Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report

Our plain-English summary of Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report, by Y. Lu, S. Milchgrub, G. Khatri, et al (International Journal of Surgical Pathology, 2017).

The study

• Authors: Y. Lu, S. Milchgrub, G. Khatri, P. Gopal
• Journal: International Journal of Surgical Pathology
• Published: 2017;25(3):253-257
• Type of article: Case report
• Cited by: 10 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Abstract

Lynch syndrome is a hereditary disease with germline mutation in a DNA mismatch repair gene, most often presenting with colorectal and/or endometrial carcinomas; however, the spectrum of Lynch syndrome-associated tumors is expanding. In this article, we report a case of a primary peritoneal epithelioid mesothelioma that developed in a Lynch syndrome patient 10 months after diagnosis of uterine endometrioid adenocarcinoma. To our knowledge, this is the first reported case of a Lynch syndrome patient with metachronous uterine endometrioid adenocarcinoma and primary peritoneal mesothelioma.

In plain English

This is a case report about one patient with Lynch syndrome, an inherited condition caused by a faulty DNA mismatch repair gene. A 49-year-old Hispanic woman was diagnosed with endometrioid adenocarcinoma of the uterus. She had surgery to remove the uterus, tubes, ovaries and pelvic lymph nodes, then 10 days of vaginal brachytherapy (internal radiation). Genetic testing found a harmful inherited MSH-6 gene mutation, supporting the Lynch syndrome diagnosis. Ten months later, a mass was found in her upper left abdomen. A needle sample was first diagnosed as the uterine cancer having spread. After the 13 cm mass was removed, mesothelial marker tests led to a revised diagnosis of primary peritoneal epithelioid mesothelioma, separate from the uterine cancer. She received no chemotherapy after the second surgery. Imaging at 2 years showed no evidence of remaining or returning cancer in the abdomen and pelvis. The authors said it was, to their knowledge, the first such reported case. They raised the possibility that Lynch syndrome-associated peritoneal mesotheliomas carry a better prognosis but said further investigation is warranted. The article does not mention asbestos.

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 (one patient)
• Who was studied: One 49-year-old Hispanic female patient with Lynch syndrome. The article does not state where or when she was treated.
• Exposure: The article does not mention asbestos or any occupational or environmental exposure. The factor examined is Lynch syndrome, an inherited germline mutation in the MSH-6 mismatch repair gene.
• Main results:
  • The uterine endometrioid adenocarcinoma was AJCC pathologic stage pT2N0. Genetic testing found a deleterious germline mutation, 1168del3ins2, on MSH-6, supporting the Lynch syndrome diagnosis.
  • The abdominal mass was found 10 months after the uterine cancer. A fine needle aspiration of the mass was initially diagnosed as metastatic adenocarcinoma consistent with endometrial primary.
  • The surgically removed mass was 13 cm and well circumscribed. Its cells were positive for the mesothelial markers calretinin, WT-1 and D2-40, while the endometrial tumor was negative for these markers. This led to a revised diagnosis of epithelioid mesothelioma.
  • Mismatch repair protein staining of the peritoneal mesothelioma resembled that of the endometrioid adenocarcinoma, with equivocal MSH-2 and MSH-6 expression (fewer than 10% of tumor cells with nuclear staining).
  • The patient received no chemotherapy after the second surgery. At 2-year follow-up, imaging showed no evidence of residual or recurrent malignancy in the abdomen and pelvis.
• The authors' conclusion: The authors concluded that, to the best of their knowledge, this is the first reported case of a Lynch syndrome patient with metachronous uterine endometrioid adenocarcinoma and primary peritoneal mesothelioma. They wrote that the case raises the possibility that Lynch syndrome-associated primary peritoneal mesotheliomas may be more likely to have favorable histologic features and a better prognosis than non-Lynch syndrome-associated peritoneal mesothelioma, but that further investigation is warranted.

Topics

Medical terms in this study, explained in our Lexicon: Adenocarcinoma, Peritoneal Mesothelioma, Germline Mutation, Carcinoma, Epithelioid, Mesothelioma.

Related studies

• Epithelioid endometrial and endometrioid stromal tumors: a report of four cases emphasizing their distinction from epithelioid smooth muscle tumors and other oxyphilic uterine and extrauterine tumors — E. Oliva, P.B. Clement, et al. (2002)
• Primary Peritoneal Low-grade Serous Carcinoma in a Patient With Lynch Syndrome: A Case Report — S. Makiuchi, H. Yoshida, et al. (2020)
• WT1 expression in the female genital tract — C. Bárcena, E. Oliva (2011)
• TRAF7 mutations and immunohistochemical study of uterine adenomatoid tumor compared with malignant mesothelioma — H. Itami, T. Fujii, et al. (2021)
• Uterine adenomatoid tumors confirmed by immunohistochemical staining — M. Irikoma, K. Takahashi, et al. (2001)
• Immunohistochemical evidence of the mesothelial histogenesis of a uterine adenomatoid tumor — Y. Satoh, M. Hiraguchi, et al. (1998)

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