摘要
目的分析10例子宫内膜癌患者癌组织与正常癌旁组织的DNA拷贝数变异(copy number variation,CNV),为患者的个体化诊疗方案提供依据。方法收集2018年8月至2019年7月在甘肃省妇幼保健院进行子宫内膜癌手术的10例患者的癌组织及癌旁组织。经病理切片HE染色排除组织污染后,采用石蜡包埋组织基因组DNA提取试剂盒提取组织DNA。采用昂飞公司的750 K基因芯片进行CNV分析。结果10例子宫内膜癌患者的癌组织中有6例检测到了CNV,其中5例患者癌组织标本仅检测到重复或嵌合重复,1例患者中既检测到了重复或嵌合重复也检测到了缺失及嵌合缺失。检测到的20种CNVs,分布在1、4、6、8、10、13、14、16、17、19、22号染色体上,且主要集中在8号与10号染色体上。在对应的癌旁组织中均未检测到100 Kb以上CNVs。结论子宫内膜癌组织中CNV存在一定异质性,仍需继续扩大样本量进行研究,并随访患者的生存时间及预后情况,来揭示检测子宫内膜癌组织CNV对患者进行精准治疗的价值。
Objective:To analyze the copy number variation(CNV)of cancer tissue and normal adjacent tissue in 10 patients with endometrial cancer for providing a basis for individualized treatment.Methods:The cancer tissues and adjacent tissues of 10 patients who underwent endometrial cancer surgery in Gansu Maternal and Child Health Hospital from August 2018 to July 2019 were collected.The pathological sections were stained with HE,and the tissue DNA was extracted by using paraffin-embedded tissue genomic DNA extraction kit after eliminating tissue contamination.Affymetrix 750 K gene chip was used for DNA copy number variation analysis.Results:CNV was detected in 6 of 10 cancer tissues.Among them,only duplication or mosaic duplication was detected in the cancer tissue samples of 5 patients,and both duplication or mosaic duplication as well as deletion and mosaic deletion were detected in one patient.Total 20 CNV variants(CNVs)were found in the cancer tissues,which distributed on chromosome 1,4,6,8,10,13,14,16,17,19,22,mainly concentrated on chromosome 8 and 10.No CNVs were found in the normal adjacent tissue.Conclusions:There is a certain degree of heterogeneity in the molecular characteristics of endometrial cancer tissues.It is still necessary to expand the sample size for deep research,and to explore the value of detecting CNVs for individualized treatment of patients with endometrial cancer.
作者
张钏
郝胜菊
张庆华
周秉博
陈雪
冯暄
刘芙蓉
王晓黎
李富萍
刘亚利
刘青
马旭
曹宗富
ZHANG Chuan;HAO Sheng-ju;ZHANG Qing-hua;ZHOU Bing-bo;CHEN Xue;FENG Xuan;LIU Fu-rong;WANG Xiao-li;LI Fu-ping;LIU Ya-li;LIU Qing;MA Xu;CAO Zong-fu(National Research Institute for Health and Family Planning,Beijing 100081;Graduate School of Peking Union Medical College,Beijing 100730;Gansu Province Medical Genetics Center,Gansu Province Maternal and Child Health Care Hospital,Lanzhou 730050)
出处
《生殖医学杂志》
CAS
2020年第11期1507-1511,共5页
Journal of Reproductive Medicine
基金
甘肃省自然科学基金(18JR3RA036、1606RJZA151、1606RJZA159)
国家人口与生殖健康科学数据中心(2005DKA32408)
中央级公益性科研院所基本科研业务费(2019GJZ07)。
关键词
子宫内膜癌
拷贝数变异
个体化治疗
预后
Endometrial cancer
Copy number variation
Individualized treatment
Prognosis
