本研究的目标是改善对伴有反应性肥大型肥大细胞增生的复杂核型急性嗜碱性白血病的理解。回顾性分析了一例临床和实验室特征与伴有反应性肥大型肥大细胞增生的复杂核型急性嗜碱性白血病的病例，并对患有急性嗜碱性白血病的患者相关文献进行了综述。实验室检测结果如下：丙氨酸转氨酶225 U/L，天门冬氨酸转氨酶129 U/L，总蛋白3.0 g/L，白蛋白25.0 g/L，球蛋白17.8 g/L，总胆红素183.9 μmol/L，间接胆红素65.6 μmol/L，D-二聚体13.02 mg/L，凝血酶原时间19.30秒，白细胞37.30 x 109/L，红细胞2.06 x 1012/L，血红蛋白71 g/L，血小板13 x 109/L，嗜碱性颗粒细胞5.01 x 109/L。骨髓涂片显示：大量异常原始细胞分散分布。这些细胞的特征如下：细胞体积不一，大部分为圆形或类圆形，细胞质量中等，胞质染色为灰蓝色。胞质出现突起，部分胞质和/或核上可见嗜碱性颗粒。细胞核大部分为圆形或几乎圆形，有扭曲和褶皱。染色质细节丰富，核仁数量各异，有些核仁染色深。细胞显示双重和多个核，分散分布，偶尔形成小团块。骨髓活检结果：急性髓系白血病，不排除嗜碱性白血病。骨髓分子生物学检测结果：包括RARA和BCR-ABL融合基因在内的29个髓系白血病基因均为阴性。流式细胞术结果显示异常细胞人口占核细胞的21.98%。表型为CD33++、CD38+、CD13+、CD123+、CD7+、CD36+、CD203c+、CD81+，部分CD34+、部分HLA-DR+、CD4弱阳性、CD117弱阳性、TDT阴性、cCD3阴性、cCD79a阴性、MPO阴性、CD11c阴性、CD25阴性、CD2阴性。另外，肥大细胞占核细胞的1.15%，表达CD203c，但不表达CD25和CD2。核型分析结果为46, XY, -7, 伪二倍体(9; 19) (p24; p13.3), 加(15) (p12), 加(21) (q22), +r, +1 - 2 mar [cp20]。嗜碱性白血病（ABL）是一种罕见的恶性血液肿瘤。骨髓涂片、活检、流式细胞术和细胞遗传学检测在复杂核型急性嗜碱性白血病伴有反应性肥大型肥大细胞增生的诊断和鉴别中起重要作用。

The goal of the study is to improve the understanding of complex karyotype acute basophilic leukemia with reactive mast cell hyperplasia.A case of clinical and laboratory characteristics of complex karyotype acute basophilic leukemia with reactive mast cell hyperplasia and review of related literature of patient with acute basophilic leukemia were retrospectively analyzed.Laboratory tests: alanine aminotransferase 225 U/L, aspartate aminotransferase 129 U/L, total protein 3.0 g/L, albumin 25.0 g/L, globulin 17.8 g/L, total bilirubin 183.9 μmol/L, indirect bilirubin 65.6 μmol/L, D-dimer 13.02 mg/L, prothrombin time 19.30 S, white blood cell 37.30 x 109/L, red blood cells 2.06 x 1012/L, hemoglobin 71 g/L, platelets 13 x 109/L, and basophilic granulocyte cells 5.01 x 109/L. Bone marrow smear: a large number of abnormal primitive cells were scattered and distributed. The characteristics of these cells were as follows: the cell body size was different, most of them were round or quasi-round, the cytoplasm volume was medium, and the cytoplasm was stained gray blue. The cytoplasmic processes were visible, and basophilic particles were visible in part of the cytoplasm and/or on the nucleus. The nuclei were mostly round or almost round, with distortion and folding. The chromatin was detailed, the nucleoli varied in number, and some nucleoli were deeply stained. The cells showed double and multiple nuclei, scattered and occasionally small clumps. Bone marrow biopsy: acute myeloid leukemia, not excluding basophilic leukemia. Bone marrow molecular biology: All 29 myeloid leukemia genes, including RARA and BCR-ABL fusion genes, were negative. Flow cytometry results showed abnormal cell population which accounted for 21.98% of nuclear cells. The phenotypes are CD33++, CD38+, CD13+, CD123+, CD7+, CD36+, CD203c+, CD81+, part of CD34+, part of HLA-DR+, CD4 weak+, weak CD117+, the TDT-, cCD3-, cCD79a-, MPO-, CD11c-, CD25-, CD2-. In addition, mast cells accounted for 1.15% of nuclear cells, expressing CD203c, but not CD25 and CD2. Karyotype analysis results were 46, XY, -7, psudic (9; 19) (p24; p13.3), add (15) (p12), add (21) (q22), +r, +1 - 2 mar [cp20].Acute basophilic leukemia (ABL) is a rare malignant hematologic tumor. Bone marrow smears, biopsies, flow cytometry, and cytogenetic tests play an important role in the diagnosis and differentiation of complex karyotype acute basophilic leukemia with reactive mast cell hyperplasia.