肥大细胞白血病6例并文献复习  

Report of six cases with mast cell leukemia and a literature review

作　　者：朱凤[1] 于媛[2] 陈春燕[2] 段文冰 江倩[3] 闫睿 孙谕[5] 韩艳秋[6] 张静[6] 王欢 张秋蓉[8] 陈苏宁[1] 颜婉惠 蔡梦洁 张智博 尹佳[1] 王谦[1] Zhu Feng;Yu Yuan;Chen Chunyan;Duan Wenbing;Jiang Qian;Yan Rui;Sun Yu;Han Yanqiu;Zhang Jing;Wang Huan;Zhang Qiurong;Chen Suning;Yan Wanhui;Cai Mengjie;Zhang Zhibo;Yin Jia;Wang Qian(Jiangsu Institute of Hematology,National Clinical Research Center for Hematologic Diseases,the First Affiliated Hospital of Soochow University,Suzhou 215006,China;Department of Hematology,Qilu Hospital of Shandong University,Jinan 250012,China;Peking University People′s Hospital,Peking University Institute of Hematology,Beijing 100044,China;Harbin Institute of Hematology and Oncology,Harbin First Hospital,Harbin 150010,China;Department of Hematology,the Second Affiliated Hospital of Soochow University,Suzhou 215004,China;Department of Hematology,the Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010050,China;Department of Hematology,the First People′s Hospital of Kunshan,Suzhou 215316,China;Department of Hematology,the First People′s Hospital of Zhangjiagang,Suzhou 215699,China)

机构地区：[1]苏州大学附属第一医院、江苏省血液研究所、国家血液系统疾病临床医学研究中心,苏州215006 [2]山东大学齐鲁医院血液科,济南250012 [3]北京大学人民医院、北京大学血液病研究所,北京100044 [4]哈尔滨市第一医院血液病肿瘤研究所,哈尔滨150010 [5]苏州大学附属第二医院血液科,苏州215004 [6]内蒙古医科大学附属医院血液内科,呼和浩特010050 [7]昆山市第一人民医院血液科,苏州215316 [8]张家港市第一人民医院血液科,苏州215699

出　　处：《中华内科杂志》2024年第10期996-1000,共5页Chinese Journal of Internal Medicine

基　　金：江苏省自然科学基金(BK20231195)。

摘　　要：回顾性分析2021年10月至2023年2月苏州大学附属第一医院(中国肥大细胞增多症协作网络)收治或会诊的6例肥大细胞白血病(MCL)患者的临床及实验室检查资料。6例患者中,男女比为1∶1,中位年龄54岁(范围29~73岁)。6例均为急性MCL。临床表现:低白蛋白血症4例,乏力3例,发热、腹部不适、溶骨性病变各2例,头晕、皮肤潮红、体重减轻各1例。6例均伴脾肿大,3例伴淋巴结肿大。实验室检查:6例均强表达CD117,5例表达CD30及CD25,4例表达CD2。染色体核型分析提示4例为正常核型,2例为异常核型。6例中4例检测到基因突变。中位血清类胰蛋白酶水平24.9μg/L(范围20.1~171.9μg/L)。治疗:2例予包含维奈克拉和阿扎胞苷的方案诱导化疗(其中1例联合阿伐替尼获得部分缓解,1例联合达沙替尼未缓解),1例予克拉屈滨诱导化疗后未缓解,1例予伊马替尼治疗后未缓解,1例予干扰素联合糖皮质激素治疗后失访,1例放弃治疗。随访时间1.1~21.7个月,3例死亡,2例存活。MCL患者临床表现多样,总体预后差,亟需提高临床对此类罕见病例的认知和诊疗水平。From October 2021 to February 2023,we retrospectively analyzed the clinical and laboratory data of six patients(three male and three female,median age:54 years,age range:29-73 years)with mast cell leukemia(MCL)diagnosed in the First Affiliated Hospital of Soochow University(The Mastocytosis Collaborative Network of China).All patients had acute MCL,with at least one C-finding present.The main clinical presentations were hypoalbuminemia(n=4),fatigue(n=3),fever(n=2),abdominal discomfort(n=2),osteolytic lesions(n=2),dizziness(n=1),skin flushing(n=1),and weight loss(n=1).Splenomegaly and lymphadenopathy were noted in six and three patients,respectively.Six patients were strongly positive for CD117,five were positive for CD30 and CD25,and four were positive for CD2.Four patients had a normal karyotype and two patients had an abnormal karyotype.Gene mutations were detected in 4/6 cases.The median serum tryptase level was 24.9(range:20.1-171.9)μg/L.Two patients were treated with venetoclax and azacitidine for induction(one patient achieved partial remission by combination with afatinib,while there was no remission after combination with dasatinib in the other patient).Two patients did not achieve complete remission despite treatment with cladribine and imatinib,respectively.One patient treated with interferon combined with glucocorticoids was lost to follow-up,and one patient abandoned treatment.The follow-up time ranged from 1.1 to 21.7 months.Three patients died and two survived.Overall,MCL is a rare subtype of systemic mastocytosis with heterogeneous clinical course,and these patients have poor outcome.A better understanding of the clinical characteristics,treatment,and prognosis of MCL is urgently needed.

关 键 词：白血病 肥大细胞 预后 系统性肥大细胞增多症 靶向治疗 

分 类 号：R733.7[医药卫生—肿瘤]