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24.9 μg/L（范围20.1~171.9 μg/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。

abstractsFrom 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.