摘要
目的探讨E2A﹣HLF融合基因在急性B淋巴细胞白血病(B﹣ALL)预后评估中的作用,提高分层治疗的精确性.方法回顾性分析山西医科大学第二医院既往收治的2例B﹣ALL伴E2A﹣HLF阳性患者的临床特征、不同方案的治疗效果、生存期等,并复习相关文献.结果例1为女性儿童,8岁,以发热、腹痛起病,白细胞计数(WBC)轻度增高,伴有高钙血症;例2为青年男性,27岁,以下颌骨疼痛、贫血起病,WBC正常.2例患者免疫标志均提示为急性前B淋巴细胞白血病(pre﹣B﹣ALL);例1初诊时基因筛查显示E2A﹣HLF阳性,例2复发后基因筛查发现E2A﹣HLF阳性.2例患者均早期接受了以大剂量甲氨蝶呤为主的强化治疗方案,但分别在完全缓解后3个月及半年复发.例1复发后未接受异基因造血干细胞移植(allo﹣HSCT),因严重感染死亡;例2积极接受了allo﹣HSCT,移植后5个月内复查持续完全缓解,E2A﹣HLF阴性,但最终因移植后多种并发症死亡.结论伴E2A﹣HLF融合基因的B﹣ALL多为pre﹣B﹣ALL,易合并高钙血症,易发生多药耐药,早期复发率高,预后极差.allo﹣HSCT可提高无白血病生存率,完全缓解后尽早行HSCT可能减少复发、改善总生存.
Objective To explore the role of E2A-HLF fusion gene in the prognosis evaluation of B-cell acute lymphoblastic leukemia(B-ALL),and to improve the accuracy of stratified treatment.Methods The clinical characteristics,treatment effect and survival time of two B-ALL patients with E2A-HLF fusion gene who were admitted to the Second Hospital of Shanxi Medical University were retrospectively analyzed,and the related literature was reviewed.Results The first patient was an 8 years old girl,developed with fever,abdominal pain,and slightly increased white blood cells(WBC),and also accompanied by hypercalcemia.Another patient was a 27 years old man,developed with jaw pain and anemia,WBC was normal.Precursor B-ALL(pre-B-ALL)was identified by flow cytometry(FCM)in the two cases.E2A-HLF fusion gene was screened out at first diagnosis for the girl,but found after relapse for the man.Both patients early received intensive treatment with high-dose methotrexate after the first complete remission,but relapsed after 3 and 6 months respectively.The girl did not receive allogeneic hematopoietic stem cell transplantation(allo-HSCT)after relapse and died of severe infection.The man received allo-HSCT complete remission,and maintained complete remission within 5 months after HSCT,E2A-HLF fusion gene was also negative,but eventually died of multiple transplantation-related complications.Conclusions E2A-HLF fusion gene occurs mostly in the pre-B-ALL patients with hypercalcemia,and it shows extremely poor prognosis with a high multidrug resistance rate and high early recurrence rate.The allo-HSCT can increase the leukemia-free survival rate,and the relapse and overall survival may be improved when these patients received allo-HSCT in the first complete remission.
作者
张建华
杨林花
Zhang Jianhua;Yang Linhua(Department of Hematology, the Second Hospital of Shanxi Medical University, the Second Medical College of Shanxi Medical University, Taiyuan 030001, China)
出处
《白血病．淋巴瘤》
CAS
2019年第7期404-407,共4页
Journal of Leukemia & Lymphoma
