Origin Discovered for Rare Ovarian Cancer

A recent study shows that researchers have uncovered the cause of a very rare type of ovarian cancer that most commonly occurs in young women. 

For patients suffering from the health issues, researchers discovered a 'genetic superhighway' mutation that's found in a significant number of patients with small cell carcinoma of the ovary that is also referred to as SCCOHT.

This small cell ovarian carcinoma of the hypercalcemic type represents an aggressive tumor with poor prognosis in which there is typically no cell line or animal models available for study.

This cancer is also not diagnosed during the initial stages as it does not respond to standard chemotherapy. In fact, statistics show that 65 percent of patients diagnosed with this type of cancer die within 2 years. Though the disease typically strikes women in their late twenties, researchers note that it can affect girls as young as 14 months old.

"This is a thoroughly remarkable study. Many genetic anomalies can be like a one-lane road to cancer; difficult to negotiate. But these findings indicate a genetic superhighway that leads right to this highly aggressive disease," said Dr. Jeffrey Trent, President and Research Director of TGen, and the study's senior author, via a press release. "The correlation between mutations in SMARCA4 and the development of SCCOHT is simply unmistakable."

Trent went on to add that discovering the origins of this rare cancer could help to provide better treatment options in the future.

"We set out to uncover any small sliver of hope for women afflicted with this rare cancer. What we found instead are the nearly universal underpinnings of SCCOHT," said Pilar Ramos, a TGen Research Associate, and the study's lead author, via the release. "By definitively identifying the relationship between SMARCA4 and SCCOHT, we have high confidence that we have set the stage for clinical trials that could provide patients with immediate benefit."

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More information regarding the study can be found via the journal Nature Genetics.