Abstract

Background

Pancreatic ductal adenocarcinoma (PDAC) is the major subtype of pancreatic cancer and head PDACs show distinct characteristics from body/tail PDACs. With limited studies based on Asian population, the mutational landscape of Asian PDAC remains unclear.

Methods

One hundred fifty-one Chinese patients with head PDAC were selected and underwent targeted 425-gene sequencing. Genomic alterations, tumor mutational burden, and microsatellite instability were analyzed and compared with a TCGA cohort.

Results

The genomic landscape of Chinese and Western head PDAC had identical frequently-mutated genes including KRAS, TP53, SMAD4, and CDKN2A. KRAS hotspot in both cohorts was codon 12 but Chinese PDACs containing more G12V but fewer G12R variants. Potentially pathogenic fusions, CHD2-BRAF and KANK1-MET were identified in two KRAS wild-type patients. Serum cancer antigens CA125 and CA19-9 were positively associated with SMAD4 alterations while high CEA was enriched in wild-type CDKN2A subgroup. The probability of vascular invasion was lower in patients with RNF43 alterations. The nomogram developed including histology grade, the mutation status of SMAD4, TGFBR2, and PREX2 could calculate the risk score of prognoses validated by Chinese and TCGA cohort.

Conclusions

Chinese head PDAC contained more KRAS G12V mutation than Western population. The well-performed nomogram may improve post-operation care in real-world practice.

Details

Title
The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification
Author
Yang, Yefan; Ding, Ying; Gong, Yuxi; Zhao, Sha; Li, Mingna; Li, Xiao; Song, Guoxin; Zhai, Boya; Liu, Jin; Shao, Yang; Zhu, Liuqing; Pang, Jiaohui; Ma, Yutong; Ou, Qiuxiang; Wu, Xue; Zhang, Zhihong
Pages
1-12
Section
Research
Publication year
2022
Publication date
2022
Publisher
BioMed Central
e-ISSN
14712407
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2630535808
Copyright
© 2022. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.