Researchers at the Mayo Clinic discovered that when the genes PAX3 and MAML3 are combined it leads to chimera (which in genetics means composed of two distinct genetic types) that causes biphenotypic sinonasal sarcoma, a rare malignant tumor forming in the nasal structures. If detected late, it can pose surgery problems as it can spread across the entire face. The tumor starts in the nose and can spreads to the rest of the face, usually from each side of the nostrils.
According to the researchers, an operation to remove this particular tumor would require a disfiguring facial surgery. However, there are certain cancer drugs that can target it.
After two Mayo Clinic pathologists noticed something strange about a tumor sample they were examining, the research on this cancer began in 2004. They collected data on the cancer in 2009 after they had seen it a few more times and by 2012 they published their discovery.
"It's unusual that a condition or disease is recognized, subsequently studied in numerous patients, and then genetically characterized all at one place," said Dr. Andre Oliveira, who sub specializes in molecular genetics of sarcomas, in the press release. "Usually these things happen over a longer period of time and involve separate investigators and institutions."
Previous medical records at the Mayo Clinic revealed that a patient had in fact this particular cancer in 1956. After Dr Oliveira found the identical description in the file, he located the original patient's tumor samples from 1956 at the clinic's bio repositories.
The researchers said that they were interested in this cancer's potential as a disease model. It's rare composition could lead to a better understanding of other cancers such as alveolar rhabdomyosarcoma, a common cancer found in children that has some similarities to the PAX3-MAML3 chimera.
The Mayo Clinic's most recent study in SNS, 'Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma,' was published in the journal Nature Genetics.