Henry Claire E, Phan Khoi, Orsman Elena J, Kenwright Diane, Thunders Michelle C, Filoche Sara K
Department of Obstetrics, Gynaecology and Women's Health, University of Otago, Wellington 6021, New Zealand.
Southern Community Laboratories, Wellington 6021, New Zealand.
Cancers (Basel). 2021 Nov 11;13(22):5641. doi: 10.3390/cancers13225641.
Aotearoa, New Zealand, has one of the fastest-rising rates of endometrial cancer (EC) worldwide, increasing particularly in younger Māori and Pasifika women. There is a move towards using molecular profiling to direct treatment for each EC subtype.
This study aimed to explore the molecular profiling of primary EC tissue in Aotearoa.
We used the PORTEC guidelines for the molecular subtyping of 90 patients' samples into four categories: -mutated, p53 abnormal, mismatch repair deficient (MMRd) and no specific molecular profile (NSMP). The mutation and L1CAM expression were also included in the analysis. and mutations were analysed using targeted next-generation sequencing (NGS). Novel mutations were assessed using VarSome. MMRd, L1CAM and p53 abnormalities were analysed using immunohistochemistry.
In total, 15 samples were MMRd, 9 were p53 abnormal, 8 were mutated and the rest (56) were NSMP. Eleven samples had exon 3 mutations and eleven novel mutations were described.
Surrogate markers for mutations should be investigated. The validation of variants and CTNNB1 mutations as part of an Aotearoa-based molecular panel is warranted.
新西兰奥塔哥地区是全球子宫内膜癌（EC）发病率上升最快的地区之一，在年轻的毛利族和太平洋岛裔女性中增长尤为明显。目前正朝着使用分子谱分析来指导每种EC亚型的治疗方向发展。
本研究旨在探索奥塔哥地区原发性EC组织的分子谱分析。
我们采用PORTEC指南将90例患者样本的分子亚型分为四类：-突变型、p53异常型、错配修复缺陷（MMRd）型和无特定分子谱（NSMP）型。分析还包括 突变和L1CAM表达。使用靶向二代测序（NGS）分析 和 突变。使用VarSome评估新突变。使用免疫组织化学分析MMRd、L1CAM和p53异常。
总共15个样本为MMRd型，9个为p53异常型，8个为突变型，其余（56个）为NSMP型。11个样本有外显子3 突变，并描述了11个新的 突变。
应研究 突变的替代标志物。有必要对作为基于奥塔哥地区分子检测一部分的 变体和CTNNB1突变进行验证。
