Publications by authors named "Stephanie Borlase"
OTX2 is a transcription factor and known driver in medulloblastoma (MB), where it is amplified in a subset of tumours and overexpressed in most cases of group 3 and group 4 MB. Here we demonstrate a noncanonical role for OTX2 in group 3 MB alternative splicing. OTX2 associates with the large assembly of splicing regulators complex through protein-protein interactions and regulates a stem cell splicing program.
View Article and Find Full Text PDFSonic Hedgehog (SHH) medulloblastomas (MBs) exhibit an intermediate prognosis and extensive intertumoral heterogeneity. While SHH pathway antagonists are effective in post-pubertal patients, younger patients exhibit significant side effects, and tumors that harbor mutations in downstream SHH pathway genes will be drug resistant. Thus, novel targeted therapies are needed.
View Article and Find Full Text PDFArticle Synopsis
- * Group 4 (G4) MB, the most common subtype, is characterized by somatic mutations affecting the core binding factor alpha (CBFA) complex, including changes to genes like CBFA2T2 and OTX2.
- * Research indicates that G4 MB cells resemble early progenitor cells in the cerebellar region but are stalled in development; targeting OTX2 may help overcome this block and allow these cells to mature normally.
Article Synopsis
- Medulloblastoma (MB) is the most common brain cancer in kids, and recent research highlights the importance of the MEK/MAPK pathway in its growth, especially in Sonic Hedgehog (SHH) MB tumors.
- The MEK inhibitor, selumetinib, shows promise by reducing tumor growth and extending the lifespan of mice but is not a complete solution as tumors eventually progress.
- New findings reveal that the JAK/STAT3 pathway becomes more active when treated with selumetinib, and combining it with pacritinib, a JAK/STAT3 inhibitor, leads to greater tumor reduction and improved survival, suggesting a potential new treatment strategy.