A team of scientists from the Mayo Clinic in Rochester (USA) has managed to identify a new form of cancer of a rather rare type . The new tumor is part of the so-called sarcomas , or cancers that affect a connective tissue in the body, such as bones or muscles, and that are usually rare.
The new type of cancer in question relies on two harmless genes in their own right: PAX3 and MAML3 . However, the study, published in the journal Nature Genetics , explains that if these two genes are combined during an abnormal but recurrent chromosome mismatch, they become tremendously dangerous . The result of the combination of both genes causes a genetic chimera: a gene that is made up of half the structure of each one and that causes biphenotypic sinonasal sarcoma. This tumor usually appears in the nose and can infiltrate the rest of the face.
The research dates back to 1956 , the date on which there is a registry of this new type of cancer. But it would take until 2009 for it to be formally identified. Later, in 2012, the experts published their discovery, defining a class of tumor that had not been previously described. Now, in 2014, there is official communication to the scientific community of the genetic structure and molecular signature of this rare type of cancer that seems to attack women 75% more than men.
“Our findings may also lead to a better understanding of alveolar rhabdomyosarcoma, a pediatric disease for which, unfortunately, there is no specific treatment,” says Jennifer Westendorf, co-author of the study.
