姐弟共患急性白血病长期存活病例并文献复习  

Longterm survival of sibling children with acute leukemia and literature review

作　　者：李园 赵卫红[1] LI Yuan;ZHAO Weihong(Department of Pediatric,First Hospital,Peking University, Beijing 100034,China)

机构地区：[1]北京大学第一医院儿科,北京100034

出　　处：《中国小儿血液与肿瘤杂志》2021年第4期233-237,共5页Journal of China Pediatric Blood and Cancer

摘　　要：目的探讨非同卵双生的兄弟姐妹患急性白血病的遗传因素及治疗情况。方法对一个家系中先后患急性白血病姐弟两人的临床特征、治疗和基因检测结果进行分析。结果1岁10个月弟弟诊断AML,化疗后达到完全缓解,随访至2021年3月,患儿已无事件生存4年10个月,其同卵双生的弟弟同期随访未出现白血病表现。5岁姐姐在其弟弟发病后6个月诊断为ALL,L2型,前体B细胞型,ETV6-RUNX1基因阳性,临床标危,化疗后已随访4年3个月无事件生存。姐弟两人未发现明确的毒物、药物、放射性等接触病史,全外显子检测显示姐姐为新发NF1外显子29杂合缺失,弟弟及其父母NF1均为野生型;另外,姐姐还携带有CSF3R、NUMA1和RUNX1的杂合突变,弟弟仅携带CSF3R、NUMA1的杂合突变,都分别来自于父亲和母亲,都没有TP53的异常。结论非同卵双生兄弟姐妹患急性白血病,经过积极的规范化治疗可以取得良好预后,其发病的遗传学证据可能需要更深程度和更全面的的基因检测和功能检测。Objective To investigate the genetic factors and treatment outcome of non-twinned siblings with acute leukemia.Methods The clinical characteristics,chemotherapy protocol and whole exon gene testing of two leukemia patients(a sister and a younger brother)came from the same family were analyzed.Results The younger brother was diagnosed with acute myeloid leukemia(AML)at the age of 22 months.He achieved complete remission after chemotherapy and had a long-term event-free survive of 58 months followed up to March,2021.His twinned younger brother does not appear leukemia during the same follow-up time.About 6 months after the onset of his disease,his 5 years old sister was diagnosed with acute lymphoblast leukemia(ALL),L2,the precursor B-cell type,standard risk,ETV6-RUNX1 fusion gene positive.After chemotherapy,she survived without leukemia and other events for 51 months to follow up date.No clear history of exposure to toxins,drugs,radioactivity,etc.,was found within the younger brother,sister and other members in the family.The whole exon gene sequence showed that the sister got de novo NF1 exon 29 heterozygosity deletion,while the younger brother and their parents were all wild type.The sister also carried heterozygous mutations of CSF3R,NUMA1 and RUNX1,while the brother only carried heterozygous mutations of CSF3R and NUMA1,both from father and mother,respectively.TP53 gene anomalies was not detected,too.Conclusions Non-twinned siblings with acute leukemia,through the standardized treatment,could achieve good outcome.The genetic evidence of acute leukemia occurrence may be need deeper and more comprehensive study.

关 键 词：急性白血病 非同卵兄弟姐妹 儿童 遗传因素 

分 类 号：R73[医药卫生—肿瘤]