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.
Keywords
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Article info
Publication history
Published online: December 24, 2021
Accepted:
December 2,
2021
Received:
July 1,
2021
Identification
Copyright
© 2021 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
