相继发生急性T淋巴细胞白血病、朗格汉斯细胞组织细胞增生症和朗格汉斯细胞肉瘤一例  

A Patient with Sequential Diseases of Langerhans Cell Sarcoma,Langerhans Cell Histiocytosis,and Acute Lymphoblastic Leukemia

作　　者：田宇 王冬[1] 魏昂 杨颖[1] 张利平 马宏浩[1] 王婵娟 崔蕾[1] 李志刚[1] 张蕊[1] 王天有[1] TIAN Yu;WANG Dong;WEI Ang;YANG Ying;ZHANG Liping;MA Honghao;WANG Chanjuan;CUI Lei;LI Zhigang;ZHANG Rui;WANG Tianyou(Hematology Center,National Center for Children's Health,Beijing Children's Hospital,Capital Medical University,Beijing 100045,China;Department of Child Health Care,Affiliated Children's Hospital of Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]国家儿童医学中心、首都医科大学附属北京儿童医院血液病中心,北京100045 [2]首都儿科研究所附属儿童医院保健科,北京100020

出　　处：《罕见病研究》2022年第3期311-317,共7页Journal of Rare Diseases

基　　金：国家自然科学基金项目(82070202);首都卫生发展科研专项项目(首发2020⁃2⁃2093,首发2022⁃2⁃1141);北京市医院管理局儿科学科协同发展中心专项项目(XTZD20180201);国家科技重大专项项目(2017ZX09304029)。

摘　　要：朗格汉斯细胞组织细胞增生症(LCH)和朗格汉斯细胞肉瘤(LCS)的特征是朗格汉斯型细胞的克隆增殖,可能与急性T淋巴细胞白血病(T⁃ALL)和其他淋巴肿瘤同时或相继发生。一例15岁女性患者被诊断为T⁃ALL,在维持化疗期间出现多系统LCH,化疗好转后又出现病情进展,且对二线化疗耐药。由于患者存在KRAS基因的c.G35A(p.G12D)突变,加用曲美替尼靶向治疗,效果显著,治疗一周达部分缓解。治疗3个月后再次出现颈部淋巴结肿大,病理诊断为LCS,7 d内患者病情急速进展,最终死亡。上述三种疾病进展及演变可能与转分化、克隆演化及化疗药物等因素有关。靶向药物在短期内可能存在一定疗效。Langerhans cell histiocytosis(LCH)and Langerhans cell sarcoma(LCS)are characterized by clone proliferation of Langerhans⁃type cells,which may occur concurrently or sequentially with T⁃cell acute lymphoblastic leukemia(T⁃ALL)and other Lymphoid neoplasms.A 15⁃year old female patient diagnosed with T⁃ALL developed LCH involving multiple systems during maintenance chemotherapy of T⁃AL.After treated with chemotherapy with improved result,the patient showed progression of the illness and refractory to the secondline treatment.We found c.G35A(p.G12D)mutation in the KRAS gene and used the targeted drug Trametinib for treatment.The treatment proved effective,leading to partial remission within a week.Three months after Trametinib treatment,the patient developed new lymphadenopathy.Biopsy revealed the existence of LCS.The disease progressed quickly,and the patient died 7 days after diagnosis of LCS.The case of patients with T⁃ALL then developing LCH and LCS sequentially is extraordinarily rare.The causes of the case is unclear and may be related to cell transdifferentiation,clonal evolution,and chemotherapy.Targeted drugs can contain this disease for a short time.

关 键 词：朗格汉斯细胞组织细胞增生症 朗格汉斯细胞肉瘤 急性T淋巴细胞白血病 克隆演变 靶向治疗 

分 类 号：R725.9[医药卫生—儿科] R597[医药卫生—临床医学]