Integrated molecular characterization reveals the pathogenesis and therapeutic strategies of pulmonary blastoma.

ABSTRACT:

Background

Pulmonary blastoma (PB) is a rare subtype of lung cancer. Currently, the underlying pathogenesis mechanisms of PB have not been fully illustrated, and the therapeutic approach for this entity is limited.

Methods

Whole-exome sequencing (WES), RNA sequencing, and DNA methylation profiling are applied to seven PB patients. Multi-omics data of pulmonary sarcomatoid carcinoma (PSC) and pituitary blastoma (PitB) from previous studies are invoked to illuminate the associations among PB and these malignacies.

Results

We portray the genomic alteration spectrum of PB and find that DICER1 is with the highest alteration rate (86 %). We uncover that DICER1 alterations, Wnt signaling pathway dysregulation and IGF2 imprinting dysregulation are the potential

SUBMITTER: Tian H 

PROVIDER: S-EPMC11873630 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature