Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Check colon tumors for signs of syndrome, study suggests

09.05.2005


A new study suggests that, after surgery, all colon tumors should be tested to learn if the patient may have an inherited syndrome that carries an extremely high risk of cancer. It also suggests that this prescreening can be done using a relatively inexpensive microscopy test already used in hospital pathology laboratories.

The study showed that two to three percent(at least one in 45) of people with colon cancer probably have mutations for the inherited syndrome, known as Lynch syndrome (also known as hereditary nonpolyposis colon cancer, or HNPCC).

Prescreening for Lynch syndrome will help determine if the person and his or her relatives should consider genetic counseling and testing for the syndrome. In addition, the test might help doctors better estimate a patient’s long-term prognosis.



The study, led by researchers with The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, is published in the May 5 issue of the New England Journal of Medicine.

Lynch syndrome is caused by a mutation in one of four genes. One out of two first-degree relatives of those with the syndrome are also likely to have the mutations. “These are particularly bad mutations,” says principal investigator Albert de la Chapelle, professor of molecular virology, immunology and medical genetics at Ohio State . “A person who has one of these mutations has an almost 100 percent lifetime risk of cancer.”

The risk is highest for colon cancer, followed by a lower risk of uterine cancer and several other cancers, he says. “People with Lynch syndrome need closer cancer surveillance, with annual colonoscopies starting at age 25,” de la Chapelle says. “This has been proven to prevent cancer and to prevent death from cancer.”

In addition, he says, it is important for someone in a high-risk family to know that he or she lacks the mutation. “Those relatives do not require the intense cancer surveillance.” Lynch-syndrome mutations occur in about one person per thousand of the general population.

The study led by de la Chapelle involved 1,066 patients with newly diagnosed colorectal cancer from six hospitals in the Columbus, OH, metropolitan area. Tumor cells from each patient were tested for microsatellite instability (MSI), a hallmark of Lynch syndrome. MSI occurs in more than 90 percent of Lynch syndrome tumors.

To learn the frequency of Lynch syndrome generally, the researchers tested all the tumors for the presence of MSI. They also used an alternative method to prescreen for mutations known as immunohistochemistry. Of the 1,066 tumors tested, 208 showed MSI. Of these, 23 (2.2 percent of the total) had Lynch syndrome mutations. Five of the tumors came from patients that did not meet the usual criteria for diagnosing Lynch syndrome. That diagnosis is largely based on family history and age. Ordinarily, these five cases would have gone undiagnosed.

Furthermore, the 23 people with Lynch syndrome had 117 first-degree relatives who also may have inherited the mutations. The counseling and testing of these individuals revealed 52 people with undiagnosed Lynch syndrome; 65 of the people had no mutations. “There are now 52 people who know they have Lynch syndrome because they had a relative in this study,” says first author Heather Hampel, a genetic counselor with The James Cancer Hospital and Solove Research Institute. “It’s important that people who have this syndrome know they have it because there is a good chance we can prevent cancer from developing or at least detect it early when it is more easily treated.”

The study also identified immunohistochemistry as an effective way to prescreen colon tumors for MSI, suggesting that Lynch syndrome mutations may be present. The method is less costly than the usual means of identifying MSI, a method known as genotyping, and it can be done by most hospital pathology laboratories. As the next step before proposing nation-wide screening for Lynch syndrome the OSU researchers are planning to implement their screening strategy Ohio-wide.

Testing all colon tumors for MSI is becoming important because patients with tumors that show MSI tend to have a better prognosis than patients whose tumors do not. “So using this test to prescreen for Lynch syndrome should also help oncologists give patients more accurate information about their prognosis and five-year survival,” Hampel says.

Other OSU researchers involved in this study were Wendy L. Frankel, Edward Martin, Mark Arnold, Hidewaki Nakagawa, Kaisa Sotamaa, Thomas W. Prior, Judith Westman, Jenny Panescu, Dan Fix, Janet Lockman and Ilene Comeras.

Mount Carmel East Medical Center, Mount Carmel West Medical Center, St. Ann’s Hospital, Riverside Methodist Hospital and Grant Medical Center, as well as Ohio State’s James Cancer Hospital and Solove Research Institute contributed to this study.

Funding from the National Cancer Institute and the State of Ohio Biomedical Research and Technology Transfer Commission supported this research.

Darrell E. Ward | EurekAlert!
Further information:
http://www.osu.edu

More articles from Studies and Analyses:

nachricht The Great Unknown: Risk-Taking Behavior in Adolescents
19.01.2017 | Max-Planck-Institut für Bildungsforschung

nachricht A sudden drop in outdoor temperature increases the risk of respiratory infections
11.01.2017 | University of Gothenburg

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

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

Im Focus: Traffic jam in empty space

New success for Konstanz physicists in studying the quantum vacuum

An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...

Im Focus: How gut bacteria can make us ill

HZI researchers decipher infection mechanisms of Yersinia and immune responses of the host

Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...

Im Focus: Interfacial Superconductivity: Magnetic and superconducting order revealed simultaneously

Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.

While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...

Im Focus: Studying fundamental particles in materials

Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales

Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...

Im Focus: Designing Architecture with Solar Building Envelopes

Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.

As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Sustainable Water use in Agriculture in Eastern Europe and Central Asia

19.01.2017 | Event News

12V, 48V, high-voltage – trends in E/E automotive architecture

10.01.2017 | Event News

2nd Conference on Non-Textual Information on 10 and 11 May 2017 in Hannover

09.01.2017 | Event News

 
Latest News

New Study Will Help Find the Best Locations for Thermal Power Stations in Iceland

19.01.2017 | Earth Sciences

Not of Divided Mind

19.01.2017 | Life Sciences

Molecule flash mob

19.01.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>