摘要/Abstract

摘要： 目的 ·探讨伴发癫痫等神经系统异常的痣样基底细胞癌综合征（ nevoid basal cell carcinoma syndrome，NBCCS）一家系的临床和基因突变特点。方法 ·回顾性分析 1例以癫痫发作为主要表现在上海交通大学医学院附属同仁医院神经内科就诊的先证者的临床资料。取先证者切除的皮肤痣组织进行苏木精 -伊红（ hematoxylin-eosin，H-E）染色，取先证者及其家系成员的外周血 DNA行全外显子测序及家系内成员共分离验证。结果 ·根据 NBCCS的临床诊断标准，先证者高度疑诊为患有 NBCCS。先证者切除的皮肤痣 H-E染色结果提示基底细胞癌的典型病理表现。基因测序结果明确该家系 patched 1（PTCH1）基因 20号外显子 c.3364_3365del碱基杂合缺失突变。结论 · PTCH1基因 20号外显子 c.3364_3365del碱基杂合缺失突变有可能是 PTCH1基因突变的潜在热点，合并癫痫等神经系统表现为此突变型 NBCCS的特点之一。
关键词: 痣样基底细胞癌综合征, PTCH1基因, 突变, 癫痫
Abstract:
Objective · To investigate the clinical and genetic characteristics of nevoid basal cell carcinoma syndrome (NBCCS) combined with epilepsy. Methods · The clinical data of a proband with the symptom of epileptic seizures in Department of Neurology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine was retrospectively analyzed. Facial nevoid was resected and hematoxylin-eosin (H-E) staining was examined. Wholeexome sequencing was performed on the blood DNA of the proband and his family members. Sanger sequencing was used for co-segregation analysis. Results · The proband was highly suspected of having NBCCS according to the clinical diagnostic criteria of NBCCS. H-E staining showed typical pathological features of basal cell carcinoma. Heterozygous deletion at c.3364_3365del base in the exon 20 of patched 1 (PTCH1) gene was found in this family. Conclusion · The heterozygous deletion in the exon 20 of PTCH1 gene (c.3364_3365del) may be a potential hot spot mutation for NBCCS, especially in patients combined with neurological manifestations, such as epilepsy.
Key words: nevoid basal cell carcinoma syndrome, PTCH gene, mutation, epilepsy


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