摘要
目的分析NUP98-HOX融合基因阳性急性髓系白血病患者的临床资料,探讨其临床和基因表型特征及预后。方法2017年1月—2022年12月河南省肿瘤医院诊治NUP98-HOX融合基因阳性急性髓系白血病患者9例,提取骨髓液,采用荧光原位杂交技术检测NUP98-HOX融合基因类型,采用二代测序技术检测血液系统肿瘤相关42个基因突变情况。患者骨髓涂片行瑞氏染色,观察FAB分型;骨髓细胞培养24~48 h行染色体核型分析,观察染色体核型异常情况;应用流式细胞仪检测免疫表型。9例患者均按指南行诱导方案治疗,随访6~48个月,观察患者疗效、复发及生存情况。比较NUP98-HOXA9与NUP98-HOXD13融合基因阳性患者发病年龄、白细胞计数、血红蛋白水平、血小板计数、骨髓原始细胞比例及生存时间。结果9例患者中NUP98-HOXA9融合基因阳性6例,NUP98-HOXD13融合基因阳性3例;染色体易位6例,伴附加染色体异常3例;伴FLT3基因突变5例;FAB分型M2a 7例,M41例,M51例。末次随访时,未缓解2例,经2个以上疗程化疗达缓解状态7例,其中缓解后6~13个月复发6例。9例患者中单纯化疗5例,其中存活1例;化疗+异基因造血干细胞移植4例,其中存活2例。9例患者2年存活3例(33.3%),生存时间6~48个月。NUP98-HOXA9融合基因阳性患者初诊时白细胞计数[38.3(25.3,60.5)×10^(9)/L]高于NUP98-HOXD13融合基因阳性患者[3.9(1.4,4.6)×10^(9)/L](Z=2.324,P=0.020),发病年龄、血红蛋白水平、血小板计数、骨髓原始细胞比例、生存时间与NUP98-HOXD13融合基因阳性患者比较差异均无统计学意义(P>0.05)。结论伴NUP98-HOX融合基因阳性的急性髓系白血病患者FAB分型多为M2a,化疗效果差,缓解后复发率高,长期生存率低;造血干细胞移植可能改善患者预后,提高生存率。
Objective To analyze the clinical data of patients with NUP98-HOX fusion gene positive acute myeloid leukemia,and to investigate their clinical and genetic phenotype characteristics and prognosis.Methods Nine patients with NUP98-HOX fusion gene positive acute myeloid leukemia were diagnosed and treated in Henan Cancer Hospital from January 2017 to December 2022.The NUP98-HOX fusion gene type was detected by fluorescence in situ hybridization in bone marrow fluid,and the mutations in 42 genes related to hematologic tumors were detected by next-generation sequencing technology.The bone marrow smear underwent Reye's staining to observe the FAB classification.After 24 to 48 h of bone marrow cell culture,karyotype analysis was performed to observe the abnormal karyotype.Flow cytometry was used to detect immunophenotype.All 9 patients received inductive therapy according to the guidelines,and the efficacy,recurrence and survival were observed after follow-up for 6 to 48 months.The age of onset,white blood cell count,hemoglobin level,platelet count,proportion of bone marrow blasts and survival time were compared between NUP98-HOXA9 and NUP98-HOXD13 fusion gene positive patients.Results In 9 patients,NUP98-HOXA9 fusion gene was positive in 6 patients and NUP98-HOXD13 fusion gene was positive in 3 patients.There were6 patients with chromosomal translocation,and 3 patients with additional chromosomal abnormalities.There were 5patients with FLT3 gene mutation.The FAB classification was M2a in 7 patients,M4 in 1 patient,and M5 in 1 patient.At the latest follow-up,2 patients had no remission,and 7 patients achieved remission after more than 2 chemotherapy courses,among whom 6 patients had recurrence 6 to 13 months after remission.In 9 patients,5 patients received only chemotherapy,among whom 1 patient survived;4 patients received chemotherapy plus allogeneic hematopoietic stem cell transplantation,among whom 2 survived.Nine patients survived for 6 to 48 months,among whom 3 patients survived for2 years.The white blood cell cou
作者
付书贞
刘冰
吕晓娴
焦扬
王园园
边萌
宋真真
毕利军
许青霞
FU Shuzhen;LIU Bing;LYU Xiaoxian;JIAO Yang;WANG Yuanyuan;BIAN Meng;SONG Zhenzhen;BI Lijun;XU Qingxia(Department of Clinical Laboratory,the Affiliated Cancer Hospital of Zhengzhou University,Henan Cancer Hospital,Zhengzhou Key Laboratory of Digestive System Tumor Marker Diagnosis,Zhengzhou,Henan 450008,China;Institute of Biophysics,Chinese Academy of Sciences,Beijing 10010l,China)
出处
《中华实用诊断与治疗杂志》
2023年第10期978-982,共5页
Journal of Chinese Practical Diagnosis and Therapy
基金
河南省医学科技攻关计划省部共建重点项目(SBGJ202102070)。
