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Case Report

Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene

  • Authors:
    • Carla Marani
    • Iolia Akaev
    • Chit Cheng Yeoh
    • Elizabeth Walsh
    • Siavash Rahimi
  • View Affiliations / Copyright

    Affiliations: Histopathology Division, San Carlo di Nancy Hospital, Rome 00165, Italy, School of Pharmacy and Biomedical Sciences, University of Portsmouth, Portsmouth PO1 2UP, UK, Department of Oncology, Queen Alexandra Hospital, Portsmouth PO6 3LY, UK, Frontier Pathology, Brighton and Sussex University Hospitals NHS Trust, Royal Sussex County Hospital, Brighton BN2 5BE, UK
  • Article Number: 394
    |
    Published online on: February 24, 2021
       https://doi.org/10.3892/etm.2021.9825
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Abstract

Malignant mixed mesonephric tumours (MMMsT) of the female genital tract are extremely rare, and the majority are located in the wall of the cervix uteri. At present, there are no reports of the molecular characterisation of MMMsT of the female genital tract. Herein, we report the morphological, immunohistochemical and molecular features of this rare malignancy using next‑generation sequencing (NGS) analysis. A 58‑year‑old woman presented with vaginal bleeding. In 2013, she had been diagnosed with a cervical carcinosarcoma of probable mesonephric origin and International Federation of Gynaecology and Obstetrics (FIGO) stage IB that had been treated by total hysterosalpingo‑oopherectomy without adjuvant chemo‑radiotherapy. Ultrasonography showed a vaginal mass measuring 25 mm in the maximum dimension. Biopsy was performed and showed a biphasic neoplasm composed of adenocarcinoma and sarcoma. Immunohistochemistry showed positive staining for epithelial membrane antigen (EMA), pancytokeratin (MNF116), paired box 8 (PAX‑8), β‑catenin, cytokeratin 7, cyclin D1, GATA3 and CD10. Androgen receptor positivity was detected in very limited areas. Cytokeratin 20, carcinoembryonic antigen (CEA), oestrogen receptor (ER), progesterone receptor (PR), transcription termination factor 1 (TTF1), Wilm's tumour antigen‑1 (WT‑1), calretinin and p16 were negative. The immunohistochemical profile was consistent with mesonephric origin. NGS analysis identified a variant of the ataxia‑telangiectasia mutated (ATM) gene (p.Phe858Leu; c.2572 T>C; COSM21826). The number of detected allele frequency reads of ATM mutation following clinical relapse was higher, compared to its baseline: 65 vs. 96%. The differential diagnosis of MMMsT includes mesonephric hyperplasia, malignant mixed Mullerian tumour (carcinosarcoma), endometrioid adenocarcinoma and endometrial stromal sarcoma. The clinical significance of the observed ATM variant in the case reported herein is unknown. The present findings need further verification, as the mutation in ATM may result in chemotherapy resistance or conversely, may be exploited for targeted therapies.
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Copy and paste a formatted citation
Spandidos Publications style
Marani C, Akaev I, Yeoh C, Walsh E and Rahimi S: Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene. Exp Ther Med 21: 394, 2021.
APA
Marani, C., Akaev, I., Yeoh, C., Walsh, E., & Rahimi, S. (2021). Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene. Experimental and Therapeutic Medicine, 21, 394. https://doi.org/10.3892/etm.2021.9825
MLA
Marani, C., Akaev, I., Yeoh, C., Walsh, E., Rahimi, S."Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene". Experimental and Therapeutic Medicine 21.4 (2021): 394.
Chicago
Marani, C., Akaev, I., Yeoh, C., Walsh, E., Rahimi, S."Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene". Experimental and Therapeutic Medicine 21, no. 4 (2021): 394. https://doi.org/10.3892/etm.2021.9825
Copy and paste a formatted citation
x
Spandidos Publications style
Marani C, Akaev I, Yeoh C, Walsh E and Rahimi S: Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene. Exp Ther Med 21: 394, 2021.
APA
Marani, C., Akaev, I., Yeoh, C., Walsh, E., & Rahimi, S. (2021). Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene. Experimental and Therapeutic Medicine, 21, 394. https://doi.org/10.3892/etm.2021.9825
MLA
Marani, C., Akaev, I., Yeoh, C., Walsh, E., Rahimi, S."Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene". Experimental and Therapeutic Medicine 21.4 (2021): 394.
Chicago
Marani, C., Akaev, I., Yeoh, C., Walsh, E., Rahimi, S."Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene". Experimental and Therapeutic Medicine 21, no. 4 (2021): 394. https://doi.org/10.3892/etm.2021.9825
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