Malignant mesothelioma in Lynch syndrome: A report of two cases and a review of the literature

Our plain-English summary of Malignant mesothelioma in Lynch syndrome: A report of two cases and a review of the literature, by A.R. Shih, R.L. Kradin (American Journal of Industrial Medicine, 2019).

The study

• Authors: A.R. Shih, R.L. Kradin
• Journal: American Journal of Industrial Medicine
• Published: 2019;62(5):448-452
• Type of article: Case report
• Cited by: 6 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Abstract

Malignant mesothelioma is a rare and aggressive cancer most typically associated with prior asbestos exposure. The nature of the relationship between asbestos exposure and hereditary familial syndromes predisposing to malignancy has not been determined. We report two Lynch syndrome patients with paraoccupational asbestos exposure who developed diffuse malignant mesothelioma of the pleura or peritoneum. Interestingly, one showed a separate focus of pleural well-differentiated papillary mesothelioma. It is likely that Lynch syndrome patients are at increased risk for the development of mesothelioma in the setting of exposure to asbestos, even at what is generally considered to be low levels. In the presence of a documented history of low-level asbestos exposure, patients with genetic predisposition disorders (including Lynch syndrome) should be considered to have an independent risk factor modifying the effects of asbestos exposure.

© 2019 Wiley Periodicals, Inc.

In plain English

This article is a case report of two women with Lynch syndrome, an inherited condition that raises cancer risk, who developed malignant mesothelioma, plus a brief literature review. The cases came from one author's consultation files in medicolegal litigation. Both women had paraoccupational (non-work) asbestos exposure. The first, aged 69, had laundered the dusty work clothes of her father, who repaired coal mining equipment, and later of her husband, a millwright/repairman. Her pleural biopsies showed diffuse epithelioid malignant mesothelioma and a pleural plaque the authors attributed to asbestos; a separate lung wedge biopsy showed well-differentiated papillary mesothelioma. The second, aged 51, had used talcum powder described as contaminated with tremolite asbestos. She had diffuse epithelioid peritoneal mesothelioma whose cells had lost MSH2 and MSH6. Neither case showed asbestos bodies. The two earlier reported cases did not acknowledge definite asbestos exposure. The authors concluded that Lynch syndrome likely predisposes to mesothelioma and likely acts as an independent risk factor that modifies the effects of asbestos. They said these few cases cannot show whether Lynch syndrome's genetic defect alone could cause 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 with a review of the literature
• Who was studied: Two women with Lynch syndrome, aged 69 (Case 1) and 51 (Case 2), identified from the consultation files of one of the authors (RLK) in medicolegal litigation; the authors are at Massachusetts General Hospital, Boston; dates not given
• Exposure: Paraoccupational exposure. Case 1 laundered the dusty work clothes of her father, who repaired coal mining equipment, from age 12 to 21, and later her millwright/repairman husband's clothing, at least weekly; no fiber type stated. Case 2 used commercial talcum powder described as contaminated with tremolite asbestos, from age 5 to 6 until her mid-30s, applying it at least daily from age 10
• Main results:
  • Case 1: pleural biopsies showed diffuse malignant mesothelioma, epithelioid type, with a benign hyaline pleural plaque the authors attributed to asbestos exposure
  • Case 1: a separately submitted middle lobe wedge biopsy showed a focus of well-differentiated papillary mesothelioma (WDPM) arising from the visceral pleural surface
  • Case 1: no asbestos bodies were identified; the lung showed changes attributed to current smoking
  • Case 2: peritoneal biopsies showed diffuse malignant mesothelioma, epithelioid type
  • Case 2: the tumor showed loss of MSH2 and MSH6 expression, BAP-1 and ARID1a staining was retained, and no asbestos bodies were present
  • Literature review: the two previously reported cases of mesothelioma in Lynch syndrome did not acknowledge any definitive known asbestos exposures
• The authors' conclusion: The authors concluded that the biology of Lynch syndrome suggests a likely predisposition to mesothelioma. They said that, where asbestos exposure is documented, asbestos should be considered the causal exposure, but that in genetic predisposition disorders including Lynch syndrome the disorder likely acts as an independent modifying risk factor, and lower exposure levels may possibly cause malignancy
• Limitations the authors state:
  • The authors state it is impossible to say from these few cases whether microsatellite instability is sufficient to cause malignant mesothelioma
  • The authors lacked enough family history to show the patients met the third Amsterdam diagnostic criterion for Lynch syndrome
  • The authors note a scarcity of data, likely due to the rarity of both Lynch syndrome and mesothelioma
  • Long-term follow-up was not available

Topics

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

Medical terms in this study, explained in our Lexicon: Mesothelioma, Asbestos Exposure, Pleura, Peritoneum, Well-Differentiated Papillary Mesothelioma.

Related studies

• Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature — Y. Karamurzin, Z. Zeng, et al. (2012)
• Primary Peritoneal Low-grade Serous Carcinoma in a Patient With Lynch Syndrome: A Case Report — S. Makiuchi, H. Yoshida, et al. (2020)
• Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report — Y. Lu, S. Milchgrub, et al. (2017)
• Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases — K. Rai, R. Pilarski, et al. (2016)
• Ocular melanoma and the BAP1 hereditary cancer syndrome: implications for the dermatologist — L.M. Martorano, R.R. Winkelmann, et al. (2014)
• Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome — M.C. Kaszuba, J.S. Pulido, et al. (2018)

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