Featured Research

from universities, journals, and other organizations

Researchers create 'scoring system' for PTEN mutation testing

Date:
January 10, 2011
Source:
Cleveland Clinic Foundation
Summary:
Researchers have discovered a method for more precise identification of individuals who should undergo testing for genetic mutations of the tumor suppressor gene PTEN, which associates with a variety of conditions including several types of cancers. The research has created a diagnostic scoring system that improves on established criteria.

Researchers have discovered a method for more precise identification of individuals who should undergo testing for genetic mutations of the tumor suppressor gene PTEN, which associates with a variety of conditions including several types of cancers. The research has created a diagnostic scoring system that improves on established criteria.

Led by Charis Eng, M.D., Ph.D., Chair of the Genomic Medicine Institute at the Lerner Research Institute of Cleveland Clinic, the study -- the largest clinical study to date on the identification of PTEN -- involved 3,042 participants, including both adults and children. Dr. Eng and her team established a semi-quantitative diagnostic score as an evidence-based improvement over the existing National Comprehensive Cancer Network (NCCN) 2010 diagnostic criteria, resulting in more accurate diagnoses and, theoretically, better outcomes.

These results contribute to clinical practice recommendations. "The new criteria give non-genetics healthcare providers a guide of who should be referred to genetics evaluation, which includes genetic counseling," said Dr. Eng. "Knowing one's PTEN gene status will lead to personalized cancer screening, resulting in catching cancers earlier or even preventing them from coming at all."

In addition to the association between mutant PTEN and disease, the study's novel scoring system also incorporates the amount of PTEN protein as it relates to disease. A higher diagnostic score correlates with lower PTEN protein, substantiating previous laboratory studies that show lower PTEN levels associate with carcinogenesis. "This is the first human evidence of a causal relationship between PTEN protein deficiency and disease manifestation, which had only been previously been shown in the laboratory dish or animal model," Eng remarked.

Researchers studied an international group of 290 patients who carry disease-causing PTEN mutations, which exceeds the total number of such patients reported in all published medical literature by 37 percent. The study also hails higher stringency, as only probands (the first family member to be affected by the disease) were included. This increases the study's ability to assess each disease feature, such as macrocephaly (larger-than-normal head size), various cancers and age at onset, as well as skin, neurologic, and gastrointestinal complications, without bias.

For the first time, the scoring system provides criteria for addressing important differences in assessing pediatric versus adult patients. Furthermore, autism, which was first linked to mutant PTEN by Dr. Eng and her team, is included in the clinical criteria. Although vascular malformations (altered blood vessels) have long been reported in adults with Cowden syndrome, the malformations are not part of NCCN criteria. In contrast, the newly discovered criteria specifically recommend these patients undergo further genetic testing for early diagnosis of other lurking complications, such as cancers, so that more careful screening can occur.


Story Source:

The above story is based on materials provided by Cleveland Clinic Foundation. Note: Materials may be edited for content and length.


Cite This Page:

Cleveland Clinic Foundation. "Researchers create 'scoring system' for PTEN mutation testing." ScienceDaily. ScienceDaily, 10 January 2011. <www.sciencedaily.com/releases/2011/01/110110103828.htm>.
Cleveland Clinic Foundation. (2011, January 10). Researchers create 'scoring system' for PTEN mutation testing. ScienceDaily. Retrieved July 29, 2014 from www.sciencedaily.com/releases/2011/01/110110103828.htm
Cleveland Clinic Foundation. "Researchers create 'scoring system' for PTEN mutation testing." ScienceDaily. www.sciencedaily.com/releases/2011/01/110110103828.htm (accessed July 29, 2014).

Share This




More Health & Medicine News

Tuesday, July 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Ebola Virus Threatens West Africa

Deadly Ebola Virus Threatens West Africa

AP (July 28, 2014) West African nations and international health organizations are working to contain the largest Ebola outbreak in history. It's one of the deadliest diseases known to man, but the CDC says it's unlikely to spread in the U.S. (July 28) Video provided by AP
Powered by NewsLook.com
$15B Deal on Vets' Health Care Reached

$15B Deal on Vets' Health Care Reached

AP (July 28, 2014) A bipartisan deal to improve veterans health care would authorize at least $15 billion in emergency spending to fix a veterans program scandalized by long patient wait times and falsified records. (July 28) Video provided by AP
Powered by NewsLook.com
Two Americans Contract Ebola in Liberia

Two Americans Contract Ebola in Liberia

Reuters - US Online Video (July 28, 2014) Two American aid workers in Liberia test positive for Ebola while working to combat the deadliest outbreak of the virus ever. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Traditional African Dishes Teach Healthy Eating

Traditional African Dishes Teach Healthy Eating

AP (July 28, 2014) Classes are being offered nationwide to encourage African Americans to learn about cooking fresh foods based on traditional African cuisine. The program is trying to combat obesity, heart disease and other ailments often linked to diet. (July 28) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins