Gene Expression and Mutational Landscape in a PMEC Patient With Low to Intermediate-High Grade Transition.

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.

SUBMITTER: Dong W 

PROVIDER: S-EPMC8980482 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature