中国中西医结合皮肤性病学杂志2025，Vol.24Issue(5)：390-395,6.
节段型神经纤维瘤病基因突变分析2例
Mutation Analysis in Two Cases of Segmental Neurofibromatosis
摘要
Abstract
Objective In order to explore the pathogenic gene mutations,clinical phenotypes,and treatment of segmental neurofibromatosis(SNF).Methods Two cases of SNF were reported,with the diagnosis confirmed using histopathological and genetic testing techniques.Results The histopathological features of skin lesions in both patients were typical neurofibromas.Sanger sequencing and next-generation sequencing revealed that proband 1 and proband 2 had new heterozygous mutation site c.742A>T and recurrent heterozygous mutation site c.1318C>T in the NF1 gene in neurofibromas,respectively.These mutations led to the nonsense mutations p.K248*and p.R440*.No corresponding pathogenic mutation sites were detected in peripheral blood.Conclusion Both patients are definitively diagnosed with SNF.The pathogenic mutations are identified as c.742A>T and c.1318C>T in the NF1 gene.Proband 1 showed no recurrence of skin lesions after surgical removal,while proband 2 has not been treated.关键词
节段型神经纤维瘤病/NF1基因/基因突变/治疗Key words
Segmental neurofibromatosis/NF1 gene/Gene mutation/Treatment分类
医药卫生引用本文复制引用
李岢贞,卢安童,陈办成,姜彬,于波,黄聪,钟伟龙..节段型神经纤维瘤病基因突变分析2例[J].中国中西医结合皮肤性病学杂志,2025,24(5):390-395,6.基金项目
深圳市医学重点学科建设经费(编号:SZXK040) （编号:SZXK040）
深圳三名工程经费:北京大学第一医院涂平教授皮肤病学专家团(编号:SZSM202311029) （编号:SZSM202311029）
国家自然科学基金(编号:82203900) （编号:82203900）
广东省基础与应用基础研究基金联合基金(编号:2021A1515111009) （编号:2021A1515111009）
深圳皮肤疾病分子诊断公共服务平台(含提升). （含提升）
