Center for Reproductive Medicine, Villa Mafalda, 00199 Rome, Italy.
Faculty of Biosciences and Agro-Food and Environmental Technologies, University of Teramo, 64100 Teramo, Italy.
Int J Mol Sci. 2023 Nov 9;24(22):16114. doi: 10.3390/ijms242216114.
Lynch syndrome is one of the most common hereditary cancer sensitivity syndromes and is caused by autosomal-dominant germline mutations in DNA mismatch repair genes. In patients affected by this syndrome, pre-implantation genetic testing for monogenic disorders (PGT-M) could be the elective technique used to prevent the transmission of this hereditary syndrome to offspring. Notably, despite the severity of the condition, some authors have observed a markedly lower demand for PGT-M in these patients compared to those with other hereditary conditions. A 34-year-old woman with a medical history of Lynch syndrome associated with endometrial cancer came to the Villa Mafalda fertility center in Rome in order to conceive a healthy baby. In a pre-implantation genetic testing for aneuploidy (PGT-A) + PGT-M cycle, eight blastocysts were formed. Six out of eight blastocysts were affected by the same mother syndrome. One of the other two was aneuploid and the other one was a mosaic embryo, which resulted in a healthy pregnancy. The aim of this report is to emphasize the importance of a multidisciplinary approach to managing patients with this condition. In vitro fertilization (IVF), specifically PGT-M, is a tool that allow patients to conceive biological children with lower risk of inheriting the disease.
林奇综合征是最常见的遗传性癌症敏感综合征之一，由 DNA 错配修复基因的常染色体显性种系突变引起。在受这种综合征影响的患者中，单基因疾病的胚胎植入前遗传学检测（PGT-M）可能是预防这种遗传性综合征遗传给后代的首选技术。值得注意的是，尽管这种情况很严重，但一些作者观察到，与其他遗传性疾病相比，这些患者对 PGT-M 的需求明显较低。一位 34 岁的妇女，有林奇综合征相关子宫内膜癌的病史，来到罗马的 Villa Mafalda 生育中心，以怀上健康的宝宝。在胚胎植入前非整倍体（PGT-A）+PGT-M 周期中，形成了 8 个囊胚。8 个囊胚中有 6 个受到相同的母系综合征的影响。另外两个囊胚中有一个是染色体非整倍体，另一个是嵌合体胚胎，结果是一次健康的妊娠。本报告的目的是强调对患有这种疾病的患者进行多学科管理的重要性。体外受精（IVF），特别是 PGT-M，是一种工具，可以让患者怀上携带疾病风险较低的生物学后代。
