Abstract:
Objective: We explored the frequency of TP53 gene mutations in chorangiomas (CA) and chorangiomatosis (CM). Materials and -methods: By Sanger sequencing, we evaluated mutations in exons 4-6 of the TP53 gene in CM and CA regions of placentas. Results: In total, 7/11(63.6%) CAs and 24/26 (92.3%) CMs had TP53 mutations, with a significantly higher frequency in the latter. Mutations in both groups predominately involved exon 4, most commonly at the 119th C. The mutation types at the 119th C were C/G and G/G. Among the patients with exon 4 mutations at the 119th C, C/G mutations, the most common type, were observed more frequently in the CM group (63.16%, 12/19) than in the CA group (14.29%, 1/7), and the difference was significant. Conclusion: It is suggested that both CM and CA are tumors rather than tumor-like lesions. Although they are histologically similar, they have a different TP53 profile.
摘要:
目的:探讨TP53基因突变在脉络膜瘤(CA)和脉络膜瘤病(CM)中的发生频率。材料和方法:通过桑格测序,我们评估了胎盘CM和CA区TP53基因外显子4-6的突变.结果:总的来说,7/11(63.6%)CA和24/26(92.3%)CM有TP53突变,后者的频率明显更高。两组中的突变主要涉及外显子4,最常见于第119C。第119C的突变类型为C/G和G/G。在第119个C外显子4突变的患者中,C/G突变,最常见的类型,在CM组中观察到的频率更高(63.16%,12/19)比CA组(14.29%,1/7),差异显著。结论:CM和CA均为肿瘤,而不是肿瘤样病变。尽管它们在组织学上相似,他们有不同的TP53配置文件。