University of California San Francisco
Helen Diller Family Comprehensive Cancer Center

Genome Sequencing Uncovers Therapy for Rare Brain Tumor

By Dana Smitth | | February 27, 2018

Genome Sequencing Uncovers Therapy for Rare Brain Tumor

A microscopic image of chordoid glioma.

Brain tumors are among the deadliest forms of cancer, due in large part to their sensitive location and the challenge of performing surgery to remove them. New research led by David Solomon,MD, PhD, an assistant professor in the Department of Pathology at UC San Francisco, provides much-needed targeted treatment options for patients whose tumors cannot be surgically removed.

Using tumor genome sequencing, Solomon identified the first potential targeted drug to treat chordoid gliomas, a rare type of brain cancer that develops within the third ventricle, a fluid-filled pocket that helps cushion the brain. Although these tumors are slow-growing, their proximity to the hypothalamus – a critical brain region involved in hormone production – makes chordoid gliomas difficult and potentially deadly to remove.

In the study, published on Feb. 23, 2018, in Nature Communications, Solomon’s team sequenced the genomes of 13 chordoid glioma tumors and identified a single mutation in one gene, PRKCA, that was consistent across all 13 samples. PRKCA is part of a key growth pathway, called MAP kinase, that is turned off in normal brain cells. The mutation in PRKCA activates this MAP kinase pathway, causing the cells to divide dangerously and form a tumor.

While PRKCA is not yet known to be mutated in any other type of cancer, Solomon says most human tumors activate this same growth pathway via one genetic mechanism or another.