Detecting germline BAP1 mutations in patients with peritoneal mesothelioma: benefits to patient and family members

Our plain-English summary of Detecting germline BAP1 mutations in patients with peritoneal mesothelioma: benefits to patient and family members, by M. Kittaneh, C. Berkelhammer (Journal of Translational Medicine, 2018).

The study

• Authors: M. Kittaneh, C. Berkelhammer
• Journal: Journal of Translational Medicine
• Published: 2018;16(1):194
• Type of article: Case report
• Cited by: 24 articles, as counted by NIH iCite
• Read it: PubMed · Publisher · Free full text

Abstract

Germline mutations in the BRCA-1 associated tumor protein 1 (BAP1) increase susceptibility to mesothelioma and other cancers. We describe a patient with a family history of peritoneal mesothelioma, who developed malignant peritoneal mesothelioma at age 45 in the absence of known asbestos exposure. These findings lead us to hypothesize that the mesothelioma occurred in the setting of germline a BAP1 mutation. This was confirmed by genetic testing. The subsequent therapeutic choices for the patient and testing of at-risk family members highlight the importance of recognizing this genetic syndrome and screening for individuals at high risk.

In plain English

This article, labeled a review by the journal, described one patient and genetic testing of her relatives. Its background and discussion summarized earlier BAP1 research. The patient, a 45-year-old woman, was a non-smoker with no known asbestos exposure. Her sister developed peritoneal mesothelioma at age 29, and a first degree male cousin at 45. Biopsies showed epithelioid malignant mesothelioma, and blood testing found an inherited (germline) BAP1 mutation. She was treated with surgery, chemotherapy inside the abdomen during the operation, and six cycles of cisplatin and pemetrexed. On MRI follow-up, she had no evidence of recurrence 24 months after treatment. Eight family members chose testing; 6 carried the same mutation. Of those 6, 2 were tumor free, 1 had well differentiated papillary mesothelioma, and 3 had other BAP1-related cancers. The authors concluded her early peritoneal mesothelioma resulted from a genetic susceptibility. They stated it was unclear whether low-level environmental exposure to asbestos or other fibers played a role. They recommended BAP1 testing when mesothelioma occurs before age 50, or in patients with multiple relatives affected by mesothelioma or other BAP1-associated cancers.

We wrote this plain-English summary from the full article with the help of AI, and a second AI model checked each sentence against the article. It is not the authors' wording; the abstract and the article are their own account.

What the study did and found

• Design: Case report of a single patient, with genetic testing of family members (the journal labels the article a review)
• Who was studied: One 45-year-old woman, a non-smoker with no known asbestos exposure, whose sister developed peritoneal mesothelioma at age 29 and whose first degree male cousin developed it at age 45; plus 8 relatives who chose genetic testing. The article does not state where or when the patient was treated, apart from the authors' Illinois affiliations.
• Exposure: No known asbestos exposure; the factor studied was a germline BAP1 mutation (chr3.52406884A > G, c.604T > C, p.Trp202Arg)
• Main results:
  • The patient's biopsies showed epithelioid malignant mesothelioma
  • Genetic testing of the patient's blood found a germline BAP1 mutation
  • After surgery, intraoperative chemotherapy and six cycles of cisplatin and pemetrexed, with MRI follow-up every 6 months, the patient had no evidence of recurrence 24 months after treatment
  • Of 8 family members tested, 6 carried the same germline BAP1 mutation
  • Among the 6 carriers, 2 were tumor free, 1 had well differentiated papillary mesothelioma, and 3 had other BAP1-related malignancies
  • All carriers were undergoing annual detailed retinal examinations
• The authors' conclusion: The authors concluded that the patient's early-onset peritoneal mesothelioma, without known asbestos exposure, resulted from a genetic susceptibility. They recommended BAP1 testing for mesothelioma occurring before age 50, or in patients with multiple family members affected by mesothelioma or other cancers associated with germline BAP1 mutations.
• Limitations the authors state:
  • The authors stated it is unclear whether low-level environmental exposure to asbestos or other fibers played a role in the patient's disease

Topics

The National Library of Medicine indexes this study under subjects our site covers: Lung cancer, Mesothelioma, Peritoneal mesothelioma.

Medical terms in this study, explained in our Lexicon: BAP1 Tumor Predisposition Syndrome, Peritoneal Mesothelioma, Germline Mutation, BAP1, Mesothelioma, Asbestos Exposure.

Related studies

• Well-differentiated papillary mesothelioma: clustering in a Portuguese family with a germline BAP1 mutation — C. Ribeiro, S. Campelos, et al. (2013)
• Germline BAP1 mutations predispose to malignant mesothelioma — J.R. Testa, M. Cheung, et al. (2011)
• Germline BAP1 mutations predispose also to multiple basal cell carcinomas — A. de la Fouchardière, O. Cabaret, et al. (2015)
• A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma — K.A. Wadt, L.G. Aoude, et al. (2015)
• CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma — M. Betti, A. Aspesi, et al. (2016)
• Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients — C.M. Cebulla, E.M. Binkley, et al. (2015)

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