The molecular profile of gastric intraepithelial foveolar type neoplasia based on somatic copy number alterations and multiple mutation analysis.

IF 6 1区医学 Q1 GASTROENTEROLOGY & HEPATOLOGY Gastric Cancer Pub Date : 2024-11-01 Epub Date: 2024-08-12 DOI:10.1007/s10120-024-01543-0

Tamotsu Sugai, Noriyuki Uesugi, Mitsumasa Osakabe, Ryuya Yamamoto, Koichi Hamada, Michitaka Honda, Naoki Yanagawa, Hiromu Suzuki

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Abstract

Background: Gastric foveolar type neoplasia is a rare histological variant of gastric tumors. It is very difficult to differentiate between benign and malignant intraepithelial foveolar neoplasia (IFN). Although limited molecular alterations have been identified in IFNs, somatic copy number alterations (SCNAs), which are linked to tumor progression, have not been systematically evaluated in IFN.

Methods: The aim of the present study was to comprehensively examine SCNAs using a SNP array in 37 cases of IFN, compared with intestinal type dysplasia, including 39 low grade (LGD) and 32 high grade dysplasia (HGD) cases. In addition, gene mutations were evaluated using a gene panel. Finally, we attempted to determine molecular profiles using a hierarchical clustering analysis.

Results: Two patterns could be categorized according to the SCNAs in 108 tumors examined: high (subgroup 1) and low (subgroup 2) frequencies of SCNAs. Although IFN and LGD were associated with subgroup 2, HGD was found in both subgroups. The median numbers of total SCNAs and copy number gains were higher in IFN or HGD than in LGD. In addition, the IFN genotype was characterized by altered genes located at 4p13-4q35.2, including RAP1GDS1 and LEF1, which may be associated with IFN development. Finally, no significant mutations were found in IFNs using a gene panel.

Conclusions: The current molecular profiles of IFN may help elucidate the mechanisms of IFN development.

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基于体细胞拷贝数改变和多重突变分析的胃上皮内窝窝型肿瘤的分子谱。

背景：胃窝状瘤是一种罕见的胃肿瘤组织学变异。良性和恶性上皮内窝状肿瘤（IFN）很难区分。虽然在 IFN 中发现了有限的分子改变，但尚未对 IFN 中与肿瘤进展相关的体细胞拷贝数改变（SCNA）进行系统评估：本研究的目的是利用 SNP 阵列全面检测 37 例 IFN 与肠型发育不良的 SCNAs，包括 39 例低度发育不良（LGD）和 32 例高度发育不良（HGD）。此外，我们还使用基因面板对基因突变进行了评估。最后，我们尝试使用层次聚类分析确定分子特征：根据 108 例肿瘤中的 SCNAs 可分为两种模式：SCNAs 频率高（亚组 1）和低（亚组 2）。虽然IFN和LGD与亚组2有关，但两个亚组中都发现了HGD。IFN 或 HGD 中 SCNAs 总数和拷贝数增殖的中位数均高于 LGD。此外，IFN 基因型的特点是位于 4p13-4q35.2 的基因发生了改变，包括 RAP1GDS1 和 LEF1，这可能与 IFN 的发展有关。最后，使用基因面板在 IFN 中没有发现明显的突变：目前的 IFN 分子图谱可能有助于阐明 IFN 的发育机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Gastric Cancer 医学-胃肠肝病学

CiteScore

14.70

自引率

2.70%

发文量

审稿时长

6-12 weeks

期刊介绍： Gastric Cancer is an esteemed global forum that focuses on various aspects of gastric cancer research, treatment, and biology worldwide. The journal promotes a diverse range of content, including original articles, case reports, short communications, and technical notes. It also welcomes Letters to the Editor discussing published articles or sharing viewpoints on gastric cancer topics. Review articles are predominantly sought after by the Editor, ensuring comprehensive coverage of the field. With a dedicated and knowledgeable editorial team, the journal is committed to providing exceptional support and ensuring high levels of author satisfaction. In fact, over 90% of published authors have expressed their intent to publish again in our esteemed journal.