Pitt Pediatrics congratulates Julia Leix, MD, MS for her recent publication in the European Society for Medical Oncology Rare Cancers journal investigating the loss of the ATRX tumor suppressor on gene expression, DNA methylation, and transposable element (TE) expression in common soft tissue sarcoma tumors. Leix is fellow in our Division of Blood and Marrow Transplantation and Cellular Therapies (BMT). 
In this article, titled, “ATRX loss in sarcomas is associated with dysregulated gene and transposable element expression, loss of DNA methylation, and worse survival,” Leix and co-authors analyzed over 200 tumors from patients with dedifferentiated liposarcoma (DDLPS), uterine LMS (uLMS), and myxofibrosarcoma (MFS) in order to determine the relationship between the ATRX and the family of rare cancers in common soft tissue sarcoma tumors.
Ultimately, the research team determined ATRX loss was associated with significantly altered gene expression with the greatest impact in LMS/uLMS. Further, ATRX loss contributes to a loss of TE silencing, indicating a marked de-repression of TEs. Overall, length of survival in LMS patients was over twice as long for tumors with ATRX retention as compared to loss.
This important research concludes that ATRX loss in sarcomas leads to DNA hypomethylation, increased expression of TEs, as well as transcriptional dysregulation affecting key oncogenic pathways. Therefore, ATRX status could potentially serve as a biomarker for prognosis and therapeutic stratification.
Join us in congratulating Dr. Leix on this important work. And follow Pitt Pediatrics on Bluesky for future updates on faculty publications and research.