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Study finds new cause of rare bone cancer

Category: Cancer Detection and Tumor Markers

Unlike most forms of cancer, which are caused by genetic mutations, a rare bone cancer is the result of a unique gene duplication, researchers say.

Chordoma, a familial cancer which produces tumors at the base of the skull or on the spinal column, currently has no cure and few effective treatments. The growths are believed to originate from remnants of the notochord, an embryonic precursor to the spinal column. Because the disease is hereditary, researchers at the National Cancer Institute (NCI) launched an examination of the genetic material of large families with a history of the disease through several generations to investigate its causes.

Scientists found that in four of the seven families studied, all individuals with the disease expressed a second copy of the "T gene," which is related to notochord development.

Dr Rose Yang one of the study's lead authors commented, "Chordomas in the three families without T gene duplications may result from mutations of other genes or an as yet unidentified process."

The research team suggested that T-gene duplications create an increased risk of the bone cancer and will be valuable in identifying cancer development during lab testing.

According to the Chrodoma Foundation, the average duration of survival after diagnosis of the bone disease is five to seven years.