Page 88 - 南京医科大学学报自然科学版

南京医科大学学报（自然科学版） 第42卷第5期
·684 · Journal of Nanjing Medical University（Natural Sciences） 2022年5月

·临床研究·

原发性肺腺样囊性癌及黏液表皮样癌的基因突变及表达谱系

构建

韩 玉 ，何 薇 ，吴桢珍 ，李 翀 ，丁 浩 ，赵 欣 ，黄 茂 1*
1
1
1
2
3
1*
南京医科大学第一附属医院呼吸与危重症医学科，江苏 南京 210029；常州市第一人民医院呼吸内科，江苏 常州
1 2
213000；镇江市第一人民医院呼吸内科，江苏 镇江 212000
3
［摘 要］ 目的：探索肺原发性腺样囊性癌（adenoid cystic carcinoma，ACC）及黏液表皮样癌（mucoepidermoid carcinoma，MEC）
基因突变及表达谱特征。方法：纳入14例原发性肺ACC及24例原发性肺MEC患者，收集患者的肿瘤组织及癌旁样本，分别提
取DNA；通过416panel靶向捕获测序进行DNA层面的突变分析，提取RNA，通过mRNA全转录组测序进行基因融合及表达谱
分析。结果：原发性肺ACC最常见的突变为MYB/MYBL1融合，占比为78.5%（11/14）；肺MEC患者中最常见变异为MAML2融
合，占比50%（12/24），另有3例MEC患者检测到EWSR1融合，1例MEC患者出现ROS1融合。在癌组织及癌旁组织RNA差异
表达基因中，肺ACC检测到SOX10、BCL11A等基因表达上调，肺MEC最主要差异上调基因为TFAP2A。结论：SOX10、BCL11A
可能成为肺ACC新的生物标记点，TFAP2A与肺MEC对安罗替尼的耐药相关。
［关键词］ 肺黏液表皮样癌；肺腺样囊性癌；基因突变；RNA
［中图分类号］ R734.2 ［文献标志码］ A ［文章编号］ 1007⁃4368（2022）05⁃684⁃06
doi：10.7655/NYDXBNS20220513

Gene mutation and expression lineage construction of primary lung adenoid cystic
carcinoma and mucoepidermoid carcinoma
1 1 1 2 3 1* 1*
HAN Yu ，HE Wei ，WU Zhenzhen ，LI Chong ，DING Hao ，ZHAO Xin ，HUANG Mao
Department of Respiratory and Critical Care Medicine，the First Affiliated Hospital of Nanjing Medical University，
1
Nanjing 210029；Department of Respiratory and Critical Care Medicine，Changzhou First People’s Hospital，
2
3
Changzhou 213000；Respiratory Medicine，Zhenjiang First People’s Hospital，Zhenjiang 212000，China

［Abstract］ Objective：This study aims to discover the characteristics of gene mutation and gene expression profile of primary
adenoid cystic carcinoma（ACC）and mucoepidermoid carcinoma（MEC）in the lungs by sequencing. Methods：Total 14 cases of lung
ACC and 24 cases of lung MEC were enrolled. Samples of tumor tissues and adjacent tissues were collected. After extracting DNA and
RNA，DNA and RNA transcription group were used to gene sequencing and bioinformatics analysis. Results：Among the detected
DNA mutations in cancer tissues，MYB/MYBL1 fusion was detected in 78.5%（11/14）lung ACC patients. The most common mutation
in lung MEC patients was MAML2 rearrangement，and 3 MEC patients had EWSR1 fusion，and 1 case ROS1 fusion occurs in MEC
patients. Among the RNA differential genes in cancer tissues and adjacent tissues，SOX10 and BCL11A are highly expressed in lung
ACC，and the most differentially expressed gene in lung MEC is TFAP2A. Conclusion：SOX10 and BCL11A may become new
biomarkers of lung ACC. TFAP2A is related to lung MEC resistance to anlotinib.
［Key words］ lung mucoepidermoid carcinoma；lung adenoid cystic carcinoma；gene mutation；RNA
［J Nanjing Med Univ，2022，42（05）：684⁃689］

［基金项目］ 白求恩肿瘤临床研究计划（BLF⁃XD⁃XL⁃20220118⁃006）；江苏省医学重点专科（呼吸病学）（XK201133）
∗
通信作者（Corresponding author），E⁃mail：xinzhao1104@163.com；hm6114@126.com