Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Researchers identify genetic mutation for rare cancer

Gene sequencing program gives researchers new leads to improve cancer treatment

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.

Additional authors: Yi-Mi Wu; Shanker Kalyana-Sundaram; Xuhong Cao; Robert J. Lonigro; Yun-Shao Sung; Rui Wang; Fengyun Su; Matthew K. Iyer; Sameek Roychowdhury; Javed Siddiqui; Kenneth J. Pienta; Lakshmi P. Kunju; Moshe Talpaz; and Arul M. Chinnaiyan from U-M; Chun-Liang Chen; Lei Zhang; Samuel Singer; and Cristina R. Antonescu from Memorial Sloan-Kettering Cancer Center; Juan Miguel Mosquera from Weill Cornell Medical College.

Funding: National Cancer Institute grants: U01 CA111275, 5 P30 CA46592, P01 CA047179-15A2, and P50 CA140146-01; National Functional Genomics Center grant W81XWH-11-1-0520; U.S. Department of Defense; the Linn Fund, Cycle for Survival, the Alan Rosenthal Research Fund for Research in Sarcoma, the Weinstein Solitary Fibrous Tumor Research Fund, Doris Duke Charitable Foundation, Burroughs Wellcome Foundation, American Cancer Society, A. Alfred Taubman Institute at the University of Michigan.

Disclosure: The University of Michigan has filed for patent protection on the NAB2-STAT6 gene fusion and is currently looking for licensing partners to help bring the technology to market.

Reference: Nature Genetics, published online Jan. 13, 2013, DOI: 10.1038/ng.2509

Written by Nicole Fawcett

Nicole Fawcett | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht Biologists unravel another mystery of what makes DNA go 'loopy'
16.03.2018 | Emory Health Sciences

nachricht Scientists map the portal to the cell's nucleus
16.03.2018 | Rockefeller University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Locomotion control with photopigments

Researchers from Göttingen University discover additional function of opsins

Animal photoreceptors capture light with photopigments. Researchers from the University of Göttingen have now discovered that these photopigments fulfill an...

Im Focus: Surveying the Arctic: Tracking down carbon particles

Researchers embark on aerial campaign over Northeast Greenland

On 15 March, the AWI research aeroplane Polar 5 will depart for Greenland. Concentrating on the furthest northeast region of the island, an international team...

Im Focus: Unique Insights into the Antarctic Ice Shelf System

Data collected on ocean-ice interactions in the little-researched regions of the far south

The world’s second-largest ice shelf was the destination for a Polarstern expedition that ended in Punta Arenas, Chile on 14th March 2018. Oceanographers from...

Im Focus: ILA 2018: Laser alternative to hexavalent chromium coating

At the 2018 ILA Berlin Air Show from April 25–29, the Fraunhofer Institute for Laser Technology ILT is showcasing extreme high-speed Laser Material Deposition (EHLA): A video documents how for metal components that are highly loaded, EHLA has already proved itself as an alternative to hard chrome plating, which is now allowed only under special conditions.

When the EU restricted the use of hexavalent chromium compounds to special applications requiring authorization, the move prompted a rethink in the surface...

Im Focus: Radar for navigation support from autonomous flying drones

At the ILA Berlin, hall 4, booth 202, Fraunhofer FHR will present two radar sensors for navigation support of drones. The sensors are valuable components in the implementation of autonomous flying drones: they function as obstacle detectors to prevent collisions. Radar sensors also operate reliably in restricted visibility, e.g. in foggy or dusty conditions. Due to their ability to measure distances with high precision, the radar sensors can also be used as altimeters when other sources of information such as barometers or GPS are not available or cannot operate optimally.

Drones play an increasingly important role in the area of logistics and services. Well-known logistic companies place great hope in these compact, aerial...

All Focus news of the innovation-report >>>



Industry & Economy
Event News

Ultrafast Wireless and Chip Design at the DATE Conference in Dresden

16.03.2018 | Event News

International Tinnitus Conference of the Tinnitus Research Initiative in Regensburg

13.03.2018 | Event News

International Virtual Reality Conference “IEEE VR 2018” comes to Reutlingen, Germany

08.03.2018 | Event News

Latest News

Wandering greenhouse gas

16.03.2018 | Earth Sciences

'Frequency combs' ID chemicals within the mid-infrared spectral region

16.03.2018 | Physics and Astronomy

Biologists unravel another mystery of what makes DNA go 'loopy'

16.03.2018 | Life Sciences

Science & Research
Overview of more VideoLinks >>>