Navigation Links
Hereditary colon cancer syndrome marked by abnormally dense blood vessel growth in mouth
Date:6/23/2011

A team led by Johns Hopkins researchers has found that a hereditary colon cancer syndrome, familial adenomatous polyposis (FAP), is associated with abnormally dense blood vessel growth in the skin lining the mouth.

The finding, reported in the June issue of Familial Cancer, could lead to a quick screening test for FAP, which is normally diagnosed with expensive DNA tests and colonoscopies, and sometimes goes unnoticed until cancer develops.

"This higher blood vessel density in the mouth may reflect an abnormal state of cells lining the digestive tract including the oral cavity that predisposes people to colorectal cancer and precancerous polyps," says Francis M. Giardiello, M.D., Johns G. Rangos Sr. Professor of Medicine at Johns Hopkins and director of Hopkins' Hereditary Colorectal Cancer Program.

People who have even one copy of the mutant gene that causes FAP develop hundreds of precancerous colorectal polyps, also known as adenomas, in their teens. Most have their colons removed after diagnosis to avoid what would otherwise be a near-100 percent risk of colon cancer by middle age.

In 2003, Italian researchers reported that a similar genetic condition, hereditary non-polyposis colorectal cancer (HNPCC), was linked to a greater complexity of blood vessels in the oral mucosa the skin that lines the mouth. Daniel L. Edelstein, a senior research program coordinator at Johns Hopkins University School of Medicine, says he read the Italian report and brought it to Giardiello's attention.

Edelstein also contacted Jessica C. Ramella-Roman, an expert on bio-optics systems at The Catholic University of America. "She developed a cameralike device that enabled a direct and relatively automated measurement of this vascular density in the lining of the mouth," he says.

Using Ramella-Roman's device and associated image-analysis software, the researchers scanned a two-centimeter-square patch of oral mucosa inside the lower lip of 33 patients with FAP. All 33 were enrolled in the Johns Hopkins Hereditary Colorectal Cancer Registry. The team also scanned a similar tissue sample of 50 control subjects who were matched for age and other variables but had no personal or family history of colorectal cancer or adenoma(s). Each subject was screened to determine the density of visible blood vessels in their lower lip a measure they called the "oral mucosal vascular density (OMVD)."

"The OMVD measures were significantly higher in FAP patients than in healthy controls," says Giardiello. "About 90 percent of FAP patients in this sample had OMVD values above a certain threshold, and about 90 percent of controls were below that threshold, so in principle, we could use that threshold for screening purposes." Differences in the OMVD results were unrelated to age or gender, according to the researchers.

To further investigate the technique's screening potential, the researchers gave the OMVD test to five of Giardiello's patients who had multiple polyps but no detectable mutation for FAP or HNPCC on genetic tests. "They might have other, unknown gene mutations predisposing them to polyp formation, or they might have FAP or HNPCC mutations that somehow weren't picked up in the tests," said Giardiello.

All five of these patients had OMVD scores above the high-risk threshold. "The results suggest that this high-OMVD condition may be an alternative marker for colon cancer risk, even when we can't find a gene mutation," Giardiello says.

Tumors typically promote the spread of new blood vessels in their vicinity to maintain their high growth rates. FAP mutations also boost the production of factors that increase new-vessel growth in the colon and other tissues. That could explain why people with FAP have higher vascular densities in their mouths, says Giardiello.

"While there seems to be a reason why FAP patients have this denser vessel growth, I don't yet have a plausible explanation for how HNPCC gene mutations could cause this overgrowth," says Giardiello. "It's something that we'd like to investigate further."


'/>"/>

Contact: Vanessa Wasta
wasta@jhmi.edu
410-955-1287
Johns Hopkins Medical Institutions
Source:Eurekalert

Related medicine news :

1. Cause of hereditary blindness discovered
2. Study identifies genetic mutations associated with cancer risk for hereditary cancer syndrome
3. Risk of blood clots in veins hereditary
4. Dogs DNA May Aid Research on Hereditary Parkinsons
5. Intellectual disability is frequently caused by non-hereditary genetic problems
6. Ph.D. thesis on 2 genes involved in hereditary breast and ovary cancer cases
7. New drug reduces tumor size in women with advanced hereditary ovarian or breast cancer
8. Challenges in Hereditary Angioedema: Expert Viewpoint
9. Marriage Might Boost Colon Cancer Survival
10. Less Invasive Colon Surgery Results in Fewer Blood Clots: Study
11. Marriage improves odds of surviving colon cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/20/2017)... ... 20, 2017 , ... Vitamin Well has launched two new ... have been produced in collaboration with Zlatan Ibrahimovic and have been developed to ... a successful launch in Sweden last year, the next generation sports drinks VW+001 ...
(Date:1/20/2017)... ... January 20, 2017 , ... “Code Word: Chocolate Biscuit”: a biographical account following a man ... is the creation of published author, Marlyn Ivey, born in Lynn Haven, Florida and at ... school and at 19 years of age, he joined the Navy and got married right ...
(Date:1/20/2017)... ... 20, 2017 , ... “Christmas in Suffolk”: a story of love, secrets, ... lives in Lafayette, Indiana where she works in a daycare and looks for inspiration ... Published by Christian Faith Publishing, Sara Seymour’s new book is an adventure of love ...
(Date:1/20/2017)... ... January 20, 2017 , ... “The Land of More and ... the issue of world hunger, and shares the simple and achievable answer. “The Land ... and member of the Fairview Missionary Church in Angola, Indiana where he works with ...
(Date:1/19/2017)... ... January 19, 2017 , ... ... On-demand E-learning system for Clinical and Regulatory education for Physicians, Physician Advisors, ... Aerolib`s successful education methodology of Disease Specific Documentation Improvement. , The Aerolib ...
Breaking Medicine News(10 mins):
(Date:1/21/2017)... Jan. 20, 2017  Today, during a ... "PI3K Pathways in Immunology, Growth Disorders and ... INFI ) presented preclinical data ... that selectively inhibits phosphoinositide-3-kinase-gamma (PI3K-gamma). Preclinical data ... overcome resistance to checkpoint inhibition by remodeling ...
(Date:1/20/2017)... Research and Markets has announced the addition of the ... Amplifiers, Diagnostic Instruments), Sales Volume, Company Analysis and Forecast to ... ... Volume, Company Analysis and Forecast to 2022 provides a comprehensive ... The growing prevalence of hearing impairment coupled with an expanding ...
(Date:1/20/2017)... 2017  Palladian Health, a leading provider of ... of an opioid management program which assists physicians ... helps stem the growing tide of dependence on ... chronic non-cancer pain (back pain, neck pain, and ... of evidence regarding long-term effectiveness. The ...
Breaking Medicine Technology: