49th Annual Meeting of the AANS/CNS Section on Pediatric Neurological Surgery Archive-The Phenotypic and Epigenetic Impact of SMARCB1 Restoration in Atypical Teratoid Rhabdoid Tumor

The Phenotypic and Epigenetic Impact of SMARCB1 Restoration in Atypical Teratoid Rhabdoid Tumor - Cody Lee Nesvick, MD

Video Transcription

Video Summary

In this video, Cody Nesvick, a PGY-5 neurosurgery resident at Mayo Clinic, discusses the epigenetic and phenotypic impact of SMARCB1 restoration in ATRT (Atypical Teratoid Rhabdoid Tumor), a rare CNS cancer of young children. Despite current treatments, the survival rate for ATRT remains low. Key findings include the loss of SMARCB1 in 98% of ATRT cases and the role of residual super-enhancer activity in tumorigenesis. Nesvick's study aims to understand how SMARCB1 restoration impacts the epigenetic landscape and phenotype of ATRT. By analyzing ATRT cell lines, the restoration of SMARCB1 is found to decrease proliferative and clonogenic capacity. A correlation between differentially accessible regions and cellular programs involved in morphology and identity is also discovered. The study is ongoing, focusing on identifying specific factors that initiate cellular programs after SMARCB1 restoration. The research is funded by an NREF Research Fellowship grant sponsored by the Academy of Neurological Surgeons.

Keywords

SMARCB1 restoration

ATRT

CNS cancer

epigenetic impact

phenotypic impact