肥大细胞白血病临床和实验室检查回顾分析

Retrospective analysis of clinical and laboratory examinations' characteristics of mast cell leukemia

目的回顾分析1例肥大细胞白血病(MCL)患者的临床及实验室检查特点,以提高临床及实验室技术人员对该病的认知。方法对MCL患者行血细胞分析、细胞形态学分析、流式细胞术免疫表型分析、染色体核型分析及白血病突变基因检查,结合相关文献分析该病临床及实验室检查特点。结果患者以反复腹泻、乏力、皮疹、消瘦、脾大为主要临床表现,外周血及骨髓中肥大细胞(MC)分别占42%和79%。流式细胞术免疫表型为CD45+、CD117++、CD33++、CD13+、CD11b-、CD2++、CD9++、CD123-、CD25部分+、CD34-、CD38-、HLADR-、CD64-、CD15-。细胞遗传学检查未见明显异常。分子生物学检查发现KIT基因F522C突变,最终确诊为MCL。结论 MCL是一种罕见的血液系统恶性肿瘤,具有独特的临床和实验室表现,细胞形态上需注意与相似细胞的鉴别,同时应重点完善分子生物学检查以指导治疗。

Objective To analyze the clinical and laboratory examinations'characteristics of a case of mast cell leukemia(MCL)retrospectively,and to understand the clinical and laboratory examinations'characteristics of MCL.Methods Through the clinical and pathologic findings,including complete blood count,bone marrow aspiration,flow cytometry,genetic analysis and DNA sequencing in a case of MCL,the clinical and laboratory examinations'characteristics were analyzed combined with literatures.Results Physical examination revealed recurrent diarrhea,asthenia,severe weight loss,urticaria and marked splenomegaly.In peripheral blood and bone marrow,mast cells(MC)accounted for 42% and 79%,respectively.The immunophenotypes of MC were CD45+,CD117++,CD33++,CD13+,CD11b-,CD2++,CD9++,CD123-,partial CD25+,CD34-,CD38-,HLADR-,CD64-and CD15-.No obvious abnormality was found in genetic analysis.F522C was detected by mutational analysis of KIT gene.Eventually,the case was diagnosed as MCL.Conclusions MCL is a rare hematological malignancy with unique clinical and laboratory examinations'characteristics.It should pay attention to the cell morphology to avoid the misidentification of similar cells,and the molecular biological examination should be emphasized to guide the treatment.