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Case Report Open Access

Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report

  • Authors:
    • Makiko Ueda
    • Takafumi Watanabe
    • Tomoyuki Momma
    • Yasuyuki Kanke
    • Asami Kato
    • Chikako Okabe
    • Tetsu Sato
    • Norihito Kamo
    • Yuta Endo
    • Shigenori Furukawa
    • Shu Soeda
    • Keiya Fujimori
  • View Affiliations / Copyright

    Affiliations: Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine, Fukushima 960‑1295, Japan, Department of Gastrointestinal Tract Surgery, Fukushima Medical University School of Medicine, Fukushima 960‑1295, Japan
    Copyright: © Ueda et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 46
    |
    Published online on: May 16, 2024
       https://doi.org/10.3892/mco.2024.2744
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Abstract

Clear cell carcinoma (CCC) of the diaphragm is rare, with an origin that is reported to be associated with malignant transformation of extraperitoneal endometriosis. Lynch syndrome (LS) is an autosomal dominant hereditary cancer syndrome caused by germline pathogenic variants in one of the DNA mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2. Women with LS have a significantly increased lifetime risk of endometrial and ovarian cancer. CCC is a common histology of endometriosis‑ and LS‑associated malignancy. The present study describes the case of a 51‑year‑old woman with an intra‑abdominal mass found during a routine physical examination. The patient had undergone total hysterectomy and bilateral adnexectomy for atypical endometrial hyperplasia (AEH) and ovarian endometriosis, respectively, 3 years previously. Enhanced computed tomography showed a mass on the surface of the liver. Laparoscopic examination of the abdominal cavity revealed a tumor on the underside of the right diaphragm, which was then surgically excised. Pathological examination of the excised tumor, along with immunohistochemistry, led to a diagnosis of CCC. Since LS was suspected due to the genetic family history of the patient, microsatellite instability analysis was performed on the diaphragmatic tumor, and the results were positive. Immunohistochemistry was performed for MMR proteins in AEH and CCC cells, both of which revealed loss of MSH2 and MSH6 expression. Following detailed genetic counseling, genetic testing of MMR genes was performed, revealing a germline pathogenic variant in MSH2 (c.1000C>T, p.Gln344*), thus confirming the diagnosis of LS. To the best of our knowledge, this is the first case report of concurrent diaphragmatic CCC and LS. Patients with LS and endometriosis are at risk of developing ovarian cancer or intra‑abdominal malignant tumors. In addition, immunohistochemistry screening for MMR proteins should be considered in patients with AEH and a family history of LS‑related cancer, to enable early clinical intervention in cases of endometrial cancer.
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Copy and paste a formatted citation
Spandidos Publications style
Ueda M, Watanabe T, Momma T, Kanke Y, Kato A, Okabe C, Sato T, Kamo N, Endo Y, Furukawa S, Furukawa S, et al: Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report. Mol Clin Oncol 21: 46, 2024.
APA
Ueda, M., Watanabe, T., Momma, T., Kanke, Y., Kato, A., Okabe, C. ... Fujimori, K. (2024). Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report. Molecular and Clinical Oncology, 21, 46. https://doi.org/10.3892/mco.2024.2744
MLA
Ueda, M., Watanabe, T., Momma, T., Kanke, Y., Kato, A., Okabe, C., Sato, T., Kamo, N., Endo, Y., Furukawa, S., Soeda, S., Fujimori, K."Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report". Molecular and Clinical Oncology 21.1 (2024): 46.
Chicago
Ueda, M., Watanabe, T., Momma, T., Kanke, Y., Kato, A., Okabe, C., Sato, T., Kamo, N., Endo, Y., Furukawa, S., Soeda, S., Fujimori, K."Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report". Molecular and Clinical Oncology 21, no. 1 (2024): 46. https://doi.org/10.3892/mco.2024.2744
Copy and paste a formatted citation
x
Spandidos Publications style
Ueda M, Watanabe T, Momma T, Kanke Y, Kato A, Okabe C, Sato T, Kamo N, Endo Y, Furukawa S, Furukawa S, et al: Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report. Mol Clin Oncol 21: 46, 2024.
APA
Ueda, M., Watanabe, T., Momma, T., Kanke, Y., Kato, A., Okabe, C. ... Fujimori, K. (2024). Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report. Molecular and Clinical Oncology, 21, 46. https://doi.org/10.3892/mco.2024.2744
MLA
Ueda, M., Watanabe, T., Momma, T., Kanke, Y., Kato, A., Okabe, C., Sato, T., Kamo, N., Endo, Y., Furukawa, S., Soeda, S., Fujimori, K."Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report". Molecular and Clinical Oncology 21.1 (2024): 46.
Chicago
Ueda, M., Watanabe, T., Momma, T., Kanke, Y., Kato, A., Okabe, C., Sato, T., Kamo, N., Endo, Y., Furukawa, S., Soeda, S., Fujimori, K."Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report". Molecular and Clinical Oncology 21, no. 1 (2024): 46. https://doi.org/10.3892/mco.2024.2744
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