PGT在遗传性肿瘤生殖干预中的应用进展

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。

Progress in the application of PGT in hereditary tumors

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 detect 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.