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Updated: Aug 28, 2025
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Next generation sequencing targeted detection of somatic mutations in patients with mucinous adenocarcinoma of the
Dan Jian1, Xianfeng Lu1, Dong Wang1
1Department of Oncology, Daping Hospital, Army Medical University, Chongqing 400042, China.
Abstract:
The aim of this study was to investigate the mutations in mucinous adenocarcinoma of the appendix (MAA). SNV was detected in 15 patients with MAA, Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) and reactome pathway analyses were performed. Tumor mutational burden (TMB), mutant-allele tumor heterogeneity (MATH), microsatellite instability (MSI) was analysis. Finally, the human leukocyte antigen (HLA) typing of the samples was detected. The results showed that TP53 (27 %) and KRAS (20 %) were the highest mutation frequency in the sample, mainly occur in p53 pathway and RTK-RAS pathway. GO analysis reveals mutated genes are closely related to the regulation of GTPase activity, regulation of small GTPase mediated signal transduction and other BP, related to the CC and MF. Analysis of KEGG pathways indicated that the top canonical pathways associated with SNV was Wnt signaling pathway. Reactome pathway analysis further revealed that the mutant genes were closely related to muscle contraction. Only one patient had moderate TMB level and one patient with high MSI. In conclusion, the most common mutated genes and the signaling pathways closely related to MAA development were detected in this study, which will contribute to the development of immunotherapy for patients with MAA.
Insights
This study identified frequent mutations in TP53 and KRAS genes in mucinous adenocarcinoma of the appendix (MAA). These findings highlight key pathways involved in MAA development and offer insights for future immunotherapy strategies.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Mucinous adenocarcinoma of the appendix (MAA) is a rare gastrointestinal malignancy.
- Understanding the genetic landscape of MAA is crucial for developing targeted therapies.
Purpose of the Study:
- To investigate the spectrum of somatic single nucleotide variants (SNVs) in MAA.
- To identify frequently mutated genes and associated signaling pathways in MAA.
- To analyze tumor mutational burden (TMB), mutant-allele tumor heterogeneity (MATH), and microsatellite instability (MSI) in MAA.
Main Methods:
- Whole-exome sequencing was performed on 15 MAA samples.
- Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), and Reactome pathway analyses were conducted.
- TMB, MATH, and MSI were analyzed, along with human leukocyte antigen (HLA) typing.
Main Results:
- TP53 (27%) and KRAS (20%) showed the highest mutation frequencies, primarily in the p53 and RTK-RAS pathways.
- GO analysis indicated involvement in GTPase activity regulation and signal transduction.
- KEGG analysis highlighted the Wnt signaling pathway, and Reactome analysis pointed to muscle contraction pathways.
Conclusions:
- This study elucidates the common genetic alterations and key signaling pathways implicated in MAA pathogenesis.
- The identified mutations and pathways provide a foundation for developing novel immunotherapeutic approaches for MAA patients.
