<?xml version='1.0' encoding='UTF-8'?><xml><records><record><source-app name="HighWire" version="7.x">Drupal-HighWire</source-app><ref-type name="Journal Article">17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">PANAGOPOULOS, IOANNIS</style></author><author><style face="normal" font="default" size="100%">ANDERSEN, KRISTIN</style></author><author><style face="normal" font="default" size="100%">GORUNOVA, LUDMILA</style></author><author><style face="normal" font="default" size="100%">LOBMAIER, INGVILD</style></author></authors><secondary-authors></secondary-authors></contributors><titles><title><style face="normal" font="default" size="100%">Fusion of Platelet Derived Growth Factor Receptor Alpha (&lt;em&gt;PDGFRA&lt;/em&gt;) With Ubiquitin Specific Peptidase 8 (&lt;em&gt;USP8&lt;/em&gt;) in a Calcified Chondroid Mesenchymal Neoplasm Harboring t(4;15)(q12;q21) as a Sole Aberration</style></title><secondary-title><style face="normal" font="default" size="100%">Cancer Genomics - Proteomics</style></secondary-title></titles><dates><year><style  face="normal" font="default" size="100%">2024</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2024-05-01 00:00:00</style></date></pub-dates></dates><pages><style  face="normal" font="default" size="100%">252-259</style></pages><doi><style  face="normal" font="default" size="100%">10.21873/cgp.20444</style></doi><volume><style face="normal" font="default" size="100%">21</style></volume><issue><style face="normal" font="default" size="100%">3</style></issue><abstract><style  face="normal" font="default" size="100%">Background/Aim: The term “calcified chondroid mesenchymal neoplasm” was introduced in 2021 to describe a group of tumors characterized by various morphological features, including the formation of cartilage or chondroid matrix. These tumors frequently carry chimeric genes where the 5′-end partner gene is fibronectin 1 and the 3′-end partner gene codes for receptor tyrosine kinase. Our study explores fusion of the genes platelet-derived growth factor receptor alpha (PDGFRA) and ubiquitin-specific peptidase 8 (USP8) in calcified chondroid mesenchymal neoplasm. Case Report: Genetic investigations were conducted on a tumor located in the leg of a 71-year-old woman. G-banding analysis of short-term cultured tumor cells revealed the karyotype 46,XX,t(4;15)(q12;q21)[6]/46,XX[4]. RNA sequencing detected in-frame PDGFRA::USP8 and USP8::PDGFRA chimeric transcripts, which were validated by RT-PCR/Sanger sequencing. The PDGFRA::USP8 chimeric protein is predicted to have cell membrane location and functions as a chimeric ubiquitinyl hydrolase. The USP8::PDGFRA protein was predicted to be nuclear and function as a positive regulator of cellular metabolic process. Conclusion: We report, for the first time, a calcified chondroid mesenchymal neoplasm carrying a balanced t(4;15)(q12;q21) chromosomal translocation, resulting in the generation of both PDGFRA::USP8 and USP8::PDGFRA chimeras. The PDGFRA::USP8 protein is located on the cell membrane and functions as a chimeric ubiquitinyl hydrolase, activated by PDGFs. Conversely, USP8::PDGFRA is a nuclear protein regulating metabolic processes.</style></abstract></record></records></xml>