胃小凹型肿瘤是胃肿瘤的一种罕见的组织学变异。区分良性和恶性上皮内中心凹肿瘤（IFN）非常困难。尽管已在 IFN 中发现了有限的分子改变，但与肿瘤进展相关的体细胞拷贝数改变 (SCNA) 尚未在 IFN 中进行系统评估。本研究的目的是使用 SNP 阵列全面检查 37 个患者中的 SCNA。 IFN病例与肠型不典型增生相比，其中低度不典型增生（LGD）39例，高度不典型增生（HGD）32例。此外，使用基因组评估基因突变。最后，我们尝试使用层次聚类分析来确定分子谱。根据检查的 108 个肿瘤中的 SCNA，可以对两种模式进行分类：SCNA 频率高（亚组 1）和低频率（亚组 2）。尽管 IFN 和 LGD 与亚组 2 相关，但两个亚组中均发现了 HGD。 IFN 或 HGD 组的总 SCNA 数和拷贝数增益的中位数高于 LGD 组。此外，IFN基因型的特征是位于4p13-4q35.2的基因发生改变，包括RAP1GDS1和LEF1，这可能与IFN的发育有关。最后，使用基因组未在 IFN 中发现显着突变。目前 IFN 的分子谱可能有助于阐明 IFN 发育的机制。© 2024。作者。

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.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.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.The current molecular profiles of IFN may help elucidate the mechanisms of IFN development.© 2024. The Author(s).