Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers identify genetic mutation for rare cancer

16.01.2013
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:
http://www.umich.edu

More articles from Life Sciences:

nachricht Why do animals fight members of other species?
24.04.2015 | University of California - Los Angeles

nachricht Is a small artificially composed virus fragment the key to a Chikungunya vaccine?
24.04.2015 | Paul-Ehrlich-Institut - Bundesinstitut für Impfstoffe und biomedizinische Arzneimittel

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Fast and Accurate 3-D Imaging Technique to Track Optically-Trapped Particles

KAIST researchers published an article on the development of a novel technique to precisely track the 3-D positions of optically-trapped particles having complicated geometry in high speed in the April 2015 issue of Optica.

Daejeon, Republic of Korea, April 23, 2015--Optical tweezers have been used as an invaluable tool for exerting micro-scale force on microscopic particles and...

Im Focus: NOAA, Tulane identify second possible specimen of 'pocket shark' ever found

Pocket sharks are among the world's rarest finds

A very small and rare species of shark is swimming its way through scientific literature. But don't worry, the chances of this inches-long vertebrate biting...

Im Focus: Drexel materials scientists putting a new spin on computing memory

Ever since computers have been small enough to be fixtures on desks and laps, their central processing has functioned something like an atomic Etch A Sketch, with electromagnetic fields pushing data bits into place to encode data.

Unfortunately, the same drawbacks and perils of the mechanical sketch board have been just as pervasive in computing: making a change often requires starting...

Im Focus: Exploding stars help to understand thunderclouds on Earth

How is lightning initiated in thunderclouds? This is difficult to answer - how do you measure electric fields inside large, dangerously charged clouds? It was discovered, more or less by coincidence, that cosmic rays provide suitable probes to measure electric fields within thunderclouds. This surprising finding is published in Physical Review Letters on April 24th. The measurements were performed with the LOFAR radio telescope located in the Netherlands.

How is lightning initiated in thunderclouds? This is difficult to answer - how do you measure electric fields inside large, dangerously charged clouds? It was...

Im Focus: On the trail of a trace gas

Max Planck researcher Buhalqem Mamtimin determines how much nitrogen oxide is released into the atmosphere from agriculturally used oases.

In order to make statements about current and future air pollution, scientists use models which simulate the Earth’s atmosphere. A lot of information such as...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

HHL Energy Conference on May 11/12, 2015: Students Discuss about Decentralized Energy

23.04.2015 | Event News

“Developing our cities, preserving our planet”: Nobel Laureates gather for the first time in Asia

23.04.2015 | Event News

HHL's Entrepreneurship Conference on FinTech

13.04.2015 | Event News

 
Latest News

Electrons Move Like Light in Three-Dimensional Solid

24.04.2015 | Materials Sciences

Connecting Three Atomic Layers Puts Semiconducting Science on Its Edge

24.04.2015 | Materials Sciences

Understanding the Body’s Response to Worms and Allergies

24.04.2015 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>