Commentary: Case report: Mesothelioma and BAP1 tumor predisposition syndrome: implications for public health

Our plain-English summary of Commentary: Case report: Mesothelioma and BAP1 tumor predisposition syndrome: implications for public health, by C. Sassorossi, M. Chiappetta, M.T. Congedo, et al (Frontiers in Oncology, 2023).

The study

• Authors: C. Sassorossi, M. Chiappetta, M.T. Congedo, S. Flamini, A. Campanella, J. Evangelista, R. Iuliano, L. Boccuto, F. Lococo
• Journal: Frontiers in Oncology
• Published: 2023;13:1279786
• Type of article: Comment
• Read it: PubMed · Publisher · Free full text

In plain English

This commentary responded to a 2022 case report by Vimercati and colleagues; it is not a new study. That report described pleural mesothelioma in an 83-year-old man with environmental and occupational asbestos exposure, whom its authors suspected of having BAP1 tumor predisposition syndrome (BAP1-TPDS). The commentary authors argued that the case did not meet the criteria for typical BAP1-TPDS. Citing their own review, they noted that BAP1-related mesothelioma begins on average around age 55. They reported that 90% of patients with the syndrome have a family history of at least two of its associated tumors. This man's family history included a son with colorectal adenocarcinoma at 32 and liver, laryngeal and lung cancer; the type of liver cancer was not stated. His tumor was biphasic, while BAP1-related mesotheliomas are almost exclusively epithelioid. They wrote that his long-lasting asbestos exposure was likely the cause of his mesothelioma. He had also spent one year in Casale Monferrato, known in Italy for Eternit, an asbestos cement company. The BAP1 variant found in his blood was classified as of uncertain significance, and the authors saw insufficient evidence that it caused disease. The authors called for deeper clinical and genetic characterization of suspected BAP1-TPDS cases.

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: General commentary on a published case report (no new data collected)
• Who was studied: The single patient described in the case report by Vimercati and colleagues: an 83-year-old man with pleural mesothelioma, a personal history of uveal melanoma and clear cell renal carcinoma, and a son with colorectal adenocarcinoma diagnosed at 32
• Exposure: Environmental and professional (occupational) asbestos exposure. The commentary separately notes that the patient spent one year in Casale Monferrato, known in Italy for the presence of Eternit, a company producing asbestos cement; it does not say what exposure occurred during that year
• Main results:
  • The authors argued that the patient's age at mesothelioma diagnosis (83) was not consistent with BAP1-related pleural mesothelioma, whose mean age of onset is around 55 years according to their review
  • The authors stated that 90% of patients with BAP1-TPDS have a family history of at least two of the syndrome's associated tumors, which they listed as including hepatocellular carcinoma among others
  • The family history reported for this patient included his son's colorectal adenocarcinoma diagnosed at 32 years, and liver carcinoma, laryngeal carcinoma and lung cancer; the commentary does not say what type of liver carcinoma it was
  • In the authors' view, the patient's long-lasting environmental and professional asbestos exposure was likely the cause of his mesothelioma
  • The patient's tumor was biphasic mesothelioma, whereas mesotheliomas related to BAP1-TPDS are almost exclusively epithelioid type
  • The patient's BAP1 variant (c.535C>T in exon 7, substituting tryptophan for arginine at position 179) was classified as a variant of uncertain significance, and the authors considered the evidence insufficient to support a causative role
  • The authors pointed out that a second son shown as a BAP1 mutation carrier in the original family tree was not discussed in the case report, and that his age was not given
• The authors' conclusion: The authors recommended deeper clinical and genetic characterization in studies of suspected BAP1-TPDS cases, genetic testing for first-degree relatives, and validated screening and surveillance guidelines

Topics

Medical terms in this study, explained in our Lexicon: Mesothelioma, BAP1 Tumor Predisposition Syndrome.

Related studies

• The genetic susceptibility in the development of malignant pleural mesothelioma: somatic and germline variants, clinicopathological features and implication in practical medical/surgical care: a narrative review — M.T. Congedo, E.C. West, et al. (2024)
• Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases — K. Rai, R. Pilarski, et al. (2016)
• Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines — C. Chau, R. van Doorn, et al. (2019)
• The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment — A. Battaglia (2014)
• Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience — M. Sculco, M. La Vecchia, et al. (2022)
• Histologically Diverse BAP1-Deficient Melanocytic Tumors in a Patient With BAP1 Tumor Predisposition Syndrome — A. Louw, J. Creaney, et al. (2020)

Browse more research in Frontiers in Oncology, or return to medical research.