AI Article Synopsis
- Malignant biphasic tumors of the lungs are uncommon, particularly in children, and this study focuses on unique cases involving pleuropulmonary blastoma Type III and an unclassified thoracic neoplasm.
- The pleuropulmonary blastoma was found to have significant DICER1 mutations and other gene variants, while the unclassified tumor exhibited a specific genetic translocation leading to a YAP1::LEUTX fusion, which has associations with cancer development.
- This research emphasizes the value of whole-genome analysis in identifying the biological characteristics and potential treatment targets for rare tumors.
Article Abstract
Malignant biphasic tumors of the lungs are rare, more so in the pediatric population. Here, we present the whole-genome characterization of a pleuropulmonary blastoma Type III and an unclassified biphasic thoracic embryonal neoplasm. The pleuropulmonary blastoma harbored pathogenic DICER1 germline and somatic mutations, and additional somatic variants in TP53 and BCOR. The other malignant tumor demonstrated a t(11;19) balanced translocation with a YAP1::LEUTX fusion that was confirmed by fluorescence in situ hybridization. No DICER1 germline or somatic mutation was present. YAP1 and LEUTX have been implicated in tumorigenesis of various neoplasms, and YAP1 fusion genes are an emerging oncogenic entity in a variety of malignancies. In this study we highlight the importance of whole-genome characterization of rare and unclassified tumors to identify biologic mechanisms and potential therapeutic targets.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.prp.2024.155726 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!