摘要
目的:分析幼年型粒单核细胞白血病(JMML)患者相关基因突变情况及其与临床特征的相关性。方法:收集2015年1月至2018年12月福建省多中心19例JMML患儿的基因突变结果及临床资料,并根据基因突变结果,分为伴PTPN11基因突变组和不伴有PTPN11基因突变组,比较2组的临床特征及预后。结果:19例JMML患儿中,男14例,女5例,男∶女:2.8∶1。诊断中位年龄13(3-48)个月,19例中14例(73.68%)<2岁。首诊症状以腹胀、发热多见,所有患儿均有脾肿大。诊断时白细胞数39.82(4.53-103.4)×109/L,单核细胞数4.37(1.04-23.12)×109/L。8例(42.11%)血红蛋白F高于同年龄正常高值。所有患儿费城染色体及BCR-ABL1融合基因均阴性。19例患儿中,1例突变基因检测阴性,18例检测出JMML相关突变基因,其中PTPN11突变7例(36.84%),K-Ras突变6例(31.58%),NF1突变2例(10.53%),N-Ras突变2例(10.53%),同时检出NF1和N-Ras复合突变1例(5.26%)。仅接受支持治疗的15例均死亡,中位生存期9.2(0.4-58.1)个月;4例接受造血干细胞移植,1例死亡,3例存活。相比不伴有PTPN11基因突变组,伴有PTPN11基因突变组血红蛋白F高于同年龄正常值的患者比例更高(P=0.048),中位生存期更短(P=0.046),差异有统计学意义。结论:JMML以男性婴幼儿多见,基因突变类型以PTPN11和Ras突变多见,如不及时干预,多数患儿短期内死亡。积极建议患儿尽早行造血干细胞移植,可能改善预后。
Objective:To analyze the gene mutations of children with juvenile myelomonocytic leukemia(JMML)and their correlation with clinical characteristics.Methods:The genetic mutation results and clinical data of 19 children with JMML in Fujian from January 2015 to December 2018 were collected and analyzed retrospectively.According to the results of gene mutation,they were divided into PTPN11 gene mutation group and non-PTPN11 gene mutation group,and the clinical characteristics and prognosis of children with JMML between two groups were compared.Results:Among the 19 children with JMML,14 cases were male and 5 cases were female,and male/female ratio was 2.8∶1.The median age at diagnosis was 13(3-48)months,and 14 cases(73.68%)were less than 2 years old.Abdominal distension and pyrexia were the common initial symptoms,and all the children with JMML had splenomegaly.The median white blood cell count was 39.82(4.53-103.4)×109/L,and monocyte count was 4.37(1.04-23.12)×10^9/L.HbF was higher than the normal high value of the same age in 8 cases(42.11%).All JMML children's Philadelphia chromosome and BCR-ABL1 fusion gene were negative.Among the 19 patients,there were 1 case without any JMML-related gene mutation,7 cases(36.84%)with PTPN11 mutation,6 cases(31.58%)with K-Ras mutation,2 cases with NF1 mutation(10.53%),2 cases with N-Ras mutation(10.53%),and 1 case(5.26%)with NF1 and N-Ras mutations simultaneously.Fifteen patients who only received supporting therapy all died,with a median survival time 9.2(0.4-58.1)months.Whereas,among the four JMML children who received hematopoietic stem cell transplantation(HSCT),three cases survived and only one case died.Compared with the non-PTPN11 gene mutation group,the proportion of patients with hemoglobin F higher than the normal value of the same age was higher,and the median survival time was shorter in PTPN11 gene mutation group,and the differences were statistically significant(P=0.048 and 0.046,respectively).Conclusion:JMML is more common in male infancy and toddlerhood,and the
作者
翁开枝
郑湧智
庄树铨
陈海榅
乐少华
WENG Kai-Zhi;ZHENG Yong-Zhi;ZHUANG Shu-Quan;CHEN Hai-Yun;LE Shao-Hua(Department of Pediatrics,Zhangzhou Affiliated Hospital of Fujian Medical University,Zhangzhou 363000,Fujian Province,China;Department of Pediatric Hematology,Fujian Institute of Hematology,Fujian Provincial Key Laboratory of Hematology,Fujian Blood Medical Center,Fujian Medical University Union Hospital,Fuzhou 350001,Fujian Province,China;Department of Pediatrics,Quanzhou First Hospital Affiliated to Fujian Medical University,Quanzhou 362000,Fujian Province,China;Department of Pediatrics,Longyan First Hospital,Longyan 364000,Fujian Province,China)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2020年第6期1811-1818,共8页
Journal of Experimental Hematology
基金
福建省血液医学中心建设项目[闽政办(2017)4号]。
