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 Real-time feedback helps save energy and water
08.02.2017 | Otto-Friedrich-Universität Bamberg

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

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: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Microhotplates for a smart gas sensor

22.02.2017 | Power and Electrical Engineering

Scientists unlock ability to generate new sensory hair cells

22.02.2017 | Life Sciences

Prediction: More gas-giants will be found orbiting Sun-like stars

22.02.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>