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。
