Featured Research

from universities, journals, and other organizations

Gene in eye melanomas linked to good prognosis

Date:
January 16, 2013
Source:
Washington University in St. Louis
Summary:
Melanomas that develop in the eye often are fatal. Now, scientists report they have identified a mutated gene in melanoma tumors of the eye that appears to predict a good outcome.

A melanoma that develop in the eye (above) often are fatal. But uveal melanoma tumors that have mutations in the SF3B1 gene are more likely to have a good outcome, new research suggests.
Credit: Harbour Laboratory

Melanomas that develop in the eye often are fatal. Now, scientists at Washington University School of Medicine in St. Louis report they have identified a mutated gene in melanoma tumors of the eye that appears to predict a good outcome.

The research is published in the advance online edition of Nature Genetics.

"We found mutations in a gene called SF3B1," says senior author Anne Bowcock, PhD, professor of genetics. "The good news is that these mutations develop in a distinct subtype of melanomas in the eye that are unlikely to spread and become deadly."

Eye tumors called uveal melanomas occur in about 2,000 patients a year, making up about 5 percent of all melanomas. In many patients, there are no symptoms, and the tumors become fatal when they spread to the liver.

Several years ago, Bowcock and the study's lead author, J. William Harbour, MD, a former Washington University eye surgeon who is now at the University of Miami, identified a commonly mutated gene, BAP1, in patients with uveal melanomas.

They found BAP1 alterations in about 80 percent of uveal melanomas with a poor prognosis, called class II tumors. About 75 percent of patients with these tumors die within five years, a sharp contrast to the generally favorable outcomes of patients whose tumors don't have BAP1 mutations, called class I.

For the new study, Bowcock and her colleagues initially sequenced the DNA of uveal melanomas from 18 patients whose BAP1 status was already known. Seven had no BAP1 mutations (class I tumors), and 11 had BAP1 mutations (class II tumors).

The researchers' analysis uncovered alterations in the SF3B1 gene in three of the patients.

"This is the first time mutations in this gene have been found in uveal melanoma," says Bowcock, who also is a professor of pediatrics and of medicine.

As part of the current study, the researchers also looked for SF3B1 mutations in uveal melanoma tumors from 102 patients, finding it in nearly 20 percent of them. Mutations in the gene were linked to favorable features, including a younger age at diagnosis and a far lower metastasis rate.

Interestingly, SF3B1 mutations always occurred at the same site of the gene. And the SF3B1 and BAP1 mutations were found to be almost mutually exclusive, meaning that if patients had a mutation in one of the genes, they were unlikely to have a mutation in the other.

"This suggests mutations in these genes may represent alternative pathways in tumor progression," Bowcock says.

The SF3B1 gene also has been reported recently by other researchers to be mutated in a pre-leukemia illness called myelodysplastic syndrome. For these patients, SF3B1 mutations mean the condition is less likely to develop into a full-blown leukemia. Changes in the SF3B1 gene also have been found in chronic lymphocytic leukemia and less frequently in breast cancer and other solid tumors. The gene's link to prognosis is unclear for these cancers.

Normally, the SF3B1 gene is involved in converting DNA's chemical cousin, RNA, into messenger RNA. This messenger molecule carries DNA's code and serves as a template for making proteins. The researchers don't yet understand how mutations in this gene are involved in cancer but it's the next step of their research.

"We want to understand the functional consequences of mutations in SF3B1," Bowcock says. "How are changes in this gene linked to cancer development? This is the fourth gene known to be mutated in uveal melanoma along with BAP1 and the genes GNAQ and GNA11. A complete understanding of the molecular basis of this tumor will be invaluable in predicting prognosis and in the identification and development of novel treatments for this cancer."

The research is supported by grants from the National Institutes of Health (NIH) (R01 CA16187001 and CA12597007), the Melanoma Research Alliance, the Melanoma Research Foundation, the Tumori Foundation , Research to Prevent Blindness, Inc., and awards to the Department of Ophthalmology and Visual Sciences at Washington University from a Research to Prevent Blindness, Inc., unrestricted grant and also the NIH Vision Core grant (P30 EY02687c) and an NIH training grant (5 T32 AR007279-32).


Story Source:

The above story is based on materials provided by Washington University in St. Louis. The original article was written by Caroline Arbanas. Note: Materials may be edited for content and length.


Journal Reference:

  1. J William Harbour, Elisha D O Roberson, Hima Anbunathan, Michael D Onken, Lori A Worley, Anne M Bowcock. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nature Genetics, 2013; DOI: 10.1038/ng.2523

Cite This Page:

Washington University in St. Louis. "Gene in eye melanomas linked to good prognosis." ScienceDaily. ScienceDaily, 16 January 2013. <www.sciencedaily.com/releases/2013/01/130116163534.htm>.
Washington University in St. Louis. (2013, January 16). Gene in eye melanomas linked to good prognosis. ScienceDaily. Retrieved August 23, 2014 from www.sciencedaily.com/releases/2013/01/130116163534.htm
Washington University in St. Louis. "Gene in eye melanomas linked to good prognosis." ScienceDaily. www.sciencedaily.com/releases/2013/01/130116163534.htm (accessed August 23, 2014).

Share This




More Health & Medicine News

Saturday, August 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Drug Used To Treat 'Ebola's Cousin' Shows Promise

Drug Used To Treat 'Ebola's Cousin' Shows Promise

Newsy (Aug. 21, 2014) An experimental drug used to treat Marburg virus in rhesus monkeys could give new insight into a similar treatment for Ebola. Video provided by Newsy
Powered by NewsLook.com
Two US Ebola Patients Leave Hospital Free of the Disease

Two US Ebola Patients Leave Hospital Free of the Disease

AFP (Aug. 21, 2014) Two American missionaries who were sickened with Ebola while working in Liberia and were treated with an experimental drug are doing better and have left the hospital, doctors say on August 21, 2014. Duration: 01:05 Video provided by AFP
Powered by NewsLook.com
Cadavers, a Teen, and a Medical School Dream

Cadavers, a Teen, and a Medical School Dream

AP (Aug. 21, 2014) Contains graphic content. He's only 17. But Johntrell Bowles has wanted to be a doctor from a young age, despite the odds against him. He was recently the youngest participant in a cadaver program at the Indiana University NW medical school. (Aug. 21) Video provided by AP
Powered by NewsLook.com
American Ebola Patients Released: What Cured Them?

American Ebola Patients Released: What Cured Them?

Newsy (Aug. 21, 2014) It's unclear whether the American Ebola patients' recoveries can be attributed to an experimental drug or early detection and good medical care. Video provided by Newsy
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