Malignant mesothelioma in subjects with Marfan's syndrome and Ehlers-Danlos syndrome: only an apparent association?

Our plain-English summary of Malignant mesothelioma in subjects with Marfan's syndrome and Ehlers-Danlos syndrome: only an apparent association?, by M. Bisconti, A. Bisetti, P. Bidoli (Respiration; International Review of Thoracic Diseases, 2000).

The study

• Authors: M. Bisconti, A. Bisetti, P. Bidoli
• Journal: Respiration; International Review of Thoracic Diseases
• Published: 2000;67(2):223-8
• Type of article: Case report, Review
• Cited by: 13 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Abstract

Malignant mesothelioma is a rare neoplasm which could be favored by an hereditary predisposing factor. So far, malignant mesothelioma have never been described in patients with hereditary diseases of the connective tissue. Here, we report some cases of mesothelioma affecting subjects who were not exposed to inhalation of asbestos. One of these subjects was affected by Ehlers-Danlos syndrome, whereas in two brothers, mesothelioma was associated with Marfan's syndrome. The observation of the same histologic subtype of mesothelioma in two brothers and the coexistence of two pathologic conditions of mesodermal origin indicate the presence of hereditary factors predisposing to the cancerogenic action of even small amounts of asbestos. Structural alterations of collagen and primary immunodeficiency may represent the host factor inducing development of the neoplasm. We conclude that the association between these rare disorders of the connective tissue and mesothelioma may not be coincidental, but could be the result of the exposition to small amounts of asbestos in predisposed individuals.

Copyright 2000 S. Karger AG, Basel.

In plain English

This case report from Italy described three people with malignant mesothelioma who, the authors stated, had never had occupational, family or environmental exposure to asbestos. Case 1 was a 32-year-old woman, a pediatric ward nurse who had never smoked. She was diagnosed with malignant epithelioid mesothelioma after a scan showed multiple nodules on both sides of the chest. Case 2, her sister, had fluid around the left lung (pleural effusion) from age 17. A pleural biopsy showed malignant epithelial mesothelioma, and she died at age 20. The authors judged that both sisters had Marfan's syndrome, based on skeletal and family criteria. Case 3 was a 52-year-old man with signs of type VIII Ehlers-Danlos syndrome. He smoked and had worked as a digger driver for 24 years. He was found to have peritoneal mesothelioma at age 50. No asbestos fibers were found on microscopic examination in any of the three. The authors nonetheless suspected that small amounts of asbestos from the normal environment, acting on an inherited predisposition, caused the cancers, and said these predisposing factors need further clarification.

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 (three patients)
• Who was studied: Three patients with malignant mesothelioma seen by the authors' pulmonology division (Lecce, Italy): a 32-year-old woman and her sister, both judged to have Marfan's syndrome, and an unrelated 52-year-old man with Ehlers-Danlos syndrome. Dates were not given.
• Exposure: The authors stated that none of the patients had known occupational, family or environmental asbestos exposure, and no asbestos fibers were seen on histology. Case 1 was a pediatric ward nurse. Case 3 smoked 15 cigarettes a day from age 30 and had worked as a digger driver for 24 years and 'at a lime link' for 6 years; the authors did not describe these jobs as asbestos exposure. The authors suspected that small amounts of asbestos present in the normal environment were involved.
• Main results:
  • Case 1 (32-year-old woman, never smoked): a CT scan showed multiple bilateral pleuro-parenchymal nodules and pericardial infiltration. Histology of nodule fragments taken at thoracotomy showed malignant epithelioid mesothelioma.
  • Case 2 (sister of case 1, never smoked): she had a left pleural effusion from age 17. A pleural biopsy gave a diagnosis of malignant epithelial mesothelioma, and she died at age 20.
  • Case 3 (52-year-old man with Ehlers-Danlos syndrome): peritoneal mesothelioma was shown on histology of peritoneal nodules at age 50.
  • No asbestos fibers were found in the biopsies of any of the three patients.
  • Cases 1 and 2 met two diagnostic criteria for Marfan's syndrome (osteoarticular and familial). Case 1 had a metacarpal index of 9.4; the article gives 5.4 to 7.9 as normal and 8.4 to 10.4 as the range in Marfan's syndrome.
  • Case 3 showed the signs of type VIII Ehlers-Danlos syndrome, including cutaneous hyperlaxity and hyperlaxity of the tongue.
• The authors' conclusion: The authors concluded that small amounts of asbestos may be responsible for pleural mesothelioma in predisposed individuals. They suggested that collagen abnormalities and immunodeficiency linked to these connective tissue disorders might be the predisposing factors, and said these factors need further clarification.

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: Mesothelioma, Neoplasm, Histological Subtype, Collagen.

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