摘要
目的 探讨毛细胞白血病的一些少见的临床表现。方法 报道同济医院2021年10月收治的1例以高热、皮疹和滑膜炎为首发表现的毛细胞白血病患者,分析其临床表现、实验室检查、诊治经过,并对相关文献进行复习。结果 患者为63岁男性,主要表现高热、皮疹、滑膜炎,血常规提示三系减少,骨髓血免疫分型:约7.1%细胞为单克隆异常成熟B淋巴细胞,表达CD103、CD25、CD11c,不表达CD5、CD10、Ki-67。二代测序提示BRAFV600E错义突变。明确诊断为毛细胞白血病,行克拉屈滨单药化疗和利妥昔单抗强化治疗后,疾病控制。(体温恢复正常,皮疹完全消退,膝关节滑膜炎好转,骨髓细胞学、液体活检转阴)。结论 毛细胞白血病典型的临床表现大多为脾大、全血细胞减少,而以高热、皮疹、滑膜炎为首发表现的相对少见。流式免疫分型和遗传学检测对确诊不典型病例有重要价值。
Objective To investigate some rare clinical manifestations of hairy cell leukemia.Methods A case of hairy cell leukemia with Hyperthermia,rash and synovitis as the first manifestation was reported in Tongji Hospital in October 2021.The clinical manifestations,laboratory tests,diagnosis and treatment were analyzed,and the relevant literature was reviewed.Results The patient was a 63 year old male,who mainly presented with high fever,rash,synovitis,blood routine showed three lineages reduction,bone marrow blood immunotyping:About 7.1%cells were monoclonal abnormal mature B lymphocytes,which expressed CD103,CD25,CD11c,but not CD5,CD10,Ki-67.Second generation sequencing suggested a BRAF V600E missense mutation.The patient was definitely diagnosed as hairy cell leukemia,and the disease was controlled after Mavenclad/cladribine single agent chemotherapy and rituximab intensive treatment.(body temperature returned to normal,rash completely resolved,knee synovitis improved,bone marrow cytology and liquid biopsy turned negative).Conclusion The typical clinical manifestations of hairy cell leukemia are mostly splenomegaly and pancytopenia,while fever,rash and synovitis are relatively rare.Flow immunophenotyping and genetic testing are of great value in the diagnosis of atypical cases.
作者
肖伟
陈斌
韩思靖
孙伟民
周密
毛泽楷
黄亮
Xiao Wei;Chen Bin;Han Si-jing;Sun Wei-min;Zhou Mi;Mao Ze-kai;Huang Liang(Hubei University of Traditional Chinese Medicine,WuHan 430000,Hubei Province,China;Tongji Hospital,Tongji Medical College,Huazhong University of science and technology,WuHan 430030,Hubei Province,China)
出处
《罕少疾病杂志》
2023年第6期1-2,共2页
Journal of Rare and Uncommon Diseases
关键词
毛细胞白血病
高热
皮疹
滑膜炎
鉴别诊断
Hairy Cell Leukemia
Hyperthermia
Rash
Synovitis
Differential Diagnosis
