In a new study published in Nature Genetics, researchers from the Mayo Clinic in Rochester, MN, detail the molecular signature and genetic structure of a new form of cancer that begins in the nose - called biphenotypic sinonasal sarcoma.
The research team, including pathologists Dr. Andre Oliveira and Dr. Jean Lewis, say the cancer is caused by a harmful combination of two genes - PAX3 and MAML3.
Individually, each gene is harmless. But when they connect during a recurrent chromosomal translocation - when a piece of one chromosome breaks off and joins another - this results in a PAX3-MAML3 fusion gene that causes biphenotypic sinonasal sarcoma (SNS).
The cancer - that appears to be most common in women - starts in the nose and can spread to the rest of the face, meaning the patient will need disfiguring surgery in order to survive.
But in this latest study, the researchers have uncovered the molecular makeup of the tumor and have found there are many existing cancer drugs that could be used to treat it.
SNS seen almost 60 years ago
Dr. Oliveira and Dr. Lewis first came across SNS in 2004 after uncovering a strange finding in a tumor sample. Over the next 5 years, this odd finding was repeatedly seen, which prompted the investigators to start collecting data.
Through teaming up with other Mayo Clinic researchers in 2012, the investigators first described the previously unknown cancer. In this latest study, the team delved deeper and managed to uncover the cancer's molecular signature and genetic structure.
However, Dr. Oliveira notes that the team was surprised to find that a Mayo Clinic patient from 1956 had SNS - a discovery they made after searching medical records. Dr. Oliveira then accessed Mayo Clinic's biorepositories to assess the patient's original tumor samples. He found that the tumor had the same PAX3-MAML3 fusion gene.
The Mayo Clinic team explains their findings further in the video below:
The investigators say the cancer is rare, but they are unable to determine how rare, since the majority of cases would have been diagnosed as other cancers in the past. But the team says these latest findings will improve understanding of SNS and may lead to new drugs for the cancer.
They note that their discovery has been possible because Mayo Clinic is so specialized in 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.
"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, biorepositories 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."
PAX3-MAML3 fusion gene could be a disease model
In addition, the researchers say their discovery could be useful as a model for other diseases.
For example, they note that the PAX3-MAML3 fusion gene is similar to a gene found in alveolar rhabdomyosarcoma (ARMS) - a common cancer in older children and teenagers that occurs in large muscles of the trunk, arms and legs.
"Our findings may also lead to a better understanding of this pediatric disease for which, unfortunately, there is no specific treatment," says study co-author Jennifer Westendorf, PhD.
In other cancer news, Medical News Today recently reported on a study published in PLOS Medicine, which suggested that the risk of breast cancer may be predicted by the number of skin moles a woman has.
Written by Honor Whiteman