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New Form of Cancer Discovered

Update Date: Jun 11, 2014 07:38 AM EDT

PAX3 and MAML3 are two harmless genes, but when these two combine during an abnormal but recurring chromosomal mismatch, they can be dangerous. The combination results into chimera - a gene that is half of each - causing biphenotypic sinonasal sarcoma. 

The tumor usually begins in the nose and eventually infiltrates the rest of the face. For saving the individual, a disfiguring surgery is required. 

"It's unusual that a condition or disease is recognized, subsequently studied in numerous patients, and then genetically characterized all at one place," said Mayo Clinic pathologists Andre Oliveira, M.D., Ph.D., who sub-specializes in the molecular genetics of sarcomas, according to the press release. 

"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."

Researchers also believe that the discovery has the 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," added Mayo Clinic molecular biologist and co-author Jennifer Westendorf, Ph.D, in the press release. "Our findings may also lead to a better understanding of this pediatric disease for which, unfortunately, there is no specific treatment."

The research has been detailed in the current issue of Nature Genetics. 

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