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Mutation of the BAP1 gene in malignant mesothelioma: a diagnostic evaluation

Evaluation of the identification of a genetic mutation and its association with malignant pleural mesothelioma suggests diagnostic utility, as Justine Ellis and colleagues from East Lancashire and MMU explain.

The diagnosis of malignant mesothelioma can be problematic due to the lack of a specific marker. Immunohistochemistry (IHC) is used to help distinguish between benign and malignant mesothelial proliferations; however, sometimes the results are equivocal and samples are sent away to test for the homozygous deletion of the CDKN2A (p16) gene using fluorescence in situ hybridisation (FISH), which both increases costs and turnaround times. Loss of BRCA1-associated protein 1 (BAP1), due to mutation, has been implicated in up to 86% of cases of malignant mesothelioma, and studies suggest IHC to be a useful tool to identify the loss of BAP1.1

This study aims to evaluate the utility of BAP1 IHC at East Lancashire Hospitals NHS Trust (ELHT), first to see if loss of BAP1 (a negative marker) could be identified, and second whether or not this could be used as an alternative to molecular testing to decrease turnaround times and support and improve the diagnosis of malignant mesothelioma.

Materials and methods

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