1型神经纤维瘤病伴急性B系淋巴细胞白血病1例  

Type 1 neurofibromatosis in a three-year-old girl with Blineageacute lymphocytic leukemia:A case report

作　　者：赵孟文[1] 陈志衡[1] 申婕 赵明一[1] ZHAO Mengwen;CHEN Zhiheng;SHEN Jie;ZHAO Mingyi(Department of Pediatrics,Third Xiangya Hospital,Central South University,Changsha 410013,China)

机构地区：[1]中南大学湘雅三医院儿科,长沙410013

出　　处：《中南大学学报（医学版）》2020年第11期1378-1383,共6页Journal of Central South University ：Medical Science

基　　金：the Natural Science Foundation of Hunan Province,China(2020JJ4864)。

摘　　要：1型神经纤维瘤病(neurofibromatosis 1,NF1)是一种常染色体显性遗传疾病,最早在儿童时期出现,可以累及多个器官并影响儿童期发育和神经认知状态。患者易发生良、恶性肿瘤。2018年9月30日中南大学湘雅三医院儿科收治了1例罕见的NF1伴急性B系淋巴细胞白血病的患儿。自出生起,该患儿就出现了咖啡斑。此次因反复发烧和腹痛一个多月入院,经骨髓细胞形态学检查和免疫表型检测确诊为急性B系淋巴细胞白血病。其ETV6/RUNX1融合基因为阳性。通过基因测序在患儿的NF1基因的外显子中发现了c.2773delT(p.Leu925Ter)的新生突变,此无义突变导致肽链合成提前终止。对NF1疑似患者,尤其是对仅满足诊断标准中色素斑的儿童,建议进行分子遗传学检查以确诊,并对其进行长期随访。Neurofibromatosis 1(NF1)is an autosomal dominant genetic disease first manifesting in childhood,which affects multiple organs,childhood development and neurocognitive status.These patients have a high predisposition to develop both benign and malignant tumors.On September 30,2018,a rare case of NF1 with B-lineage acute lymphocytic leukemia(ALL)was treated in the Department of Pediatrics,Third Xiangya Hospital,Central South University.The child presented with caféau lait macules(CALM)since the date of birth.And the diagnosis of B-lineage ALL was made by bone marrow cytomorphologic examination and immunological phenotype detection.ETV6/RUNX1 fusion gene was positive.Also,a de novo mutation of c.2773delT(p.Leu925Ter)was found in the exon of NF1 gene by gene sequencing,which was a nonsense mutation and led to the premature termination of peptide synthesis.Molecular genetic testing is recommended to confirm NF1,particularly in children with only pigmentary features of the diagnostic criteria.NF1-affected individuals should be referred to a specialist of NF1 clinical network for long-term follow-up and surveillance.

关 键 词：1型神经纤维瘤病 急性淋巴细胞白血病 新生突变 

分 类 号：R733.7[医药卫生—肿瘤] R725.9[医药卫生—临床医学]