Well-differentiated papillary mesothelioma: clustering in a Portuguese family with a germline BAP1 mutation

Our plain-English summary of Well-differentiated papillary mesothelioma: clustering in a Portuguese family with a germline BAP1 mutation, by C. Ribeiro, S. Campelos, C.S. Moura, et al (Annals of Oncology, 2013).

The study

• Authors: C. Ribeiro, S. Campelos, C.S. Moura, J.C. Machado, A. Justino, B. Parente
• Journal: Annals of Oncology
• Published: 2013;24(8):2147-50
• Type of article: Case report
• Cited by: 39 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Abstract

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.

In plain English

This article is a case report of two sisters in Portugal with well-differentiated papillary mesothelioma (WDPM), a rare subtype of epithelioid mesothelioma. Neither sister had any known history of asbestos exposure. The younger sister, aged 56, was diagnosed in 2011 with WDPM of the peritoneum (the lining of the abdomen). After four cycles of chemotherapy with cisplatinum and pemetrexed, the fluid in her abdomen fully cleared. She was then diagnosed with uveal melanoma, an eye cancer. The older sister had been diagnosed in 1999, at age 44, with malignant pleural and peritoneal epithelioid mesothelioma and had survived 12 years. A review of her biopsies in 2011 led to a diagnosis of WDPM. Their mother died in 1997, and a pathology report from her illness was compatible with epithelioid peritoneal mesothelioma. Blood testing found the same inherited (germline) mutation in the BAP1 gene in both sisters. The authors concluded that this was the first description of WDPM in two related patients and of a connection between a germline BAP1 mutation and WDPM. They considered this consistent with the idea that genetic factors play a role in mesothelioma.

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 two patients (sisters), with genetic testing for BAP1 mutations
• Who was studied: Two sisters treated at a hospital in Vila Nova de Gaia, Portugal. Case I was a 56-year-old woman diagnosed in 2011. Case II, her older sister, was 44 at diagnosis in 1999. Their mother's illness is also described.
• Exposure: Neither patient had any known asbestos exposure. Case I worked as a manager in a textile and shoes factory, and case II was a history teacher. The factor studied was a germline (inherited) BAP1 gene mutation.
• Main results:
  • Case I (younger sister): biopsies of the peritoneum taken during laparoscopy led to a diagnosis of WDPM.
  • Case I: after four cycles of cisplatinum and pemetrexed chemotherapy, the ascites (abdominal fluid) fully regressed.
  • Case I: after chemotherapy, an eye mass was removed and diagnosed as uveal melanoma.
  • Case II (older sister): originally diagnosed in 1999 with malignant pleural and peritoneal epithelioid mesothelioma, she had a 12-year survival period.
  • Case II: a 2011 review of the original biopsies led to a diagnosis of WDPM.
  • The sisters' mother, a 72-year-old retired medical doctor, died in 1997. A pathology report from her illness was compatible with epithelioid peritoneal mesothelioma.
  • Both sisters had the same frameshift mutation in exon 9 of the BAP1 gene.
• The authors' conclusion: The authors concluded that this was the first description of a family connection between two patients with WDPM and the first description of a connection between a germline BAP1 mutation and WDPM. They said their description was consistent with the hypothesis that genetic factors play a role in mesothelioma.

Topics

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

Medical terms in this study, explained in our Lexicon: Well-Differentiated Papillary Mesothelioma, BAP1 Tumor Predisposition Syndrome, Epithelioid, Mesothelioma, Prognosis, Peritoneum, Chemotherapy, Pleura.

Related studies

• Prevalence and Preliminary Validation of Screening Criteria to Identify Carriers of Germline BAP1 Mutations — M.G. Zauderer, G. Jayakumaran, et al. (2019)
• Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients — C.M. Cebulla, E.M. Binkley, et al. (2015)
• Germline BAP1-positive patients: the dilemmas of cancer surveillance and a proposed interdisciplinary consensus monitoring strategy — P. Star, A. Goodwin, et al. (2018)
• Germline BAP1 mutations predispose to malignant mesothelioma — J.R. Testa, M. Cheung, et al. (2011)
• Histomorphologic spectrum of BAP1 negative melanocytic neoplasms in a family with BAP1-associated cancer susceptibility syndrome — Z. Marušić, M. Buljan, et al. (2015)
• CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma — M. Betti, A. Aspesi, et al. (2016)

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