十二指肠上皮肿瘤的综合基因组图谱和临床病理特征的真实世界数据
Real-World Data of Comprehensive Genomic Profiles and Clinicopathological Characteristics of Duodenal Epithelial Neoplasms.
摘要(中文译文)
背景：十二指肠上皮肿瘤较为罕见；然而，随着监测性内镜的广泛使用以及内镜成像技术的进步，其偶然检出率有所增加。由于其罕见性，十二指肠上皮肿瘤的临床病理特征和自然病程尚未得到充分研究。本研究旨在阐明十二指肠上皮肿瘤的基因组图谱和临床病理特征。方法：共纳入158例十二指肠上皮肿瘤患者。进行了全面基因组分析和免疫组化染色。免疫表型分为胃型（G型）、胃肠型（GI型）或肠型（I型）。评估潜在可操作基因组改变的检出率和高肿瘤突变负荷（TMB-H ≥ 10 Muts/Mb），并在不同肿瘤类型之间进行比较。结果：腺癌的中位大小大于腺瘤（= 0.002）。G型肿瘤的诊断年龄高于其他两种肿瘤类型（< 0.001）。I型肿瘤的中位大小小于其他两种肿瘤类型（= 0.019）。与其他两种类型相比，G型肿瘤主要位于上部区域（< 0.001），为宏观I型（= 0.002），并且（< 0.001）、（< 0.001）、（= 0.004）和（< 0.001）的基因组改变率显著更高。18例患者显示TMB-H。结论：在超过10%的十二指肠肿瘤中观察到TMB-H。此外，G型十二指肠肿瘤的发病机制与其他免疫表型肿瘤不同。这些发现有助于理解十二指肠肿瘤的基因组图谱并选择治疗方案。
Abstract
: Duodenal epithelial neoplasms are rare; however, the widespread use of surveillance endoscopy and advances in endoscopic imaging technology have increased their incidental detection. Owing to their rarity, the clinicopathological characteristics and natural course of duodenal epithelial neoplasms have not been thoroughly investigated. In this study, we aimed to clarify the genomic profile and clinicopathological characteristics of duodenal epithelial neoplasms. : A total of 158 patients with duodenal epithelial neoplasms were enrolled. Comprehensive genomic profiling and immunohistochemical staining were performed. Immunophenotypes were categorized as gastric type (G-type), gastrointestinal type (GI-type), or intestinal type (I-type). The detection rate of potentially actionable genomic alterations and a high tumor mutational burden (TMB-H ≥ 10 Muts/Mb) were evaluated and compared across tumor types. : The median size of adenocarcinomas was larger than that of adenomas ( = 0.002). The age at diagnosis of G-type tumors was higher than that for the other two tumor types ( < 0.001). The median size of I-type tumors was smaller than that of the other two tumor types ( = 0.019). Compared with the other two types, G-type tumors were predominantly located in the superior region ( < 0.001), were macroscopic Type I ( = 0.002), and had significantly higher genomic alteration rates for ( < 0.001), ( < 0.001), ( = 0.004), and ( < 0.001). Eighteen patients showed TMB-H. : TMB-H was observed in >10% duodenal tumors. Additionally, the pathogenesis of G-type duodenal tumors differs from that of other immunophenotypic tumors. These findings could help in understanding the genomic profiles of duodenal tumors and in selecting treatment options.
如何引用
AMA
Marin Ishikawa, Hideyuki Hayashi, Kohei Nakamura, Ryutaro Kawano, Eriko Aimono, Hiroshi Nishihara. Real-World Data of Comprehensive Genomic Profiles and Clinicopathological Characteristics of Duodenal Epithelial Neoplasms.. Cancers. 2026; doi:10.3390/cancers18132097.
APA
Marin Ishikawa, Hideyuki Hayashi, Kohei Nakamura, Ryutaro Kawano, Eriko Aimono, Hiroshi Nishihara (2026). Real-World Data of Comprehensive Genomic Profiles and Clinicopathological Characteristics of Duodenal Epithelial Neoplasms.. Cancers. https://doi.org/10.3390/cancers18132097
GB/T 7714
Marin Ishikawa, Hideyuki Hayashi, Kohei Nakamura, Ryutaro Kawano, Eriko Aimono, Hiroshi Nishihara. Real-World Data of Comprehensive Genomic Profiles and Clinicopathological Characteristics of Duodenal Epithelial Neoplasms.[J]. Cancers, 2026 doi:10.3390/cancers18132097.
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