Shi Y, Lu Y, Zhang R D, Zhang Y Y, Lin W, Yu J J, Wu Y, Fan J, Qi P J, Huang P L, Cai L X, Huang Q, Zhang P, Sun Y M, Liu Y, Zheng H Y
Hematology Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Clinical Discipline of Pediatric Hematology, National Key Discipline of Pediatrics, Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing 100045, China.
Hematology Oncology Center, Baoding Children's Hospital,Baoding Key Laboratory of Precision Medicine for Pediatric Hematology Oncology, Hematology Oncology Center of National Center for Children's Health in Baoding, Baoding 071027, China.
Zhonghua Er Ke Za Zhi. 2024 Jan 2;62(1):49-54. doi: 10.3760/cma.j.cn112140-20230720-00020.
To analyze the clinical characteristics and prognosis of patients with infant acute lymphoblastic leukemia (IALL). A retrospective cohort study.Clinical data, treatment and prognosis of 28 cases of IALL who have been treated at Beijing Children's Hospital, Capital Medical University and Baoding Children's Hospital from October 2013 to May 2023 were analyzed retrospectively. Based on the results of fluorescence in situ hybridization (FISH), all patients were divided into KMT2A gene rearrangement (KMT2A-R) positive group and KMT2A-R negative group. The prognosis of two groups were compared. Kaplan-Meier method and Log-Rank test were used to analyze the survival of the patients. Among 28 cases of IALL, there were 10 males and 18 females, with the onset age of 10.9 (9.4,11.8) months. In terms of immune classification, 25 cases were B-ALL (89%), while the remaining 3 cases were T-ALL (11%). Most infant B-ALL showed pro-B lymphocyte phenotype (16/25,64%). A total of 22 cases (79%) obtained chromosome karyotype results, of which 7 were normal karyotypes, no complex karyotypes and 15 were abnormal karyotypes were found. Among abnormal karyotypes, there were 4 cases of t (9; 11), 2 cases of t (4; 11), 2 cases of t (11; 19), 1 case of t (1; 11) and 6 cases of other abnormal karyotypes. A total of 19 cases (68%) were positive for KMT2A-R detected by FISH. The KMT2A fusion gene was detected by real-time PCR in 16 cases (57%). A total of 24 patients completed standardized induction chemotherapy and were able to undergo efficacy evaluation, 23 cases (96%) achieved complete remission through induction chemotherapy, 4 cases (17%) died of relapse. The 5-year event free survival rate (EFS) was (46±13)%, and the 5-year overall survival rate (OS) was (73±10)%.The survival time was 31.3 (3.3, 62.5) months. There was no significant statistical difference in 5-year EFS ((46±14)% (61±18)%) and 5-year OS ((64±13)% (86±13)%) between the KMT2A-R positive group (15 cases) and the KMT2A-R negative group (9 cases) (=1.88, 1.47, =0.170, 0.224). Most IALL patients were accompanied by KMT2A-R. They had poor tolerance to traditional chemotherapy, the relapse rate during treatment was high and the prognosis was poor.
分析婴儿急性淋巴细胞白血病(IALL)患者的临床特征及预后。进行一项回顾性队列研究。回顾性分析2013年10月至2023年5月在首都医科大学附属北京儿童医院和保定市儿童医院接受治疗的28例IALL患者的临床资料、治疗及预后情况。根据荧光原位杂交(FISH)结果,将所有患者分为KMT2A基因重排(KMT2A-R)阳性组和KMT2A-R阴性组,比较两组预后。采用Kaplan-Meier法和Log-Rank检验分析患者生存情况。28例IALL患者中,男10例,女18例,发病年龄为10.9(9.4,11.8)个月。免疫分型方面,25例为B-ALL(89%),其余3例为T-ALL(11%)。多数婴儿B-ALL表现为前B淋巴细胞表型(16/25,64%)。共22例(79%)获得染色体核型结果,其中7例为正常核型,未发现复杂核型,15例为异常核型。异常核型中,t(9;11)4例,t(4;11)2例,t(11;19)2例,t(1;11)1例,其他异常核型6例。FISH检测KMT2A-R阳性共19例(68%)。16例(57%)采用实时荧光定量PCR检测到KMT2A融合基因。共24例患者完成标准化诱导化疗并可进行疗效评估,23例(96%)通过诱导化疗达到完全缓解,4例(17%)死于复发。5年无事件生存率(EFS)为(46±13)%,5年总生存率(OS)为(73±10)%。生存时间为31.3(3.3,62.5)个月。KMT2A-R阳性组(15例)与KMT2A-R阴性组(9例)的5年EFS((46±14)% 比(61±18)%)和5年OS((64±13)% 比(86±13)%)差异无统计学意义(=1.88,1.47,=0.170,0.224)。多数IALL患者伴有KMT2A-R,对传统化疗耐受性差,治疗期间复发率高,预后差。