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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
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Genetic mutations in lung enteric adenocarcinoma identified using next-generation sequencing
Li Lin1, Wu Zhuang2, Wenxian Wang3
1Department of Oncology, Peking University International Hospital Beijing 102206, People's Republic of China.
International Journal of Clinical and Experimental Pathology
|January 23, 2020
Summary
Primary lung enteric adenocarcinoma, a rare cancer, shows frequent ALK/ROS1 and MSH2/MSH6 mutations. Genetic profiling via next-generation sequencing (NGS) revealed these key findings in patients with this lung carcinoma.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Primary lung enteric adenocarcinoma is a rare invasive lung carcinoma.
- It shares morphological and immunohistochemical similarities with metastatic colorectal carcinoma.
- No associated primary colorectal carcinoma is found in these cases.
Purpose of the Study:
- To identify mutations in lung enteric adenocarcinoma using next-generation sequencing (NGS).
- To assess the genetic profile of this rare lung carcinoma.
- To understand the genetic heterogeneity and potential therapeutic targets.
Main Methods:
- Next-generation sequencing (NGS) was performed on 11 lung enteric adenocarcinoma patients.
- Immunohistochemical analysis was used for differential marker identification.
- Genetic profiles were analyzed to identify specific mutations.
Main Results:
- NGS identified ALK/ROS1 primary point mutations in 71.42% (5/7) of evaluable patients.
- MSH2/MSH6 primary point mutations were found in 42.86% (3/7) of evaluable patients.
- No EGFR, ALK/ROS1/RET rearrangements, MET amplification, or 14 exon skipping mutations were observed. Genetic heterogeneity was noted.
Conclusions:
- ALK/ROS1 and MSH2/MSH6 mutations are frequent in lung enteric adenocarcinoma.
- These findings highlight genetic heterogeneity within this rare lung carcinoma.
- Further research with larger cohorts is necessary to validate these preliminary genetic findings.
