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浅表非壶腹十二指肠上皮肿瘤的临床病理及遗传学特征

Clinicopathological and Genetic Features in Superficial Nonampullary Duodenal Epithelial Tumors.

作者信息

Sawada Atsushi, Hirasawa Kingo, Sugimori Makoto, Ozeki Yuichiro, Ikeda Ryosuke, Nishio Masafumi, Fukuchi Takehide, Kobayashi Ryosuke, Kaneko Hiroaki, Sato Chiko, Inayama Yoshiaki, Kunisaki Chikara, Maeda Shin

机构信息

Division of Endoscopy, Yokohama City University Medical Center, Yokohama, Kanagawa, Japan.

Department of Cancer Genome Medicine, Yokohama City University Medical Center, Yokohama, Kanagawa, Japan.

出版信息

Gastroenterol Res Pract. 2025 May 27;2025:1063863. doi: 10.1155/grp/1063863. eCollection 2025.

Abstract

Superficial nonampullary duodenal epithelial tumors (SNADETs) that are pathologically classified as gastric-type might manifest a more aggressive behavior than the intestinal type. However, the details of their histologic and genetic features remain unclear because of their rarity. This study was aimed at identifying clinicopathological findings and early genomic events in gastric-type SNADETs treated with endoscopic resection. We retrospectively analyzed 204 patients with SNADETs between January 2011 and September 2020. Immunohistochemical analysis for -catenin and targeted exome sequence analysis of 50 cancer-related genes using next-generation sequencing were performed for the representative cases. Among the 204 SNADETs cases, only nine (4.4%) were gastric type; the remaining 195 cases were intestinal type. Among the gastric-type tumors, seven were adenomas and two were adenocarcinomas, whereas only three of the 195 intestinal-type tumors were adenocarcinomas. Nuclear expression of -catenin was observed in three of the nine (33%) gastric-type tumors and in eight of the 10 (80%) intestinal-type tumors. The most prevalent abnormality among the 50 genes tested in gastric-type tumors was mutation (89%), whereas that in intestinal-type tumors was mutation (67%). All gastric-type adenocarcinomas had mutations as well as adenomas, while mutations were absent in intestinal-type adenocarcinomas and present in most adenomas. mutations are more common in gastric-type SNADETs than in the intestinal type. As mutations are continuously present from adenoma to adenocarcinoma, resection at the adenoma stage is desirable.

摘要

病理分类为胃型的浅表非壶腹十二指肠上皮肿瘤(SNADETs)可能比肠型表现出更具侵袭性的行为。然而,由于其罕见性,它们的组织学和遗传学特征细节仍不清楚。本研究旨在确定接受内镜切除治疗的胃型SNADETs的临床病理特征和早期基因组事件。我们回顾性分析了2011年1月至2020年9月期间的204例SNADETs患者。对代表性病例进行了β-连环蛋白的免疫组织化学分析和使用下一代测序对50个癌症相关基因进行靶向外显子序列分析。在204例SNADETs病例中,只有9例(4.4%)为胃型;其余195例为肠型。在胃型肿瘤中,7例为腺瘤,2例为腺癌,而195例肠型肿瘤中只有3例为腺癌。在9例胃型肿瘤中有3例(33%)观察到β-连环蛋白的核表达,在10例肠型肿瘤中有8例(80%)观察到。在胃型肿瘤中检测的50个基因中最常见的异常是KRAS突变(89%),而在肠型肿瘤中是NRAS突变(67%)。所有胃型腺癌以及腺瘤都有KRAS突变,而肠型腺癌中不存在KRAS突变,大多数腺瘤中存在。KRAS突变在胃型SNADETs中比在肠型中更常见。由于KRAS突变从腺瘤到腺癌持续存在,在腺瘤阶段进行切除是可取的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/680d/12133369/92ab59051a3d/GRP2025-1063863.001.jpg

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