2例1型神经纤维瘤病患儿病例报告

Case reports of two children with neurofibromatosis type 1

目的报告2例1型神经纤维瘤病(neurofibromatosis type 1,NF1)患儿的临床表现特点及基因检测结果,结合NF1现有诊疗进展,为NF1患儿的综合诊疗及随访提供参考。方法选择海口市人民医院儿童医学部2022年5月、6月收治的2例NF1患儿,分析其临床表现、实验室检查、基因检测结果、诊治及随访等资料。结果2例患儿均有典型的皮肤咖啡牛奶斑、腋窝雀斑、眼内虹膜错构瘤等临床表现,采集病例1患儿及其父母静脉血送检NF基因检测,发现NF1基因新生变异c.4084C>T,其父母无致病基因。采集病例2患儿静脉血送检全外显子组基因分析,发现NF1基因上1个杂合无义变异c.910C>T:p.R304,Sanger测序验证该变异遗传自母亲,母亲有皮肤咖啡牛奶斑及脑部胶质瘤,已行胶质瘤切除术,目前未行放化疗及靶向治疗。随访至2022年7月2例患儿均未检测出神经系统恶性肿瘤。结论NF1临床表现相对典型,基因检测有利于确定分型,定期随访复查有助于对恶性肿瘤早发现早治疗,提高患者的生存质量。

Objective To report the clinical characteristics and genetic test results of two children with neurofibromatosis type 1(NF1),and to provide reference for the comprehensive diagnosis-treatment and follow-up plans of NF1 patients based on the existing diagnosis and treatment progress of NF1.Methods Two children with NF1 admitted to the Department of Children's Medicine,Haikou people's Hospital in May and June 2022 were selected to analyze the clinical data of their clinical manifestations,laboratory examination,genetic test results,diagnosis and treatment and follow-up retrospectively.Results Two children had typical clinical manifestations,such as café-au-lait spots,axillary freckles,intraocular iris hamartoma.Venous blood was collected from case 1 and his parents for NF gene test,and a new mutation of c.4084C>T in the NF1 gene was found,and their parents did not have the pathogenic gene;the venous blood of the children in case 2 was tested for whole-exome gene analysis,and a heterozygous nonsense variant c.910C>T:p.R304 on the NF1 gene was found,,which was verified by Sanger sequencing to be inherited from his mother,his mother has café-au-lait spots and brain glioma,and has undergone surgery to remove the brain glioma,but has not undergone chemoradiotherapy or targeted therapy.No neurological malignancies were detected in either of the two children at follow-up until July 2022.Conclusions The clinical manifestations of NF1 are relatively typical,genetic testing is conducive to determine its classification,and regular follow-up review can help to detect and treat malignant tumors early,thus improving the patient's quality of life.