鉴于宫颈腺癌和鳞状细胞癌之间临床和生物学特征的差异，本研究旨在进行探索性分析，以检查日本人群宫颈腺癌的分子特征。本研究使用下一代测序(NGS)技术，探索同时检测多个突变基因，包括BCAR4、CD274、PDCD1LG2、KRAS、ARID1A、PTEN、ALK、EGFR、ROS1、BRAF、PIK3CA、EP300、EBXW7、SHCBP1、TGFBR2、SMAD4、ERBB2、ERBB3和KLF5。该研究在原发治疗时收集了肿瘤组织和血液样本。从东海大学获得的49个样本与The Cancer Genome Atlas (TCGA)数据库中的133个样本的NGS分子图谱进行比较。研究队列中的腺癌比TCGA队列中的腺癌率高（44.9% vs. 18.0%；P = 0.001）。研究队列中的腺癌肿瘤在ROS1、EGFR、EP300、SHCBP1、ALK和PIK3CA上的突变比TCGA队列中的更多。其中，ROS1基因突变最多（中值为7.00±2.63）。在研究队列中，突变次数较多的ROS1患者复发率显著较高（5年复发率为48.8% vs. 14.6%；风险比[HR]为4.32；95%置信区间[CI]为1.20-15.50；P = 0.014），且总生存率低于突变次数较少的患者（5年总生存率为70.7% vs. 93.1%；HR为7.15；95% CI为1.08-58.22；P = 0.032）。本探索性分析表明，ROS1基因突变可能是日本患者宫颈腺癌的预后生物标志物。 版权所有©2023 Elsevier Inc.。保留所有权利。

Given the differences in clinical and biological characteristics between cervical adenocarcinoma and squamous cell carcinoma, this study aimed to conduct an exploratory analysis to examine the molecular characteristics of cervical adenocarcinoma in a Japanese population.This study explored the simultaneous testing of multiple mutations targeting cervical adenocarcinoma using next-generation sequencing (NGS). The following genes were analyzed: BCAR4, CD274, PDCD1LG2, KRAS, ARID1A, PTEN, ALK, EGFR, ROS1, BRAF, PIK3CA, EP300, EBXW7, SHCBP1, TGFBR2, SMAD4, ERBB2, ERBB3, and KLF5. Tumor tissue and blood samples were obtained at the time of primary treatment. The NGS-based molecular profiles obtained from Tokai University (49 specimens) were compared with the registered data in The Cancer Genome Atlas (TCGA) database (133 specimens).The study cohort had higher rates of adenocarcinoma than the TCGA cohort (44.9% vs. 18.0%; P = 0.001). The adenocarcinomas in the study cohort had more alterations in ROS1, EGFR, EP300, SHCBP1, ALK, and PIK3CA than those in the TCGA cohort. Among them, ROS1 had the highest number of gene alterations (median, 7.00 ± 2.63). In the study cohort, patients with a high number of ROS1 alterations had a significantly higher recurrence rate (5-year recurrence rate, 48.8% vs. 14.6%; hazard ratio [HR], 4.32; 95% confidence interval [CI], 1.20-15.50; P = 0.014) and lower overall survival than those with low alterations (5-year survival rate, 70.7% vs. 93.1%; HR, 7.15; 95% CI, 1.08-58.22; P = 0.032).The current exploratory analysis suggests that ROS1 gene alteration may be a prognostic biomarker in cervical adenocarcinoma in Japanese patients.Copyright © 2023 Elsevier Inc. All rights reserved.