非壶腹十二指肠上皮性肿瘤的基因突变与临床病理特征的关系。

Relationship between gene mutations and clinicopathological features in nonampullary duodenal epithelial tumors.

机构信息

Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, 1-Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya 467-8601, Japan.

出版信息

Dig Liver Dis. 2022 Jul;54(7):905-910. doi: 10.1016/j.dld.2021.12.004. Epub 2021 Dec 24.

DOI:10.1016/j.dld.2021.12.004

PMID:34961702

Abstract

BACKGROUND

Molecular features of nonampullary duodenal epithelial tumors (NADETs) remain unclear.

AIM

The aim of this study is to determine the association between the genetic features and clinicopathological findings of NADETs.

METHODS

In total, 75 NADETs were enrolled in this study, and was performed targeted DNA sequencing of the GNAS, KRAS, TP53, and APC genes. Histological grade was classified as category 3 or category 4/5 according to the Vienna classification, and the immunophenotype was categorized as the gastric phenotype (G type), gastrointestinal phenotype (GI type), or the intestinal phenotype (I type).

RESULTS

The prevalence of GNAS and KRAS mutations was significantly higher in the G type than in the GI/I type (GNAS, P = 0.027; KRAS, P = 0.005). In contrast, the frequency of TP53 mutations was significantly higher in the GI/I type than in the G type (P = 0.049). Notably, APC mutations, excluding c.4479 G>A which was synonymous mutation, were more frequently identified in category 4/5 tumors than in category 3 tumors (50% vs. 24.5%; P = 0.039).

CONCLUSION

G-type NADETs harbored frequent GNAS and KRAS mutations, whereas TP53 mutations are common in NADETs with intestinal features. APC mutations were significantly associated with high-grade neoplasia and invasive carcinoma.

摘要

背景

非壶腹十二指肠上皮性肿瘤（NADETs）的分子特征尚不清楚。

目的

本研究旨在确定 NADETs 的遗传特征与临床病理发现之间的关联。

方法

本研究共纳入 75 例 NADETs，对 GNAS、KRAS、TP53 和 APC 基因进行了靶向 DNA 测序。根据维也纳分类法，将组织学分级分为 3 级或 4/5 级，免疫表型分为胃型（G 型）、胃肠型（GI 型）或肠型（I 型）。

结果

G 型的 GNAS 和 KRAS 突变率明显高于 GI/I 型（GNAS，P=0.027；KRAS，P=0.005）。相反，GI/I 型的 TP53 突变率明显高于 G 型（P=0.049）。值得注意的是，除同义突变 c.4479 G>A 外，APC 突变在 4/5 级肿瘤中比在 3 级肿瘤中更常见（50% vs. 24.5%；P=0.039）。