Clinical and Pathologic Phenotyping of Mesotheliomas Developing in Carriers of Germline BAP1 Mutations

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INTRODUCTION: carriers differed from sporadic, not genetically related, mesotheliomas. METHODS: transmitted in a Mendelian fashion. We characterized these mutations, collected family history, clinical records, prepared family pedigrees, and diagnosed their mesotheliomas. RESULTS: had a florid, diffuse mesothelial hyperplasia often present in both pleural cavities, peritoneum and pericardium. Thoracoscopy and laparoscopy results revealed several multicavity approximately 1 to 3 mm whitish flat lesions, but imaging result was usually negative for cancer. Histology results revealed epithelioid cells lacking BAP1 nuclear staining arranged in tubulopapillary and trabecular architectures, focally invading submesothelial adipose tissue. These findings may lead to the diagnosis of stage IV metastatic mesothelioma. However, we found that these tumors remain indolent for years, and, at this early stage, patients do not require aggressive therapy. We refer to these tumors as "low-grade-germline-mutant-BAP1-associated-mesotheliomas, L-BAM" to distinguish them from aggressive, therapy-resistant, sporadic mesotheliomas. For the 1/3 of patients who developed lesions visible by imaging, surgery, chemotherapy, or a combination of both led to survival of several years, and some were cured. Deep invasion by mesothelioma cells with a solid architecture is rare: these cases have poor survival. CONCLUSIONS: carriers are a different disease, biologically, histologically, and clinically; these patients require a tailored clinical approach.

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