# Beyond Asbestos: Malignant Pleural Mesothelioma Revealing Lynch Syndrome Through Mismatch Repair Deficiency

**Authors:** Stefanni Vivanco, Sebastian Vega, Angello Muguruza, Andrea Garzón, Sergio Daniel Zabaleta Orozco, Michael Hernández

PMC · DOI: 10.7759/cureus.101550 · Cureus · 2026-01-14

## TL;DR

A rare case links malignant pleural mesothelioma with Lynch syndrome, suggesting DNA repair defects may increase cancer risk from asbestos exposure.

## Contribution

This case report highlights a novel connection between Lynch syndrome and mesothelioma through mismatch repair deficiency.

## Key findings

- A 70-year-old woman with Lynch syndrome developed mesothelioma after asbestos exposure.
- Loss of PMS2 expression confirmed a defect in DNA mismatch repair.
- The case suggests impaired DNA repair may lower cancer risk thresholds in asbestos-exposed individuals.

## Abstract

Lynch syndrome (LS) is a hereditary cancer predisposition condition. We report a rare case of malignant pleural mesothelioma occurring in a patient with this syndrome. The interplay between genetic susceptibility and environmental exposure remains underrecognized. We describe a case of a patient with multiple primary malignancies, including mesothelioma. A 70-year-old woman, with a history of endometrial, breast, and colorectal cancers, developed malignant pleural mesothelioma following 15 years of residence in a mining area with probable asbestos exposure. Immunohistochemistry revealed a loss of PMS2 expression, supporting a defect in MMR. This report documents an exceptional coexistence of malignant pleural mesothelioma and LS, suggesting that impaired DNA repair may lower the carcinogenic threshold for asbestos exposure. Clinicians should consider LS in patients with multiple or atypical malignancies, including mesothelioma, and recommend comprehensive MMR testing and genetic counseling for at-risk relatives.

## Linked entities

- **Genes:** PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395]
- **Diseases:** Lynch syndrome (MONDO:0005835), malignant pleural mesothelioma (MONDO:0005112), endometrial cancer (MONDO:0002447), breast cancer (MONDO:0004989), colorectal cancer (MONDO:0005575)

## Full-text entities

- **Genes:** PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395] {aka HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMSL2}
- **Diseases:** mesothelioma (MESH:D008654), endometrial, breast, and colorectal cancers (MESH:C537243), LS (MESH:D003123), Malignant Pleural Mesothelioma (MESH:D000086002), malignancies (MESH:D009369), hereditary cancer predisposition (MESH:D009386)
- **Chemicals:** Asbestos (MESH:D001194)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12904669/full.md

## References

20 references — full list in the complete paper: https://tomesphere.com/paper/PMC12904669/full.md

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Source: https://tomesphere.com/paper/PMC12904669