慢性粒细胞白血病合并意义未明的单克隆免疫球蛋白血症1例并文献复习

Chronic myeloid leukemia and monoclonal gammopathy of unknown significance:a case report and literature review

目的研究慢性粒细胞白血病(CML)合并意义未明的单克隆免疫球蛋白血症(MGUS),提高对此类疾病的认识。方法选取徐州医科大学附属医院血液科收治的1例CML伴MGUS患者,对其临床资料进行分析,并复习国内外相关文献。结果患者2019年7月入院后,血清固定电泳+蛋白电泳显示,单克隆免疫球蛋白(M蛋白)阳性,免疫球蛋白(Ig A)弱阳性;骨髓形态学检测显示3.5%异常形态浆细胞;流式细胞术检测到异常单克隆浆细胞群;荧光原位杂交(FISH)检测到免疫球蛋白重链(Ig H)重排(62/300);染色体核型分析为46,XY,t(9;22)(q34;q11)[10]46,XY[1]。患者诊断为第一,MGUS;第二,CML?予抗感染、补充叶酸、止泻等对症治疗后,患者症状缓解,不愿行融合基因检查要求出院。2020年3月患者再次入院,经检测融合基因BCR/ABL1(P230)阳性,定量40.98%;FISH检测BCR/ABL1(270/300);腹部彩超显示脾脏大小正常。患者诊断为:脾脏不大BCR/ABL1(P230)阳性的CML合并MGUS,予以抗感染、补充铁剂、护胃等对症支持治疗,以甲磺酸伊马替尼治疗CML,目前患者病情稳定。结论CML合并MGUS较为少见,容易漏诊误诊。CML和MGUS的治疗方法及共存机制需要进一步明确。

Objective To explore the characteristics of chronic myelogenous leukemia(CML)combined with monoclonal immunoglobulinemia of unknown significance(MGUS).Methods A CML patient with MGUS was reported,who was admitted to the Affiliated Hospital of Xuzhou Medical University.His clinical data were collected and relevant literature was reviewed.Results The patient was first admitted to the hospital on July 2019.According to serum fixed electrophoresis and protein electrophoresis,his monoclonal immunoglobulin(M protein)was positive and immunoglobulin(Ig A)was weakly positive.Bone marrow morphology examination showed abnormal morphology in 3.5%of plasma cells.Abnormal monoclonal plasma cell population was detected by flow cytometry.Rearrangement of immunoglobulin heavy chain(Ig H)(62/300)was found by fluorescence in situ hybridization(FISH).Chromosome karyotype analysis showed46,XY,t(9;22)(q34;q11)[10]46,XY[1].The patient was diagnosed with MGUS,while CML was not determined.After anti-infection,folic acid supplementation,antidiarrheal and other symptomatic treatments,his symptoms were relieved.He refused fusion gene examination and was discharged.On March 2020,the patient was admitted to the hospital again and the fusion gene analysis found 40.98%positive BCR/ABL1(P230).FISH assay showed BCR/ABL1(270/300),while abdominal color Doppler ultrasound revealed normal spleen size.The patient was diagnosed with BCR/ABL1(P230)positive CML without large spleen complicated with MGUS.This patient received symptomatic and supportive treatment such as anti-infection,iron supplementation,and stomach protection,and treated CML with imatinib mesylate.The patient is currently in a stable condition.Conclusions CML combined with MGUS is rarely reported and easily misdiagnosed.Further studies are required for determining the treatment strategies and mechanisms of CML and MGUS.