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Updated: Sep 27, 2025
Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
Gene Expression and Mutational Landscape in a PMEC Patient With Low to Intermediate-High Grade Transition
Weijie Dong1, Bing Zhu2, Yan You3
1Department of Respiratory and Critical Care Medicine, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Abstract:
Primary pulmonary mucoepidermoid carcinoma (PMEC) is a very rare form of lung carcinoma. Due to the low incidence, little is known about its inherent genetic variation characteristics. The uniform treatment for PMEC has not been determined. In this case, we present a 45-year-old male with stage IA PMEC. The surgical specimens contained changes from low- to intermediate-to-high grade. We performed integrative analysis of whole-exome sequencing (WES-seq) and messenger ribonucleic acid sequencing (RNA-seq) to compare the molecular changes in the different lesions. Molecular testing exhibits the specimens harboring CRTC3-MAML2 fusion. The copy number gain of PDPK1 is only present in high-grade regional specimens. We also explored the level of immune infiltration by CIBERSORT. To our knowledge, this is the first report to describe a case of PMEC in the low- to intermediate-high-grade transition with multiomics analysis.
Insights
This study details a rare lung cancer, primary pulmonary mucoepidermoid carcinoma (PMEC), in a 45-year-old male. Molecular analysis revealed a CRTC3-MAML2 fusion and copy number gain in PDPK1, offering insights into PMEC
Area of Science:
- Oncology
- Genomics
- Translational Research
Background:
- Primary pulmonary mucoepidermoid carcinoma (PMEC) is an exceptionally rare lung malignancy with limited understanding of its genetic landscape.
- Standardized treatment protocols for PMEC are not yet established, highlighting the need for molecular characterization.
- The progression of PMEC from low- to high-grade necessitates detailed investigation into its underlying molecular alterations.
Purpose of the Study:
- To conduct an in-depth molecular analysis of a primary pulmonary mucoepidermoid carcinoma (PMEC) case exhibiting low- to intermediate- to high-grade transition.
- To identify key genetic variations and molecular changes associated with PMEC progression using multiomics approaches.
- To explore the tumor immune microenvironment in relation to varying grades of PMEC.
Main Methods:
- Integrative analysis of whole-exome sequencing (WES-seq) and messenger ribonucleic acid sequencing (RNA-seq) on surgical specimens.
- Comparative molecular profiling of distinct tumor regions representing different grades of PMEC.
- Assessment of immune cell infiltration using CIBERSORT deconvolution.
Main Results:
- Identification of the CRTC3-MAML2 fusion gene in the PMEC specimens.
- Detection of a copy number gain in PDPK1 exclusively in high-grade tumor regions.
- Characterization of immune cell composition across different PMEC grades.
Conclusions:
- This case report presents the first multiomics analysis of a primary pulmonary mucoepidermoid carcinoma (PMEC) with low- to high-grade transition.
- The findings highlight the CRTC3-MAML2 fusion and PDPK1 copy number gain as potential drivers in PMEC progression.
- Further research into these molecular alterations and their impact on the tumor immune microenvironment is warranted for therapeutic development.
