Featured Research

from universities, journals, and other organizations

Scans Spot Hidden Tumors In Rare Cancer Syndrome

Date:
March 21, 2008
Source:
Dana-Farber Cancer Institute
Summary:
Researchers report that full-body PET/CT scanning detected unsuspected, treatable tumors in 3 of 15 patients with Li-Fraumeni syndrome, a rare genetic cancer syndrome for which no screening tests have been recommended. They caution, however, that further, larger studies are needed to determine whether PET/CT screening is beneficial in LFS patients, who are highly susceptible to a variety of cancers from an early age because of an inborn gene mutation.

Researchers at Dana-Farber Cancer Institute report that full-body PET/CT scanning detected unsuspected, treatable tumors in 3 of 15 patients with Li-Fraumeni syndrome (LFS), a rare genetic cancer syndrome for which no screening tests have been recommended.

Related Articles


The results suggest that periodic scans in combination with physical exams might catch more tumors at a curable stage, the investigators report in the March 19 issue of the Journal of the American Medical Association. But they caution that further, larger studies are needed to determine whether PET/CT screening is beneficial in LFS patients, who are highly susceptible to a variety of cancers from an early age because of an inborn gene mutation.

"We need to be cautious, and we shouldn't say that every patient with the syndrome should have a PET/CT examination," said Annick Van Den Abbeele, MD, clinical director of radiology and director of nuclear medicine/positron emission tomography (PET) at Dana-Farber. "But the study showed some interesting findings that justify a larger, international study in these patients."

PET detects cancers by tracking their abnormal appetite for sugar (glucose) compared to normal tissues, while CT (computed tomography) uses X-rays to show anatomical and structural details. Combining the two modalities in a single machine allows a patient to undergo both exams in one session; the resulting images are superimposed to reveal the precise location of suspected tumors.

LFS is a rare hereditary cancer syndrome named for the researchers who first described it, Frederick Li, MD, of Dana-Farber and Joseph Fraumeni Jr., MD, of the National Cancer Institute. In most cases, the cause is a mutation in the TP53 tumor suppressor gene that can be inherited and creates a high risk of a variety of malignancies, including sarcomas, breast cancer, leukemia, brain tumors, and many more common cancers at unusually early ages, including childhood. Among individuals with LFS, the chance of developing any cancer has been estimated at 50 percent by age 30, and 90 percent by age 60. A survivor of one cancer has a high risk of developing a new malignancy over time.

The syndrome is usually diagnosed after several members of a family develop early-onset tumors, prompting a test for the mutated gene. At present, there is no specific screening test to detect cancers before they become symptomatic in people carrying the Li-Fraumeni mutation because they are prone to such a wide variety of cancer types.

"We decided to study this in the adult LFS population because PET/CT scanning is used in the care of many of the type cancers that occur in LFS. Both LFS families and physicians have been frustrated by the lack of information for families with a rare and burdensome condition," said Judy Garber, MD, MPH, senior author of the paper and director of Dana-Farber's Cancer Risk and Prevention Clinic.

The pilot study recruited 15 healthy members of Li-Fraumeni families carrying the TP53 mutation and who had not been diagnosed with cancer in the past five years. Many of the volunteers were members of Li-Fraumeni families who had participated in research through Dana-Farber and the NCI for many years.

The combined PET/CT images revealed thyroid cancer in a 31-year-old breast cancer survivor and in a 48-year-old survivor of breast cancer and a childhood sarcoma. In addition, a 36-year-old man with no cancer history was found to have a tumor at the junction of his esophagus and stomach. All were given potentially curative treatments, the researchers said. Subjects are currently being followed one year later.

Whether earlier detection of tumors in LFS patients will translate into increased survival remains to be shown in longer-term studies, the scientists said. Another uncertainty is whether the potential benefit from periodic screening would outweigh the risks that the radiation exposure might trigger cancers in the cancer-prone LFS patients. Each PET/CT scan exposes the individual to an amount of radiation that is half of the allowable annual limit for a worker in the radiation industry, according to the paper. Still more questions exist about when to begin screening with imaging or colonoscopy in childhood, adolescence or adulthood.

"We will need to be cautious about the radiation issue, and to determine what is best for the patients in terms of a screening schedule," said Serena Masciari, MD, lead author. "We also need to know if there is a high rate of false-positive findings from screening that would have to be followed up," she added.

In addition to Li and Fraumeni, other authors include Lisa R. Diller, MD, Iryna Rastarheyva, MD, Jeffrey Yap, PhD, Katherine Schneider, MPH, and Lisa DiGianni, PhD, all of Dana-Farber, and Sapna Syngal, MD, of Dana-Farber and Brigham and Women's Hospital.

The research was supported by the Perini Family Survivor Center at Dana-Farber, the Swim Across America Foundation, and the Starr Foundation.


Story Source:

The above story is based on materials provided by Dana-Farber Cancer Institute. Note: Materials may be edited for content and length.


Cite This Page:

Dana-Farber Cancer Institute. "Scans Spot Hidden Tumors In Rare Cancer Syndrome." ScienceDaily. ScienceDaily, 21 March 2008. <www.sciencedaily.com/releases/2008/03/080318160308.htm>.
Dana-Farber Cancer Institute. (2008, March 21). Scans Spot Hidden Tumors In Rare Cancer Syndrome. ScienceDaily. Retrieved December 18, 2014 from www.sciencedaily.com/releases/2008/03/080318160308.htm
Dana-Farber Cancer Institute. "Scans Spot Hidden Tumors In Rare Cancer Syndrome." ScienceDaily. www.sciencedaily.com/releases/2008/03/080318160308.htm (accessed December 18, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, December 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Kids Die While Under Protective Services

Kids Die While Under Protective Services

AP (Dec. 18, 2014) As part of a six-month investigation of child maltreatment deaths, the AP found that hundreds of deaths from horrific abuse and neglect could have been prevented. AP's Haven Daley reports. (Dec. 18) Video provided by AP
Powered by NewsLook.com
Dads-To-Be Also Experience Hormone Changes During Pregnancy

Dads-To-Be Also Experience Hormone Changes During Pregnancy

Newsy (Dec. 18, 2014) A study from University of Michigan researchers found that expectant fathers see a decrease in testosterone as the baby's birth draws near. Video provided by Newsy
Powered by NewsLook.com
Prenatal Exposure To Pollution Might Increase Autism Risk

Prenatal Exposure To Pollution Might Increase Autism Risk

Newsy (Dec. 18, 2014) Harvard researchers found children whose mothers were exposed to high pollution levels in the third trimester were twice as likely to develop autism. Video provided by Newsy
Powered by NewsLook.com
UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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