Study Suggests Existing Drugs Could Treat Rare Bone Cancer

Rare Daily Staff

Some patients with chordoma, a rare bone cancer, could benefit from a class of approved drugs known as P13K inhibitors, according to a study from scientists at the Wellcome Trust Sanger Institute, University College London Cancer Institute, and the Royal National Orthopaedic Hospital NHS Trust.

The study, published in Nature Communications, was the largest genomics study of chordoma tumors to date. It showed that a group of chordoma patients have mutations in genes that are the target of PI3K inhibitors.

Chordomas are aggressive and life-threatening tumors that form in the vertebral bodies of the spine, the sacrum and base of the skull. Because they involve critical structures, such as the brainstem, spinal cord, and important nerves and arteries, chordomas are difficult to treat. Surgery and radiation are currently the only effective forms of treatment.

In the study, the scientists used, for the first time, whole genome sequencing to gain a better understanding of the biology underlying chordoma. The findings provide promise of new treatment options for a cancer with a poor prognosis.

The researchers studied chordoma tumors from 104 patients and found that 16 percent of the tumor samples had genetic changes, or mutations, in PI3K signaling genes. Existing drugs, known as PI3K inhibitors, already target these genes and are used to treat a number of cancers, including breast cancer, lung cancer, and lymphoma. They have not yet been considered as a treatment for chordoma.

“These findings represent a major step forward in understanding the underlying causes of chordoma, and provide hope that better treatments may soon be available for some patients,” said Josh Sommer, executive director of the Chordoma Foundation, USA.

The researchers suggest a clinical trial of PI3K inhibitors be conducted for the group of chordoma patients who may be able to benefit from existing treatments.

October 17, 2017