子宫内膜癌TCGA分子分型与治疗新进展

doi:10.12280/gjfckx.20240142

摘要/Abstract

摘要：

2013年美国癌症基因组图谱（The Cancer Genome Atlas，TCGA）完成了子宫内膜癌（endometrial carcinoma，EC）分子分型，将患者分为POLE（DNA polymerase epsilon）突变型、微卫星不稳定高突变（microsatellite instability-high，MSI-H）型、低拷贝数（copy number low，CN-L）型和高拷贝数（copy number high，CN-H）型，后西方学者改良为更贴合临床应用的ProMisE及Trans-PORTEC分型。POLE突变型患者预后较好，复发率较低，可合理减少患者手术范围，术后降级治疗，当患者合并MSI-H或CN-H时仍归为POLE突变型；MSI-H型患者肿瘤突变负荷高，免疫治疗临床获益显著；CN-L型患者最常见，预后仅次于POLE突变型患者，该类患者为保留生育功能行激素治疗缓解率较高；CN-H型患者预后最差，肿瘤具有侵袭性特征及高复发风险，对于该类患者术后需积极补充治疗，避免治疗不足，此外靶向治疗对CN-H患者疗效较好。TCGA分子分型突破了子宫内膜癌传统病理组织学分型评估预后的局限性，为子宫内膜癌的病理特征、预后及临床诊疗决策提供了全新见解。

关键词: 子宫内膜肿瘤, 分子分型, 预后, 精准治疗, 危险性评估, 肿瘤辅助疗法, 分子靶向治疗, 免疫疗法

Abstract:

In 2013, the Cancer Genome Atlas (TCGA) research center completed the molecular classification endometrial carcinoma (EC), categorizing patients into POLE (DNA polymerase epsilon) mutation type, microsatellite instability-high (MSI-H) type, copy number low (CN-L) type, and copy number high (CN-H) type. Subsequently Western scholars refined this into the ProMisE and Trans-PORTEC classification to better suit clinical applications. Patients with POLE mutation EC have excellent prognosis and lower recurrence rate, allowing for a reduction in surgical scope and a deescalation of treatment. Patients with MSI-H or CN-H are still POLE mutant. MSI-H type patients have a high burden of tumor mutations and significant benefits from immunotherapy. CN-L type patients are the most common, with a prognosis second only to POLE mutant patients. These patients have a higher response rate to hormone therapy to preserve fertility. CN-H type patients have the worst prognosis, with invasive features and a high risk of recurrence. For these patients, postoperative supplementary treatment is necessary to avoid inadequate treatment. However, there are some studies have shown that targeted therapy is more effective for CN-H type patients. The TCGA molecular typing of EC has overcome the limitations of traditional pathological and histological classification for evaluating prognosis, providing new insights into the pathological characteristics, prognosis, clinical diagnosis and treatment decisions of EC.

Key words: Endometrial neoplasms, Molecular typing, Prognosis, Precision therapy, Risk assessment, Neoadjuvant therapy, Molecular targeted therapy, Immunotherapy

吴晓莉, 刘开江. 子宫内膜癌TCGA分子分型与治疗新进展[J]. 国际妇产科学杂志, 2024, 51(3): 247-252.

WU Xiao-li, LIU Kai-jiang. The TCGA Molecular Classification and New Research Progress in the Treatment of Endometrial Carcinoma[J]. Journal of International Obstetrics and Gynecology, 2024, 51(3): 247-252.

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