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 Subcutaneous Administration of Multispecific Antibody Makes Tumor Treatment Faster & More Tolerable
01.07.2015 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt

nachricht Why human egg cells don't age well
01.07.2015 | RIKEN

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: X-rays and electrons join forces to map catalytic reactions in real-time

New technique combines electron microscopy and synchrotron X-rays to track chemical reactions under real operating conditions

A new technique pioneered at the U.S. Department of Energy's Brookhaven National Laboratory reveals atomic-scale changes during catalytic reactions in real...

Im Focus: Iron: A biological element?

Think of an object made of iron: An I-beam, a car frame, a nail. Now imagine that half of the iron in that object owes its existence to bacteria living two and a half billion years ago.

Think of an object made of iron: An I-beam, a car frame, a nail. Now imagine that half of the iron in that object owes its existence to bacteria living two and...

Im Focus: Thousands of Droplets for Diagnostics

Researchers develop new method enabling DNA molecules to be counted in just 30 minutes

A team of scientists including PhD student Friedrich Schuler from the Laboratory of MEMS Applications at the Department of Microsystems Engineering (IMTEK) of...

Im Focus: Bionic eye clinical trial results show long-term safety, efficacy vision-restoring implant

Patients using Argus II experienced significant improvement in visual function and quality of life

The three-year clinical trial results of the retinal implant popularly known as the "bionic eye," have proven the long-term efficacy, safety and reliability of...

Im Focus: Lasers for Fast Internet in Space – Space Technology from Aachen

On June 23, the second Sentinel mission was launched from the space mission launch center in Kourou. A critical component of Aachen is on board. Researchers at the Fraunhofer Institute for Laser Technology ILT and Tesat-Spacecom have jointly developed the know-how for space-qualified laser components. For the Sentinel mission the diode laser pump module of the Laser Communication Terminal LCT was planned and constructed in Aachen in cooperation with the manufacturer of the LCT, Tesat-Spacecom, and the Ferdinand Braun Institute.

After eight years of preparation, in the early morning of June 23 the time had come: in Kourou in French Guiana, the European Space Agency launched the...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

World Conference on Regenerative Medicine in Leipzig: Last chance to submit abstracts until 2 July

25.06.2015 | Event News

World Conference on Regenerative Medicine: Abstract Submission has been extended to 24 June

16.06.2015 | Event News

MUSE hosting Europe’s largest science communication conference

11.06.2015 | Event News

 
Latest News

Europeans have unknowingly contributed to the spread of invasive plant species in North America

01.07.2015 | Ecology, The Environment and Conservation

Graphene flexes its electronic muscles

01.07.2015 | Materials Sciences

Physical study may give boost to hydrogen cars

01.07.2015 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>