Existing drugs may help patients with a rare bone cancer of spine and skull or chordoma, suggested scientists from the Welcome Trust Sanger Institute, Royal National Orthopaedic Hospital NHS Trust, and University College London Cancer Institute.  Chordoma is a rare form of bone cancer that affects one in every 800,000 people in the U.K. and can strike individuals belonging to all age groups. chordoma is a slow growing, aggressive, life threatening tumors that form in the vertebral bodies of the spine, the sacrum, and the base of the skull. This cancerous tumor is developed from persistent embryonic tissue, known as notochord.

Results of Whole Genome Sequencing Gives Promising Results

Chordoma is difficult to treat as they involve critical structures such as spinal cord, brainstem, arteries, and important nerves. Radiation and surgery are the only treatment. However, for the first time, scientists have used whole genome sequencing and the results promise new treatment options for cancer with poor prognosis. The team of scientists studied chordoma tumors from over 100 patients and found that over 15% of the tumor samples had mutations in PI3K signaling genes, which are the target of existing drugs, also known as PI3K inhibitors, used to treat breast and lung cancer and also lymphoma, but never considered for chordoma!

New Cancer Gene Discovered, Specific Only to Chordoma

The team also discovered a new cancer gene, which is specific to chordoma. This gene is known as LYST and is not found in any other cancer types. Scientists say that this new finding warrants future, in-depth research. The scientists have shown that a group of chordoma patients can be treated with PI3K inhibitors, based on their mutations. This treatment option could have been entirely missed had these scientists not done genomic sequencing of their tumors.

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