PGT在遗传性肿瘤生殖干预中的应用进展

曹现岭; 周宣佑; 陈松长; 黄荷凤; 徐晨明

doi:10.19401/j.cnki.1007-3639.2022.11.001

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PGT在遗传性肿瘤生殖干预中的应用进展

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- PGT在遗传性肿瘤生殖干预中的应用进展
- Progress in the application of PGT in hereditary tumors
- 中国癌症杂志 2022年32卷第11期页码：1037-1043
- 作者机构：
  
  1. 复旦大学附属妇产科医院妇产科遗传中心，上海 200011
  2. 复旦大学生殖与发育研究院，上海 200032
- 作者简介：
  
  [ "曹现岭（ORCID: 0000-0001-9544-7419），博士在读。" ]
  [ "徐晨明，博士，研究员，博士研究生导师，复旦大学附属妇产科医院妇产科遗传中心副主任。从事生殖遗传、产前诊断的临床和科研工作20余年，主要研究方向是生殖相关疾病的发病机制研究、植入前胚胎遗传学检测、产前遗传诊断的技术研发和临床转化应用。兼任上海市医学会分子诊断专科分会副主任委员、中国医师协会医学遗传医师分会委员、中国遗传学会遗传诊断分会委员等。主持国家自然科学基金项目5项和上海市科学技术委员会课题4项，作为骨干人员参加国家重大研究计划、国家重点研发计划3项，作为主要完成人获得国家级及省部级奖励多项。近年来在Cell Discovery、Clinical Chemistry、Thyroid等国内外学术刊物上发表论文60余篇，主编和副主编专著各1部，参编专著6部，获国家发明专利4项。" ]
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2022.11.001
  中图分类号： R73
- 收稿：2022-10-15，
  
  修回：2022-11-15，
  
  纸质出版：2022-11-30
- 稿件说明：
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曹现岭, 周宣佑, 陈松长, 等. PGT在遗传性肿瘤生殖干预中的应用进展[J]. 中国癌症杂志, 2022,32(11):1037-1043.

Xianling CAO, Xuanyou ZHOU, Songchang CHEN, et al. Progress in the application of PGT in hereditary tumors[J]. China Oncology, 2022, 32(11): 1037-1043.
曹现岭, 周宣佑, 陈松长, 等. PGT在遗传性肿瘤生殖干预中的应用进展[J]. 中国癌症杂志, 2022,32(11):1037-1043. DOI： 10.19401/j.cnki.1007-3639.2022.11.001.

Xianling CAO, Xuanyou ZHOU, Songchang CHEN, et al. Progress in the application of PGT in hereditary tumors[J]. China Oncology, 2022, 32(11): 1037-1043. DOI： 10.19401/j.cnki.1007-3639.2022.11.001.

摘要

遗传性肿瘤本质上是遗传物质缺陷导致的疾病，大多数呈现出孟德尔常染色体显性遗传规律，不仅危害患者的健康，而且对后代构成严重威胁。遗传性肿瘤胚胎植入前遗传学检测（preimplantation genetic testing，PGT）是利用外受精-胚胎移植（

in vitro

fertilization and embryo transfer，IVF-ET）和遗传学检测技术，对卵母细胞的极体、第3天的胚胎或第5天的囊胚进行遗传性肿瘤致病基因的检测，选择无遗传性肿瘤易感基因致病性变异的胚胎移植到子宫中，从而阻断遗传性肿瘤的子代传递并降低后代患病风险。本文简要介绍目前常见的遗传性肿瘤及其特征，总结PGT技术在家族性腺瘤性息肉病、遗传性乳腺癌/卵巢癌综合征等常见遗传性肿瘤及罕见遗传性肿瘤生殖干预中的应用，探讨遗传性肿瘤PGT技术的发展和伦理问题，并对其未来发展方向进行展望。

Abstract

Hereditary tumors are essentially diseases caused by genetic material defects

and most of them exhibit Mendelian autosomal dominant inheritance. It not only endangers the health of patients

but also poses a serious threat to future generations. Preimplantation genetic testing (PGT) combined with

in vitro

fertilization and embryo transfer (IVF-ET) technology can dete

ct the chromosomes or specific genes of gametes or embryos

and finally select embryos without pathogenic mutations of hereditary tumor susceptibility genes to be implanted into the uterus

thereby blocking the offspring transmission of hereditary tumors and reducing their incidence. This article briefly introduced the common hereditary tumors and their characteristics at present

summarized the application of PGT technology in reproductive intervention of common hereditary tumors and rare hereditary tumors such as familial adenomatous polyposis

hereditary breast cancer/ovarian cancer syndrome

discussed the development and ethical issue of PGT technology for hereditary tumors

and looked forward to its future development direction.

关键词

Keywords

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