10例伴TLS-ERG融合基因阳性儿童急性白血病临床病例分析  

Clinical studies on 10 acute leukemia children with positive TLS-ERG fusion gene

作　　者：林巍[1] 谢静[1] 郑胡镛[1] 张元元[1] 吴颖[1] 范佳[1] 漆佩静[1] 郜慧芳[1] 张瑞东[1] 

机构地区：[1]首都医科大学附属北京儿童医院血液肿瘤中心,北京100045

出　　处：《中国小儿血液与肿瘤杂志》2016年第2期73-76,共4页Journal of China Pediatric Blood and Cancer

基　　金：北京市医院管理局临床医学发展专项经费(ZY201404);北京市教委科技重点项目:儿童急性淋巴细胞白血病微小残留病检测多中心协作组建立及意义(KZ201210025031)

摘　　要：目的探讨TLS-ERG融合基因对于儿童急性白血病的影响。方法回顾及总结分析2006年1月-2014年12月在北京儿童医院血液肿瘤中心诊断急性白血病且TLS-ERG融合基因阳性患儿的临床特征、治疗、危险度评估及预后。结果 1500例急性白血病患儿中检测出10例(0.6%)伴有TLS-ERG融合基因,其中男7例,女3例,中位年龄8岁,急性淋巴细胞白血病(ALL)6例,急性髓细胞白血病(AML)4例。6例ALL患儿中,免疫分型:4例为普通B淋巴细胞表型,1例为前B淋巴细胞表型,1例为带髓系标记的B淋巴细胞表型;危险度评估:2例为标危,4例为中危。4例AML患儿中,3例为AML-M2型,1例为AML-M5型。ALL患儿按照中国儿童白血病协作组(CCLG)-ALL 2008方案进行化疗,6例均在诱导缓解期达到完全缓解,按照化疗方案规律治疗,定期检测微小残留病(MRD)均小于1×10^(-4)。4例AML患儿中,2例患儿在第一疗程ADE(阿糖胞苷+柔红霉素十依托泊苷)化疗第21d复查骨穿提示未缓解,放弃治疗;1例患儿完成第一轮ADE化疗后骨髓完全缓解,按照化疗方案完成两轮ADE、MIT+ARA(米托蒽醌+阿糖胞苷)、CLASP(阿糖胞苷+左旋门冬酰胺酶)化疗后复发,后放弃治疗;1例患儿第一疗程化疗后完全缓解,后经过2疗程ADE、MIT/ARA、CLASP后骨髓细胞学完全缓解,TS-ERG融合基因仍阳性,故行父亲6/10HLA半相合造血干细胞移植,随访至今。结论 TLS-ERG融合基因在儿童急性白血病中阳性率低,但在ALL及AML患儿中均可发生。根据本中心资料,该融合基因对于ALL患儿的治疗及预后影响不大,但伴有TLS-ERG融合基因的急性髓细胞白血病患儿治疗困难,预后较差。该融合基因发生率较低,单中心资料有限,故需要多中心更大宗的资料进一步证实。Objective To investigate the clinical significance of TLS-ERG fusion gene forchildhood acute leukemia. Methods Ten children diagnosed with acute leukemia with TLS-ERG fusion gene in Hematology Oncology center, Beijing children＇ s hospital from January 2006 to December 2014 were enrolled in the study. Their clinical symptoms, risk assessment, treatment and outcomes were retrospectively studied. Results Ten children （7males and 3 females） with a mean age of 8 years hadbeen detected to have TLS-ERG fusion gene, from 1500 patients （0. 6%）, including 6 acute lymphoblastic leukemia（ALL） patients, and 4 acute myeloid leukemia（AML） patients. In 6 cases of ALL children,4 cases were with normal B lymphocyte phenotype, one with B lymphocyte phenotype, one with B lymphocyte phenotype with myeloid markers. In 4 cases of AML children, 3 cases were AML-M2 and 1 case was AML-M5. Among 6 ALL children, 2 as standard risk and 4 as the middle risk. Six ALL children were treated based on Chinese Children Leukemia Cooperative Group （CCLG） -ALL 2008 regimen, all cases got complete remission, with residual disease （MRD） less than 1 × 10^ -4. Two out of four cases with AML had not got complete remission after the first ADE （cytarabine, daunorubicin, etoposide） chemotherapy, one case got complete remission after the first round of ADE chemotherapy, and then completed the ADE, MIT/ARA Mitoxantrone/cytarabine ） CLASP （ cytarabine/L-asparaginase ） , and finally he relapsed. One AML patient still had positive TLS-ERG fusion gene even after CR, therefore he received 6/10 haploidentical hematopoietic stem cell transplantation. Conclusions TLS-ERG fusion gene occurs in both ALL and AML in children. Our limited data showed that TLS-ERG fusion gene might be associate with prognosis in AML, rather than in ALL.

关 键 词：TLS-ERG融合基因 急性淋巴细胞白血病 急性髓细胞白血病 儿童 

分 类 号：R733.71[医药卫生—肿瘤]