NSMP亚型子宫内膜癌相关研究的最新进展及展望:从分子生物学研究到临床诊治实践OA
The advances and prospects of NSMP subtype of endometrial cancer:from molecular biology to clinical diagnosis and treatment
子宫内膜癌基于分子特征分为 4 种亚型,包括 POLE 超突变(polymerase-epsilon mutated,POLEmut)、微卫星高度不稳定(microsatellite instability-high,MSI-H)/错配修复缺陷(mismatch repair deficiency,MMRd)、无特定分子特征(no specific molecular profile,NSMP)和 TP53 异常(p53 abnormal,p53abn)亚型,其中NSMP亚型占所有子宫内膜癌病例大约一半,缺乏特征性分子标志物,预后中等,且个体间存在较大的异质性,需进一步研究.近年来,随着分子检测技术的普及和提高,雌激素受体(estrogen receptor,ER)/孕激素受体(progesterone receptor,PR)、10号染色体上缺失的磷酸酶和张力蛋白同源物基因(phosphatase and tensin homolog deleted on chromosome ten,PTEN)/磷脂酰肌醇4,5-二磷酸3-激酶催化亚基α(phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha,PIK3CA)/磷脂酰肌醇-3-激酶调节亚基1(phosphoinositide-3-kinase regulatory subunit 1,PIK3R1)、染色体1q、富含AT相互作用结构域蛋白1A(AT-rich interactive domain-containing protein 1A,ARID1A)、β-连环蛋白(catenin beta 1,CTNNB1)以及L1细胞黏附分子(L1 cell adhesion molecule,L1CAM)与NSMP亚型患者预后的相关研究不断涌现,同时基于分子特征的靶向治疗研究层出不穷.此外,随着单细胞RNA测序和空间转录组学等技术的发展,NSMP亚型的特定肿瘤微环境和免疫治疗方案也在积极探索中.因此本综述旨在概括和总结NSMP亚型子宫内膜癌潜在的分子特征、肿瘤微环境及其治疗的研究进展.
Endometrial cancer is classified into four subtypes based on molecular characteristics,including polymerase-epsilon-mutated(POLEmut),microsatellite instability-high(MSI-H)/mismatch repair deficient(MMRd),no specific molecular profile(NSMP)and p53 abnormal(p53abn).NSMP subtype,which accounts for approximately half of all primary endometrial cancers and lacks characteristic molecular markers,has a moderate prognosis,and exhibits significant interindividual heterogeneity.Therefore,further research on NSMP endometrial cancer is necessary.In recent years,with the widespread application and advancement in accuracy of molecular detection technologies,studies on estrogen receptor(ER)/progesterone receptor(PR),phosphatase and tensin homolog deleted on chromosome ten(PTEN)/phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha(PIK3CA)/phosphoinositide-3-kinase regulatory subunit 1(PIK3R1),chromosome 1q,AT-rich interactive domain-containing protein 1A(ARID1A),catenin beta 1(CTNNB1)and L1 cell adhesion molecule(L1CAM)in the NSMP subtype have been published,and targeted therapies based on molecular characteristics have emerged.Additionally,due to the development of single-cell RNA sequencing and spatial transcriptomics,the specific tumor microenvironment and immunotherapy of the NSMP subtype are also being actively explored.Therefore,this review aimed to outline and summarize the potential molecular characteristics of NSMP subtype,tumor microenvironment and recent therapeutic progress.
袁心慧;任玉兰
复旦大学附属肿瘤医院肿瘤妇科,复旦大学上海医学院肿瘤学系,上海 200032复旦大学附属肿瘤医院肿瘤妇科,复旦大学上海医学院肿瘤学系,上海 200032
医药卫生
子宫内膜癌NSMP分子特征肿瘤微环境治疗
Endometrial cancerNSMPMolecular characteristicsTumor microenvironmentTherapy
《中国癌症杂志》 2026 (8)
743-754,12
评论