Awareness of these syndromic predispositions can prompt genetic counseling and testing...
Raleigh, NC (PRWEB) January 31, 2014
Surviving Mesothelioma is reporting on a newly published report from pathologists with Melanoma Institute Australia. The report details the case of an Australian woman diagnosed with both melanoma skin cancer and peritoneal mesothelioma.
Noting that previous studies have found a “syndromic association” between the two diseases, the researchers describe how the woman was diagnosed with skin cancer on her knee in 2010 and was diagnosed with metastatic (spreading) melanoma in her groin lymph nodes three years later. As they were examining her for the extent of melanoma, they noticed a nodule on the wall of her abdomen. A biopsy revealed that, instead of the expected melanoma, the nodule was actually peritoneal mesothelioma, a rare malignancy usually associated with asbestos exposure.
Although the patient had no history of asbestos exposure, her doctors found more suspicious lesions in her pelvis and on her ovaries and tested them, as well. Writing on their findings in the journal Pathology, they report, “Mesothelial markers [used to identify mesothelioma] were consistently positive while those for melanoma and serous carcinoma were negative.”
While it is unusual to see these two cancers in the same patient, it is not unheard of. Melanoma and mesothelioma can share a common genetic origin – a mutation on the BAP1 gene. In 2011, NIH-funded research was the first to report on the association between loss of the tumor suppressor BAP1 and an entire “family” of cancers including mesothelioma, breast, ovarian, pancreatic and renal cancers. The BAP1 mutation not only accounted for a higher-than-normal incidence of mesothelioma in some families, but was also found in about 25 percent of mesothelioma patients who had no family history of the disease. Another study also linked BAP1 mutation with melanoma of the eye.
The authors of the newest report say their case highlights how important it is for doctors to be aware of possible common genetic links such as that between melanoma and mesothelioma. “Awareness of these syndromic predispositions can prompt genetic counseling and testing and with further research, identify prognostic indicators and therapeutic targets,” they conclude.
The report was published in a recent issue of Pathology. (Gatt, A, et al, “Peritoneal epithelioid mesothelioma in a patient with metastatic melanoma – an association seen in BAP1 mutations”, February 2014, Pathology, http://www.ncbi.nlm.nih.gov/pubmed/24457672)
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