Specific skin spots may be an indicator of a person’s increased risk for developing malignant mesothelioma or skin cancer, according to recent discoveries made by researchers at the University of Hawaii.
Researchers say these mole-like tumors identify individuals who have a mutation in the BAP1 gene, which is linked to a higher susceptibility of developing mesothelioma.
This discovery could yield earlier diagnoses and treatments along with other medical opportunities.
“Identifying this gene as a cause of several cancers can tell us who is at risk in a family before the cancer develops,” said Dr. Michele Carbone, a well-known mesothelioma researcher at the University of Hawaii and lead author of the study.
The report is published in the August 30 edition of the Journal of Translational Medicine.
The BAP1 Gene, Moles and Mesothelioma
The BAP1 gene, technically referred to as BRCA1-associated protein 1 gene, is believed to be a tumor suppressor and actively restrains cancer.
When a mutation of this gene occurs, the cancer-suppressing function do not perform properly.
Last year, Carbone was among the research team members that established a relationship between the BAP1 gene mutation and the prevalence of mesothelioma cancer. The team concluded that the mutation was more commonly present among people with mesothelioma, showing an increased risk for developing the cancer.
Building on the prior BAP1 research data, the researchers now believe that physical indicators on the skin demonstrate the presence of mutated BAP1 genes. This indicator, appearing in the form of a mole-like tumor, is referred to as “melanocytic BAP1-mutated atypical intradermal tumors,” or MBAITs.
These skin marks may be the “first clinical manifestation of the BAP1 cancer syndrome,” according to the report.
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The analysis was performed on 118 people from seven unrelated families. Individuals were separated into two groups, those with mutated BAP1 genes, which included 63 people, and those with non-mutated BAP1 genes, which included 55 people.
Those in the mutated-gene group were significantly more likely to have mesothelioma and the MBAIT skin-tumors compared to individuals of the non-mutated group.
The analysis came from information in the PubMed database published between August 2011 and April 2012.
Results yielded definitive relationships between MBAITs, BAP1 gene mutations and mesothelioma.
Carbone and his research colleagues share a patent on a gene-testing process.
The study highlighted that the responsibility of the detection of early manifestations of mesothelioma largely will fall to physicians. However, people who identify new or unusual skin moles should make the new marks clear to their primary care physician or to their dermatologist.
A biopsy and pathology would be required to evaluate the skin sample. Pathologists also would also need to be aware of the specific characteristics that are unique to MBAITs.
These moles, melanocytic tumors and neoplasms can be non-cancerous. In most cases, they are barely elevated or are flat.
Researchers believe this discovery may represent an opportunity for the mesothelioma community.
Earlier Diagnoses & Earlier Treatments
Having an early indicator of a susceptibility to developing mesothelioma empowers physicians to proactively test for mesothelioma.
“We can advise patients to undergo routine exams and genetic testing for early diagnoses and treatment,” said Carbone.
Diagnosing this cancer earlier is significant because it will hopefully provide doctors with more available treatment options before the cancer has metastasized, or spread to other organs.
This doesn’t guarantee a better outcome, but shifts the odds more in the favor of the patient.
Approximately 3,000 mesothelioma cases are diagnosed each year.
As of now, these prognoses are negative and typically involve life expectancies that rarely exceed 18 months.
Survivors can attest to the benefits of an early diagnosis, including the inspiring story of Julie King and her family.