Another success in the pediatric brain tumor research arena, as Dana Farber Cancer Institute and Children’s Hospital of Philadelphia researchers announce that a recent collaborative study has identified a genetic mechanism, an abnormal DNA sequence that causes angiocentric brain tumors, a rare type of pediatric low grade glioma tumors.  This groundbreaking study, funded by AKBTC and the NIH, is great news for patients afflicted with this rare PLGG tumor type, as this discovery will enable doctors to confidently identify these tumors and treat them surgically, without further radiation or chemotherapy.

The study, MYBQKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism , published in Nature Genetics Magazine on February 1st 2016, analyzed data from 249 PLGG tumors, including 19 angiocentric gliomas and discovered an unusual genetic accident as the fundamental cause of the angiocentric gliomas. The culprit event is a shuffling of DNA segments that brings together two separate genes, MYB and QKI, which become joined, or fused. MYB is a “proto-oncogene”, a normal gene that can become a cancer-causing oncogene. QKI is a tumor-suppressor gene that normally functions to prevent cells from becoming malignant. When these two genes are abnormally joined, the researchers found, it triggers not one but three different mechanisms that converge to produce a tumor.  Up until now, no specific genetic abnormality had been identified as a “driver” of angiocentric gliomas.

This finding is significant as it will enable clinicians to treat this type of tumor primarily with surgery without the life-long consequences of additional therapies.  A Kid’s Brain Tumor Cure- Pediatric Low-Grade Astrocytoma Foundation provided significant support to this project. In addition, there were multiple other funding sources for both the DFCI Pediatric Low-Grade Astrocytoma Foundation and CHOP’s low-grade glioma program as listed in the manuscript. Congratulations to the primary authors: Dr. Adam Resnick, Dr. Keith Ligon, Dr. Rameen Beroukhim, Dr Pratiti Bandopadhayay, Dr Lori Ramkissoon, Dr. Guillaume Bergthold, Payal Jain and the entire research team. The complete manuscript of this study can be found here.