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Published on: July 25, 2019
Well-differentiated papillary mesothelioma: clustering in a Portuguese family with a germline BAP1 mutation
C Ribeiro1, S Campelos, C S Moura
1Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal. carlafarinharibeiro@gmail.com
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.
Insights
Well-differentiated papillary mesothelioma (WDPM) in siblings, linked to a BAP1 germline mutation, highlights a new spectrum of associated cancers. This finding suggests hereditary factors influence WDPM development.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Well-differentiated papillary mesothelioma (WDPM) is a rare epithelioid mesothelioma variant with a favorable prognosis.
- WDPM typically affects women of reproductive age, often involving the peritoneum without asbestos exposure.
- Optimal WDPM management, including chemotherapy, is not yet established.
Observation:
- Two sisters presented with WDPM; one with pleural and peritoneal involvement, the other with peritoneal WDPM and uveal melanoma.
- Neither patient had a history of asbestos or mineral carcinogen exposure.
- Genetic analysis revealed a positive germline BAP1 mutation in both siblings.
Findings:
- This is the first reported instance of WDPM in siblings with a concurrent germline BAP1 mutation.
- The study identifies a familial cancer syndrome associated with BAP1 mutations, extending beyond previously known malignancies.
- The presence of both WDPM and uveal melanoma in one sibling further broadens the clinical spectrum linked to BAP1.
Implications:
- Germline BAP1 mutations should be considered in patients with WDPM, especially in familial cases or those with additional BAP1-associated tumors.
- This discovery may lead to improved genetic counseling and targeted screening for families with BAP1 mutations.
- Understanding the genetic basis of WDPM can inform future therapeutic strategies and diagnostic approaches.
