Ⅰ型神经纤维瘤病伴NF1基因突变2例  

Neurofibromatosis Type 1 with NF1 Gene Mutation:Two Cases Report

作　　者：张逸 吕新翔[1] 韩建文[1] ZHANG Yi;LYU Xinxiang;HAN Jianwen(Department of Dermatology,the Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010050,China)

机构地区：[1]内蒙古医科大学附属医院皮肤科,内蒙古呼和浩特010050

出　　处：《中国皮肤性病学杂志》2023年第6期697-700,共4页The Chinese Journal of Dermatovenereology

基　　金：内蒙古科技计划项目(2019GG082);内蒙古医科大学青年培育项目(YKD2021QN001)。

摘　　要：例1男,17岁,全身多发色素斑17年。皮肤科情况:躯干四肢多发色素性斑片及散在绿豆大小增生物。皮损组织病理示:真皮内肿物由大量疏松排列的S形核细胞组成,并见肥大细胞。全外显子测序及Sanger测序示:NF1基因存在杂合无义突变c.3256C>T,导致氨基酸改变p.Q1086X。诊断:Ⅰ型神经纤维瘤病。例2女,29岁,躯干四肢结节8个月。皮肤科情况:躯干四肢多发色素性斑片及散在绿豆大小肿物。皮损组织病理示:真皮内肿物由大量疏松排列的S形核细胞组成,胞浆少,淡染,并见肥大细胞。全外显子测序及Sanger测序示:NF1基因存在杂合无义突变c.6709C>T,导致氨基酸改变p.R2237X。诊断:Ⅰ型神经纤维瘤病。Patient 1,a 17-year-old male,presented with multiple pigmented patches all over his body for 17 years.Examination of the skin revealed that multiple pigmented patches on the trunk and limbs and scattered mung bean-sized masses.Histopathological examination of skin lesions showed that the mass in the dermis consisted of a large number of loosely arranged cells whose nucleus were S-shaped,and mast cells were observed.Whole-exome sequencing and Sanger sequencing confirmed that heterozygous nonsense mutation c.3256C>T existed in NF1 gene,leading to amino acid change p.Q1086X.The diagnosis of neurofibromatosis type 1 was made.Patient 2,a 29-year-old female,presented with nodules on the trunk and limbs for 8 months.Examination of the skin revealed multiple pigmented patches on the trunk and limbs and scattered mung bean-sized masses.Histopathological examination of skin lesions showed that the mass in the dermis was composed of plenty of loosely arranged cells whose nucleus were S-shaped and plasma was sparse and lightly stained,and mast cells were seen.Whole-exome sequencing and Sanger sequencing confirmed that there was heterozygous nonsense mutation c.6709C>T in NF1 gene,leading to amino acid change p.R2237X.The patient was diagnosed as neurofibromatosis type 1.

关 键 词：Ⅰ型神经纤维瘤病 NF1基因 无义突变 

分 类 号：R739.4[医药卫生—肿瘤]