of peripheral blood was 46, XX, t(8;21)(q22;q22). The quantitative detection result of AML1/ETO fusion gene was 42.15%, and mutations of NRAS, ASXL2, TP53 and TET2 genes were detected by second-generation sequencing. Combined with the above results, AML1/ETO positive with acute myeloid leukemia was diagnosed.
CONCLUSIONS: Cytogenetics or molecular genetics is the gold standard for identification of positive AML1/ETO fusion gene. Morphological heterogeneity of AML1/ETO positive AML cells is large, which limits the morphological diagnosis of bone marrow cells to a certain extent, and the comprehensive diagnostic efficiency is significantly better than that of morphology. Leukemia fusion gene AML1/ETO refers to the fusion of AML1 gene located on human chromosome 21q22 and ETO gene 8q22, which is the most common fusion gene in acute myeloid leukemia (AML). This paper
reports a
case of an AML1/ETO positive child with acute myeloid leukemia with poor prognosis admitted to our hospital and reviews relevant literature.