It started with a 44-year-old woman with solitary fibrous tumor, a rare cancer seen in only a few hundred people each year.
By looking at the entire DNA from this one patient's tumor, researchers have found a genetic anomaly that provides an important clue to improving how this cancer is diagnosed and treated.
Researchers at the University of Michigan Comprehensive Cancer Center sequenced the tumor's genome through a new program called MI-ONCOSEQ, which is designed to identify genetic mutations in tumors that might be targeted with new therapies being tested in clinical trials.
The sequencing also allows researchers to find new mutations. In this case, an unusual occurrence of two genes – NAB2 and STAT6 – fusing together. This is the first time this gene fusion has been identified.
"In most cases, mutations are identified because we see them happening again and again. Here, we had only one case of this. We knew NAB2-STAT6 was important because integrated sequencing ruled out all the known cancer genes. That allowed us to focus on what had been changed," says lead study author Dan R. Robinson, research fellow with the Michigan Center for Translational Pathology.
Once they found the aberration, the researchers looked at 51 other tumor samples from benign and cancerous solitary fibrous tumors, looking for the NAB2-STAT6 gene fusion. It showed up in every one of the samples. Results are published online in Nature Genetics.
"Genetic sequencing is extremely important with rare tumors," says study co-author Scott Schuetze, M.D., associate professor of internal medicine at the U-M Medical School. "Models of rare cancers to study in the laboratory are either not available or very limited. The sequencing helps us to learn more about the disease that we can use to develop better treatments or to help diagnose the cancer in others."
The NAB2-STAT6 fusion may prove to be a difficult target for therapies, but researchers believe they may be able to attack the growth signaling cycle that leads to this gene fusion.
"Understanding the changes induced in the cell by the NAB2-STAT6 gene fusion will help us to select novel drugs to study in patients with advanced solitary fibrous tumors. Currently this is a disease for which there are no good drug therapies available and patients are in great need of better treatments," Schuetze says.
No treatments or clinical trials are currently available based on these findings. Additional testing in the lab is needed to assess the best way to target NAB2-STAT6. The gene fusion could also potentially be used to help identify solitary fibrous tumors in cases where diagnosis is challenging.
University of Michigan Health System: http://www.med.umich.edu
This press release was posted to serve as a topic for discussion. Please comment below. We try our best to only post press releases that are associated with peer reviewed scientific literature. Critical discussions of the research are appreciated. If you need help finding a link to the original article, please contact us on twitter or via e-mail.
From flying frogs to deep-sea squid, meet some of the other nosferatu of the animal kingdom
After 50 years of cutting-edge seafloor exploration, the Alvin submersible—renegade deep-sea explorer for the Woods Hole Oceanographic Institute—just got a long-deserved makeover. Alvin is the United States’ only deep-diving manned submersible used for science, so its upgrades will have a serious impact on the discoveries we can pull off in the deep.
Animals took so long to evolve and thrive on Earth because of incredibly low levels of oxygen during a period more than a billion years ago, scientists say.
By combining compounds in just the right mixture, researchers have worked out how to produce the olfactory equivalent of white noise
The pain that scratching causes soothes an itch – but only for a second. As soon as the brain's response to that pain kicks it, it ramps up the itch further
A man's lifelong fear of spiders vanished overnight with the removal of a part of his brain – it gives an insight into where and how our fears are stored
Scientists have been puzzling for years over why some people survive Ebola while many others perish. A new study provides strong evidence that individual genetic differences play a major role in whether people die from the disease.
Zookeepers are keeping an eye on the 120-pound giraffe calf, making sure he's getting all the nutrition he needs. He could make his first appearance in the feeding habitat as soon as next week.
Biologists are reporting signs of a possible zombie apocalypse. Well, at least for the honeybee population. A parasite that has been turning bees on the West Coast into zombie-like creatures has started infecting bees in the East, and biologists are still puzzled as to how it all works.
An innate ability some people have to manipulate their vocal frequency could be the key to sounding charismatic, according to new research.