Featured Research

from universities, journals, and other organizations

New form of cancer discovered: Potentially disfiguring facial tumor caused by chromosomal chimera

Date:
June 10, 2014
Source:
Mayo Clinic
Summary:
This is the story of two perfectly harmless genes. By themselves, PAX3 and MAML3 don’t cause any problems. However, when they combine during an abnormal but recurring chromosomal mismatch, they can be dangerous. The result is a chimera — a gene that is half of each — and that causes biphenotypic sinonasal sarcoma. The tumor usually begins in the nose and may infiltrate the rest of the face, requiring disfiguring surgery to save the individual.

This is the story of two perfectly harmless genes. By themselves, PAX3 and MAML3 don't cause any problems. However, when they combine during an abnormal but recurring chromosomal mismatch, they can be dangerous. The result is a chimera -- a gene that is half of each -- and that causes biphenotypic sinonasal sarcoma. The tumor usually begins in the nose and may infiltrate the rest of the face, requiring disfiguring surgery to save the individual. Because Mayo Clinic pathology researchers have now described the molecular makeup of the rare tumor, several existing cancer drugs may be targeted against it.

The findings appear in the current issue of Nature Genetics.

In 2004, Mayo Clinic pathologists Andre Oliveira, M.D., Ph.D., and Jean Lewis, M.D., first noticed something unusual about a tumor sample they were analyzing under the microscope. By 2009, they had seen the same pathology several times and had begun collecting data. In 2012, they and a team of Mayo collaborators published their discovery and defined a new class of tumor not previously described. Now, less than two years later, they are informing the medical community of the "nature of the beast" -- the genetic structure and molecular signature of this seldom-recognized type of cancer, which seems to strike women 75 percent of the time. It is rare, but how rare no one knows as most of the cases they examined were initially diagnosed as various other types of cancer. They were able to first identify and then characterize it because Mayo Clinic is considered one of the world's largest referral centers for sarcoma diagnosis and treatment.

"It's unusual that a condition or disease is recognized, subsequently studied in numerous patients, and then genetically characterized all at one place," says Dr. Oliveira, who subspecializes in the molecular genetics of sarcomas. "Usually these things happen over a longer period of time and involve separate investigators and institutions. Because of Mayo's network of experts, patient referrals, electronic records, bio repositories, and research scientists, it all happened here. And this is only the tip of the iceberg. Who knows what is in our repositories waiting to be discovered."

First Seen Nearly 60 Years Earlier

While the cancer wasn't formally identified until 2009, a subsequent search of Mayo Clinic's medical records showed that a Mayo patient had the cancer in 1956. The identical description was found in physician notes within Mayo's computerized database and confirmed with careful microscopic analysis. Dr. Oliveira took his investigation one step further and located that patient's original tumor samples kept all those years in Mayo's bio repositories. His analysis confirmed that the tumor possessed this same genetic chimera. In a way, Mayo Clinic had discovered the same rare cancer twice. The notes from the original physician added to the findings of the more recent discovery. For Dr. Oliveira, it was a surprising but not unheard of "collaboration" with a Mayo colleague from two generations ago.

Significance of the Discovery

Other than the increased knowledge about this rare cancer, its mechanisms and the potential for a treatment drug, researchers also are interested in the discovery because of its potential as a disease model.

"The PAX3-MAML3 chimera we identified in this cancer has some similarities to a unique protein found in alveolar rhabdomyosarcoma, a common cancer found in children," says Mayo Clinic molecular biologist and co-author Jennifer Westendorf, Ph.D. "Our findings may also lead to a better understanding of this pediatric disease for which, unfortunately, there is no specific treatment."

The research was supported by Mayo Clinic and the National Institutes of Health. Other co-authors include Xiaoke Wang; Krista Bledsoe; Rondell Graham, M.B.B.S.; Yan Asmann, Ph.D.; David Viswanatha, M.D.; Jean Lewis, M.D.; Jason Lewis, M.D.; Margaret Chou, Ph.D.; Michael Yaszemski, M.D., Ph.D.; and Jin Jen, M.D., Ph.D., all of Mayo Clinic.


Story Source:

The above story is based on materials provided by Mayo Clinic. The original article was written by Bob Nellis. Note: Materials may be edited for content and length.


Journal Reference:

  1. Xiaoke Wang, Krista L Bledsoe, Rondell P Graham, Yan W Asmann, David S Viswanatha, Jean E Lewis, Jason T Lewis, Margaret M Chou, Michael J Yaszemski, Jin Jen, Jennifer J Westendorf, Andrι M Oliveira. Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma. Nature Genetics, 2014; DOI: 10.1038/ng.2989

Cite This Page:

Mayo Clinic. "New form of cancer discovered: Potentially disfiguring facial tumor caused by chromosomal chimera." ScienceDaily. ScienceDaily, 10 June 2014. <www.sciencedaily.com/releases/2014/06/140610152743.htm>.
Mayo Clinic. (2014, June 10). New form of cancer discovered: Potentially disfiguring facial tumor caused by chromosomal chimera. ScienceDaily. Retrieved September 18, 2014 from www.sciencedaily.com/releases/2014/06/140610152743.htm
Mayo Clinic. "New form of cancer discovered: Potentially disfiguring facial tumor caused by chromosomal chimera." ScienceDaily. www.sciencedaily.com/releases/2014/06/140610152743.htm (accessed September 18, 2014).

Share This



More Health & Medicine News

Thursday, September 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

The Cost of Ebola

The Cost of Ebola

Reuters - Business Video Online (Sep. 18, 2014) — As Sierra Leone prepares for a three-day "lockdown" in its latest bid to stem the spread of Ebola, Ciara Lee looks at the financial implications of fighting the largest ever outbreak of the disease. Video provided by Reuters
Powered by NewsLook.com
What HealthKit Bug Means For Your iOS Fitness Apps

What HealthKit Bug Means For Your iOS Fitness Apps

Newsy (Sep. 18, 2014) — Apple has delayed the launch of the HealthKit app platform, citing a bug. Video provided by Newsy
Powered by NewsLook.com
Residents Vaccinated as Haiti Fights Cholera Epidemic

Residents Vaccinated as Haiti Fights Cholera Epidemic

AFP (Sep. 18, 2014) — Haitians receive the second dose of the vaccine against cholera as part of the UN's vaccination campaign. Duration: 00:34 Video provided by AFP
Powered by NewsLook.com
Raw: Elephant Undergoes Surgery in Tbilisi Zoo

Raw: Elephant Undergoes Surgery in Tbilisi Zoo

AP (Sep. 18, 2014) — Grand the elephant has successfully undergone surgery to remove a portion of infected tusk at Tbilisi Zoo in Georgia. British veterinary surgeons used an electric drill to extract the infected piece. (Sept. 18) 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