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  • Writer's pictureKirk Hartley

Genomics and Mesothelioma – A New Example of Mesotheliomas Linked to the BAP1 Mutation, as Opp

As with all things cancer, genomics are increasingly important for understanding the how and why of mesotheliomas. Consider, for example, the following abstract from an article reporting on papillary mesotheliomas in two sisters with a familial germline (inherited) mutation of the BAP1 gene, but no known personal or familial exposure to asbestos. Note the further tip-off of a uveal melanoma in one sister; those tumors also are associated with the BAP1 mutation. The full article is online but pay per view. The abstract states:


Background Well-differentiated papillary mesothelioma (WDPM) is a rare variant of epithelioid mesothelioma and is considered to be associated with good prognosis due to its clinically indolent behavior and long survival. Most reported cases involve the peritoneum of women at reproductive age with no history of exposure to asbestos, with pleural involvement being less common. The optimal management, including the role of chemotherapy in the treatment of WDPM, remains unsettled.

Patients and methods The authors describe two cases of WDPM in women of the same family (siblings); the elder with WDPM of the pleura and peritoneum with a 12-year survival period and the younger with a WDPM of the peritoneum diagnosed in 2011 and uveal melanoma diagnosed in 2012. Neither patient had any known exposure to asbestos fibers or any other mineral carcinogens.

Results After the concurrent diagnosis of WDPM and uveal melanoma, genetic diagnosis was carried out taking into consideration that these two malignancies were recently associated with hereditary BAP1 gene mutations and it was positive for both the patients.

Conclusions To our knowledge, this is the first description of WDPM in two siblings who also presented with a germline BAP1 mutation. This article provides evidence of the wide clinical spectrum of cancer susceptibility associated with a BAP1 germline mutation."

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