Your face or your life? Cancer takes the nose and infiltrates the rest of the face

A new study describes the genetic structure of a facial tumor that requires surgery disfiguring the patient to save his life 

The Mayo Clinic in the United States reported the discovery of a facial tumor result of combining the genes PAX3 and MAML3, which alone do not cause problems, but together they can cause cancer in the nose can spread all over her face disfigured and whose surgery the rest of the face. 

The publication of the current issue of Nature Genetics is said that after the initiation of the investigation in 2004, scientists discovered that clinic in 2012 and defined a new type of tumor never before described, and now informed the medical community about the "nature of the beast." 



Ie on "the genetic structure and molecular signature of such cancer, which is rarely recognized and apparently 75% of times attacks women." 

In the publication, they explained that this is a rare cancer, but it is unknown how much, because most of the cases examined were initially diagnosed with other cancers. 

With the advancement of research scientists were able to identify first and then characterize it, thanks to the Mayo Clinic is considered one of the largest cancer centers for the diagnosis and treatment of sarcoma. 

The authors noted that this tumor usually begins in the nose and then infiltrate the rest of the face, making it necessary to perform surgery disfiguring the patient's face to save his life. 

Thanks to research by pathologists André Oliveira and Jean Lewis to describe the molecular composition of this strange tumor, now you can run several existing drugs against this cancer. 

Oliveira, a specialist in molecular genetics of sarcoma, noted that "it is unusual in the same institution a condition or disease is recognized," while highlighting that this discovery "is only the tip of the iceberg, for who knows everything our repositories allow you to discover. "

Although until 2009 formally informed about cancer of this type, the investigation of medical records at the Mayo Clinic revealed that in 1956 there was a patient whose cancer was described identically in medical notes found in the database CT and microscopic analysis confirmed. 

He noted that apart from knowing more about this rare cancer, its mechanisms and the possibility of drug treatment, the discovery also of interest to scientists because of the potential for this disease serve as a model. 

In this regard, molecular biologist and co-author of the work, Jennifer Westendorf, said: "The Chimera (compound gene) PAX3-MAML3 identified in this cancer has some similarities with a unique protein discovered in alveolar rhabdomyosarcoma, or most common type of childhood cancer. "


The specialist noted that these findings may allow better understanding of this pediatric disease for which, unfortunately, there is no specific treatment.

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