CBFβ、WT1、KIT、NRAS基因阳性急性髓系白血病1例并文献复习  

One case of acute myeloid leukemia with positive CBFβIV,WT1,KIT,and NRAS genes and literature review

作　　者：路一凡 吴涛 张安安 刘文慧 刘晓琴 Lu Yifan;Wu Tao;Zhang An'an;Liu Wenhui;Liu Xiaoqin(Department of Hematology,The 940th Hospital of the PLA Joint Logistics Support Force,Lanzhou 730050,Gansu Province,China)

机构地区：[1]解放军联勤保障部队第九四〇医院血液科,兰州730050

出　　处：《中国基层医药》2025年第3期321-325,共5页Chinese Journal of Primary Medicine and Pharmacy

基　　金：甘肃省创新基地和人才计划(21JR7RA015);甘肃省重点研发计划(22YF7FA106);联勤保障部队第九四〇医院血液病医学研究中心项目(2021yxky078)。

摘　　要：目的探讨多基因阳性的急性髓细胞白血病(AML)患者的临床特征、诊疗方法及预后情况。方法对解放军联勤保障部队第九四〇医院2021年10月10日收治的1例35岁男性AML患者的临床资料结合文献进行分析。结果该患者因“流涕1个月,咽痛、颈部淋巴结肿大3 d”入院,根据实验室检查结果,患者被诊断为急性粒-单核细胞白血病伴嗜酸细胞增多伴16号染色体长臂的核心结合因子β亚基基因与短臂的平滑肌肌球蛋白重链11基因(CBFβ-MYH11)、肾母细胞瘤蛋白1(WT1)、干细胞因子受体基因(KIT)、成神经细胞瘤RAS病毒(v-ras)癌基因同源物(NRAS)基因突变。患者多次接受伊达比星联合阿糖胞苷(Ara-C)方案化疗,多次复查达到完全缓解骨髓象(CR),微小残留病灶检测阴性,并且耐受性良好。于第4次给予Ara-C化疗后出现Ⅳ度骨髓抑制,给予升高白细胞、升高血小板、输注成分血等治疗,病情好转。后续进行Ara-C强化治疗,病情平稳。结论CBFβ-MYH11融合基因阳性的AML预后较好,其伴随基因KIT突变及初诊时外周血原始白细胞高比例可能影响此类AML的预后,并且WT1作为AML预后的独立影响因素。RAS基因突变对总体/无病生存期、CR或复发率无影响。Objective To investigate the clinical features,diagnostic and therapeutic methods,and prognosis of patients with acute myeloid leukemia(AML)who are positive for multiple genes.Methods The clinical data of a 35-year-old male AML patient,who was admitted to The 940 th Hospital of the PLA Joint Logistics Support Force on October 10,2021,were analyzed based on related literature.Results The patient was admitted due to rhinorrhea for 1 month and sore throat with cervical lymph node enlargement for 3 days.Based on laboratory test results,the patient was diagnosed with acute myelomonocytic leukemia with eosinophilia and mutations in the core-binding factorβsubunit gene(CBFβ-MYH11),located on the long arm of chromosome 16,as well as mutations in the Wilms'tumor 1 gene(WT1),the stem cell factor receptor gene(KIT),and the neuroblastoma RAS viral oncogene homolog(NRAS).The patient was treated multiple times with a regimen of idarubicin combined with cytarabine(Ara-C),achieving complete remission with negative minimal residual disease detection.The patient tolerated the treatment well.However,after the fourth cycle of chemotherapy with Ara-C,the patient developed gradeⅣbone marrow suppression.Following treatment to increase white blood cells and platelets,as well as blood component transfusions,the patient's condition improved.Subsequently,after receiving intensified Ara-C treatment,the patient's condition stabilized.Conclusions AML with a positive CBFβ-MYH11 fusion gene has a favorable prognosis.However,the presence of a concomitant KIT mutation and a high proportion of primitive white blood cells in the peripheral blood at initial diagnosis may affect the prognosis of this type of AML.Additionally,WT1 is an independent prognostic factor for AML.RAS gene mutations do not impact overall survival,disease-free survival,complete remission,or relapse rates.

关 键 词：白血病 髓样 急性 基因融合 癌基因蛋白质类 融合 造血干细胞 免疫表型分型 转录因子 抗肿瘤联合化疗方案 

分 类 号：R73[医药卫生—肿瘤]