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Complex Karyotype Acute Basophilic Leukemia with Reactive Mast Cell Hyperplasia by Yiping Wu, Xiaofang Zhang, Hongxia Guo, Jia Guo, Ruimin Li

Background: The goal of the study is to improve the understanding of complex karyotype acute basophilic leukemia with reactive mast cell hyperplasia.
Methods: 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.
Results: 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].
Conclusions: 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.

DOI: 10.7754/Clin.Lab.2023.230337