| Title | Whole genome profiling of rare pediatric thoracic tumors elucidates a YAP1::LEUTX fusion in an unclassified biphasic embryonal neoplasm. |
| Publication Type | Journal Article |
| Year of Publication | 2024 |
| Authors | Lukose G, Assaad MAl, Driskill JH, Levine MF, Gundem G, Semaan A, Wilkes DC, Spigland NA, Medina-Martínez JS, Sboner A, Elemento O, Jessurun J, Mosquera JMiguel |
| Journal | Pathol Res Pract |
| Volume | 264 |
| Pagination | 155726 |
| Date Published | 2024 Dec |
| ISSN | 1618-0631 |
| Keywords | Adaptor Proteins, Signal Transducing, Child, DEAD-box RNA Helicases, Female, Humans, Lung Neoplasms, Male, Neoplasms, Germ Cell and Embryonal, Oncogene Proteins, Fusion, Pulmonary Blastoma, Ribonuclease III, Transcription Factors, YAP-Signaling Proteins |
| 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. |
| DOI | 10.1016/j.prp.2024.155726 |
| Alternate Journal | Pathol Res Pract |
| PubMed ID | 39566337 |