In 2013, I graduated from the College of the Holy Cross where I had work with Dr. Kenneth Mills on studying protein splicing. After college, I worked as a research assistant in Dr. Rameen Beroukhim's lab at the Dana-Farber Cancer Institute. In the Beroukhim lab, I worked with graduate student, William Gibson, and postdoctoral fellow, Brenton Paolella on validating the splicing factor SF3B1 as a CYCLOPS gene. In 2015, I began the University of Connecticut MD/PhD program, and joined the Anczukow lab in 2017.
Angiocentric gliomas are pediatric low-grade gliomas (PLGGs) without known recurrent genetic drivers. We performed genomic analysis of new and published data from 249 PLGGs, including 19 angiocentric gliomas. We identified MYB-QKI fusions as a specific and single candidate driver event in angiocentric gliomas. In vitro and in vivo functional studies show that MYB-QKI rearrangements promote tumorigenesis through three mechanisms: MYB activation by truncation, enhancer translocation driving aberrant MYB-QKI expression and hemizygous loss of the tumor suppressor QKI. To our knowledge, this represents the first example of a single driver rearrangement simultaneously transforming cells via three genetic and epigenetic mechanisms in a tumor.
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