Researchers at St. Jude Children’s Research Hospital have identified three genes that play a pivotal role in the brain tumor choroid plexus carcinoma (CPC), a discovery that lays the groundwork for more effective treatment of this rare, often fatal cancer.
St. Jude scientists led the study that recently appeared in the journal, Cancer Cell.
The genes—TAF12, NFYC and RAD54L—are involved in DNA repair and regulation. Researchers showed that CPC often has at least one extra copy of each gene and demonstrated that the genes work cooperatively to launch and sustain the tumor. Investigators also found evidence that investigational drugs called ATR inhibitors that are already in development for cancer treatment may be effective against CPC. The drugs work by blocking certain DNA repair enzymes, increasing the susceptibility of tumor cells to chemotherapy or radiation.
Planning has begun for a possible international clinical trial featuring an ATR inhibitor.
The findings suggest that disruption of normal DNA maintenance and repair plays a central role in CPC, a tumor with few treatment options. Of the estimated 50 pediatric CPC patients identified each year in the U.S., about two-thirds will die of their disease. While CPC occurs in both children and adults, most CPC patients are ages 2 or younger.