Discovery of genetic biomarker could improve diagnosis and treatment of cancer of the esophagus

November 13, 2000

Researchers at the University of Maryland School of Medicine and the University of Southern California have discovered a genetic biomarker that may help doctors to better diagnose and treat cancer of the esophagus, one of the most aggressive and deadly forms of cancer. The biomarker is an altered gene that can be detected and measured in the tumor itself and in the patient's bloodstream.

The research findings, published in the November 15th issue of the Journal of the National Cancer Institute, will help doctors more accurately determine the stage of the cancer, monitor the effectiveness of treatment, and check for a recurrence of disease.

"We hope our research will eventually lead to a dramatic increase in the survival rate for esophageal cancer," says Stephen J. Meltzer, M.D., professor of Medicine at the University of Maryland School of Medicine in Baltimore, and the study's senior investigator. "Although the treatment and understanding of this devastating disease is improving, more than 70 percent of patients die within three years of diagnosis."

Esophageal cancer is a malignant cell growth in the lining of the esophagus, the tube that connects the throat and the stomach. Risk factors for esophageal cancer include smoking, alcohol abuse, and long-term inflammation or irritation, such as chronic gastroesophageal reflux disease (GERD), a severe form of heartburn.

By analyzing tumor tissue DNA from patients diagnosed with two types of esophageal cancer, researchers found that the APC gene--normally responsible for suppressing cancer--had been deactivated. Within tumor tissues, the altered gene was found in 92 percent of patients diagnosed with esophageal adenocarcinoma, and in 50 percent of patients with squamous cell carcinoma of the esophagus.

The altered APC gene was also found in tissues from 40 percent of patients with Barrett's esophagus, a pre-cancerous condition caused by chronic severe reflux disease. In Barrett's esophagus, the normal lining of the esophagus is replaced by abnormal tissue. No altered genes were found in normal esophageal tissues.

"Gene alterations can occur randomly and as a result of exposure to carcinogens," says Peter V. Danenberg, Ph.D., professor of Biochemistry and Molecular Biology at the University of Southern California, and co-investigator. "But tumor cells lack the growth controls found in normal cells."

Dr. Meltzer and his colleagues have developed a blood test to detect the presence and the amount of altered APC genes in the bloodstream. "When high levels of the altered gene were found in the bloodstream, the survival rate was poor," says Dr. Meltzer, who is also director of the Aerodigestive Oncology Program at the University of Maryland Greenebaum Cancer Center."Conversely, the prognosis improves dramatically for patients with low or undetectable blood levels of the altered gene."

In newly diagnosed cases, this information may help doctors to more accurately determine the extent of the cancer, and decide on an appropriate course of treatment. For patients who have already been treated, the test could be used to detect a recurrence or to help reassure patients who are cancer-free. However, Dr. Meltzer cautioned that more research is needed to confirm the potential value of the blood test before it can be used in a clinical setting.

The American Cancer Society predicts that there will be more than 12,000 new cases of esophageal cancer diagnosed in the United States this year. About 12,000 people will die of the disease this year. Some countries such as Iran, northern China, India, and southern Africa, have rates that are 10 to 100 times higher than that of the United States.

"We hope our research will ultimately help improve the quality of life for those who suffer from esophageal cancer and eventually lead to better methods of early detection and treatment," says Dr. Meltzer. ###
Contact: Larry Roberts(
Ellen Beth Levitt (

University of Maryland Medical Center

Related Cancer Articles from Brightsurf:

New blood cancer treatment works by selectively interfering with cancer cell signalling
University of Alberta scientists have identified the mechanism of action behind a new type of precision cancer drug for blood cancers that is set for human trials, according to research published in Nature Communications.

UCI researchers uncover cancer cell vulnerabilities; may lead to better cancer therapies
A new University of California, Irvine-led study reveals a protein responsible for genetic changes resulting in a variety of cancers, may also be the key to more effective, targeted cancer therapy.

Breast cancer treatment costs highest among young women with metastic cancer
In a fight for their lives, young women, age 18-44, spend double the amount of older women to survive metastatic breast cancer, according to a large statewide study by the University of North Carolina at Chapel Hill.

Cancer mortality continues steady decline, driven by progress against lung cancer
The cancer death rate declined by 29% from 1991 to 2017, including a 2.2% drop from 2016 to 2017, the largest single-year drop in cancer mortality ever reported.

Stress in cervical cancer patients associated with higher risk of cancer-specific mortality
Psychological stress was associated with a higher risk of cancer-specific mortality in women diagnosed with cervical cancer.

Cancer-sniffing dogs 97% accurate in identifying lung cancer, according to study in JAOA
The next step will be to further fractionate the samples based on chemical and physical properties, presenting them back to the dogs until the specific biomarkers for each cancer are identified.

Moffitt Cancer Center researchers identify one way T cell function may fail in cancer
Moffitt Cancer Center researchers have discovered a mechanism by which one type of immune cell, CD8+ T cells, can become dysfunctional, impeding its ability to seek and kill cancer cells.

More cancer survivors, fewer cancer specialists point to challenge in meeting care needs
An aging population, a growing number of cancer survivors, and a projected shortage of cancer care providers will result in a challenge in delivering the care for cancer survivors in the United States if systemic changes are not made.

New cancer vaccine platform a potential tool for efficacious targeted cancer therapy
Researchers at the University of Helsinki have discovered a solution in the form of a cancer vaccine platform for improving the efficacy of oncolytic viruses used in cancer treatment.

American Cancer Society outlines blueprint for cancer control in the 21st century
The American Cancer Society is outlining its vision for cancer control in the decades ahead in a series of articles that forms the basis of a national cancer control plan.

Read More: Cancer News and Cancer Current Events is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to