融合基因STAT3::RARA阳性PML::RARA阴性急性早幼粒细胞白血病1例并文献复习  

PML::RARA-negative acute promyelocytic leukemia with STAT3::RARA fusion gene positive:report of 1 case and review of literature

作　　者：宁婧[1] 杨瑞[1] 王海楠 崔丽娟[1] Ning Jing;Yang Rui;Wang Hainan;Cui Lijuan

机构地区：[1]宁夏医科大学总医院血液内科,银川750004

出　　处：《白血病．淋巴瘤》2024年第9期543-547,共5页Journal of Leukemia & Lymphoma

摘　　要：目的提高对STAT3::RARA融合基因阳性急性早幼粒细胞白血病(APL)的认识。方法回顾性分析2020年7月宁夏医科大学总医院收治的1例STAT3::RARA融合基因阳性APL患者的一般资料、基因检测结果及诊治经过,并进行文献复习。结果患者为70岁男性,因痔疮出血伴反复口腔溃疡2个月入院。体格检查示贫血貌,余无明显阳性体征。入院血常规:白细胞计数4.36×10^(9)/L,中性粒细胞比例56.5%,淋巴细胞比例22.7%,血红蛋白67 g/L,血小板计数37.0×10^(9)/L。髂骨穿刺骨髓涂片:骨髓增生极度活跃,粒系异常增生,以病态早幼粒细胞为主。实时定量聚合酶链反应法定性检测未检出PML::RARA L型(bcr1型)、PML::RARA V型(bcr2型)、PML::RARA S型(bcr3型)。PML::RARA融合基因探针荧光原位杂交检测示RARA基因位点部分缺失阳性,PML::RARA基因位点融合阴性。血液肿瘤全景式基因变异检测示STAT3::RARA融合基因阳性,未检测到与血液肿瘤相关的基因变异。诊断为不典型APL(STAT3::RARA融合基因阳性)。经全反式维甲酸和三氧化二砷联合治疗无效,拒绝联合化疗,接受对症支持治疗,乏力症状改善后出院。结论STAT::RARA融合基因阳性APL临床罕见;与经典型APL相比,该类型APL缺乏有效治疗措施,其对全反式维甲酸和三氧化二砷治疗不敏感可能与该融合基因有关。ObjectiveTo improve understanding of acute promyelocytic leukemia(APL)with STAT3::RARA fusion gene positive.MethodsThe clinical data,gene detection,diagnosis and treatment of 1 APL patient with STAT3::RARA fusion gene positive admitted to General Hospital of Ningxia Medical University in July 2020 were retrospectively analyzed,and the related literatures were reviewed.ResultsThe patient was a 70-year-old elderly male who was admitted to the hospital due to bleeding hemorrhoids accompanied with recurrent oral ulcers for 2 months.Physical examination showed anemic appearance and no obvious positive signs were detected.Admission blood routine examination:white blood cell count was 4.36×10^(9)/L,neutrophil ratio was 56.5%,lymphocyte ratio was 22.7%,hemoglobin was 67 g/L,and platelet count was 37.0×10^(9)/L.Bone marrow smear of ilium puncture:myeloproliferative hyperplasia was hyperactive,granular dysplasia was abnormal and pathological promyelocytes could be predominantly seen.The results of real-time quantitative polymerase chain reaction showed that PML::RARA L(bcr1),PML::RARA V(bcr2)and PML::RARA S(bcr3)were not detected.PML::RARA fusion gene probe fluorescence in situ hybridization showed positive for partial deletion of RARA gene locus and negative for fusion of PML::RARA gene locus.Blood tumor panoramic gene variation test showed STAT3::RARA fusion gene was positive,and no gene variation associated with blood tumors was detected.Finally,the patient was diagnosed as atypical APL(STAT::RARA fusion gene positive).The patient did not respond to the combination treatment of all-trans retinoic acid and arsenic trioxide.And then he received symptomatic supportive treatment rather than the combined chemotherapy,and was discharged after remission of fatigue symptoms.ConclusionsSTAT::RARA fusion gene positive APL is clinically rare and lacks effective treatment compared with classical APL.Its insensitivity to all-trans retinoic acid and arsenic trioxide may be related to this fusion gene.

关 键 词：白血病 早幼粒细胞 急性 癌基因融合 STAT3转录因子 受体 维甲酸 PML蛋白 

分 类 号：R733.71[医药卫生—肿瘤]