急性淋巴细胞白血病误诊为幼年特发性关节炎并文献复习

目的 探讨以骨关节疼痛为首发症状的儿童急性淋巴细胞白血病(ALL)的早期诊断方法,分析误诊原因并提出防范措施.方法 选择2017年1月2日,于成都市妇女儿童中心医院肾脏内科住院治疗的1例以骨关节疼痛为首发症状的ALL患儿为研究对象.回顾性分析其临床特征及诊治经过,并且对相关文献进行复习.结果 本例患儿于2017年1月4日,骨髓细胞形态学结果显示,有核细胞增生极度活跃,以原始淋巴细胞增生为主,占有核细胞的87％,正常粒细胞、红细胞、巨核细胞三系增生均受抑制.2017年1月10日,流式细胞术结果显示,原始细胞分布区域可见异常细胞群体,与成熟淋巴细胞分界不清,约占有核细胞的98％.免疫表型结果显示,CD2、CD3、CD4、CD5、CD7、CD38、CD34、CD58、cCD3、TdT表达呈阳性.2017年2月1日,骨髓染色体核型检测结果为46,XY(20),提示为正常男性核型.白血病融合基因筛查结果显示,TEL/AML1融合基因呈阳性.患儿于201 7年2月1日,确诊为中危型急性T淋巴细胞白血病(T-ALL),法国、美国、英国协作组(FAB)分型为ALL-L2型.根据中国儿童白血病协作组(CCLG)-ALL2008方案对患儿进行1个月的化疗后,患儿骨关节疼痛消失,红细胞沉降率(ESR)由108 mL/h下降为22 mL/h,血清尿酸浓度由3 873 μmol/L下降为215.8 μmol/L.2017年2月15日,骨髓细胞形态学检测结果提示,原始细胞及幼稚细胞所占百分比＜5％,红细胞系及巨核细胞系均正常,骨髓呈缓解象.结论 儿童ALL早期可能以骨关节疼痛为首发症状,若同时伴血清炎症指标升高时,易被误诊为幼年特发性关节炎(JIA).临床上对于以骨关节疼痛为首发症状者,应仔细判断,必要时行骨髓检查,以避免误诊.

Acute lymphoblastic leukemia misdiagnosed as juvenile idiopathic arthritis: case report and literatures review

Objective To explore the early diagnosis of acute lymphoblastic leukemia (ALL) in children with osteoarthritis as the first symptom,and analyze the causes of misdiagnosis,in order to avoid misdiagnosis.Methods On 2 January 2017,one child with ALL suffering from osteoarthritis as the initial symptom,who was hospitalized in Department of Nephrology,Chengdu Women's and Children's Central Hospital,was selected as the object of this study.The clinical features,diagnosis and treatment of this child were analyzed by retrospective analysis retrospectively,and the related literatures were reviewed.Results On 4 January 2017,the results of bone marrow cell morphology showed that the proliferation of nucleated cell was active,especially lymphoblasts which were occupied 87％ of nuclear cells.Myeloid,erythroid series and megakaryocytes were all inhibited.On 10 January 2017,the results of flow cytometry showed that there were abnormal cells in the region of the primitive cells,which was occupied 98％ of nuclear cells.The results of immunophenotype showed that the expression of CD2,CD3,CD4,CD5,CD7,CD38,CD34,CD58,cCD3,and TdT were positive.On 1 February 2017,the results of chromosome karyotype of bone marrow was 46,XY (20),which suggested a normal male karyotype.Then,the results of leukemia fusion gene screening showed that the TEL/AML1 fusion gene was positive.Finally,on 1 February 2017,this child was diagnosed as a moderate risk type of acute T-lymphoblastic leukemia (T-ALL),and France,the United States and the United Kingdom cooperative group (FAB) type was ALLL2.After one month chemotherapy with Chinese Children's Leukemia Group-ALL 2008(CCLG-ALL2008)protocol,the osteoarthritis disappeared,erythrocyte sedimentation rate (ESR) decreased from 108 mL/h to 22 mL/h,and the serum uric acid concentration decreased from 3 873 μmol/L to 215.8 μmol/L.On 15 February 2017,the results of bone marrow cell morphology showed that the percentage of the original and immature cells was less than 5 ％,the erythrocyte series and megakaryocytes were normal,and the bone marrow showed remission.Conclusions When ALL manifested osteoarthritis as the first symptom,accompanied with elevated serum inflammation indicators,ALL in children may be easily misdiagnosed as juvenile idiopathic arthritis (JIA).Carefully and bone marrow aspiration examination could avoid misdiagnosis.