In a new study, researchers are hopeful that the identification of the origin and a specific gene needed for tumor growth could lead to new therapeutics to treat deadly brain cancer.
The discovery relates to a subgroup of glioblastoma, a rare but aggressive form of cancer that typically proves fatal within three years of onset.
The research was conducted by a team at McGill University
To complete their study, the team assembled the largest collection of samples for this subgroup of glioblastoma and discovered new cancer-causing mutations in a gene called PDGFRA, which drives cell division and growth when it is activated.
The researchers noted that close to half of the patients at diagnosis and the vast majority at tumor recurrence had mutations in this gene, which was also unusually highly expressed in this subgroup of glioblastoma.
The team used a “big data” resource generated by their team using new technologies that measure the levels of every gene in thousands of individual cells.
They were able to discover that this brain tumor originates in a specific type of neuronal stem cell.
The researchers note that the PDGFRA gene is not usually turned on in this neuronal stem cell population.
They found that exquisitely in this neuronal stem cell, the DNA has a unique structure in the 3D dimension that allows the PDGFRA gene to become activated where it shouldn’t be, ultimately leading to cancer.
The finding is also important in properly classifying the tumor. Previously, this tumor type was classified as a “glioma”, because under the microscope, it resembles glial cells, one of the major cell types in the brain.
The work reveals that this is a case of mistaken identity. These tumors actually arise in a neuronal cell, not a glial cell.
The findings provide hope for potential treatment.
PDGFRA is targetable by drugs that inhibit its activity, and there are, in fact already approved drugs that target it for other cancers for which mutations in this gene are responsible.
This offers hope for work into finding targeted therapies for this group of deadly brain tumors, note the researchers.
One author of the study is McGill’s Dr. Nada Jabado, Professor of Pediatrics and Human Genetics.
The study is published in Cell.
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