Open Access

Malignant paraganglioma of the posterior mediastinum: A case report with genetic analysis

  • Authors:
    • Yasushi Adachi
    • Hiroaki Mita
    • Yasushi Sasaki
    • Ryogo Himori
    • Kei Onodera
    • Masahiro Nakamura
    • Takefumi Kikuchi
    • Kentaro Yamashita
    • Yukinari Yoshida
    • Yoshifumi Ishii
    • Takao Endo
  • View Affiliations

  • Published online on: November 8, 2018     https://doi.org/10.3892/mco.2018.1758
  • Pages: 10-16
  • Copyright: © Adachi et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Paraganglioma and pheochromocytoma are rare neuroendocrine neoplasms that originate from chromaffin cells. In many of these tumors, several mutations are reported to occur in the genes of germline and/or somatic cells. A case of paraganglioma in the posterior mediastinum with highly malignant potential is reported. The patient had a rapid clinical course, and it was difficult to reach the final diagnosis. The initial diagnosis on fine‑needle aspiration biopsy was a gastrointestinal stromal tumor (GIST) arising from the esophagus. Although radiation therapy was effective for the main tumor, the lung metastases did not respond sufficiently to several tyrosine kinase inhibitors. Autopsy and immunohistochemical examination using a battery of different markers resulted in a final diagnosis of malignant paraganglioma. Next‑generation sequencing revealed several gene mutations and copy number variations, including of fumarate hydratase (FH), neurofibromatosis type‑1 (NF1) and RET. Those gene alterations may contribute to the pathogenesis of this malignant phenotype to a certain extent. To confirm this, further cases and studies are required. In addition, it should be noted that histological examination of a small piece of tumor might have sampling bias and could cause misdiagnosis.
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January 2019
Volume 10 Issue 1

Print ISSN: 2049-9450
Online ISSN:2049-9469

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APA
Adachi, Y., Mita, H., Sasaki, Y., Himori, R., Onodera, K., Nakamura, M. ... Endo, T. (2019). Malignant paraganglioma of the posterior mediastinum: A case report with genetic analysis. Molecular and Clinical Oncology, 10, 10-16. https://doi.org/10.3892/mco.2018.1758
MLA
Adachi, Y., Mita, H., Sasaki, Y., Himori, R., Onodera, K., Nakamura, M., Kikuchi, T., Yamashita, K., Yoshida, Y., Ishii, Y., Endo, T."Malignant paraganglioma of the posterior mediastinum: A case report with genetic analysis". Molecular and Clinical Oncology 10.1 (2019): 10-16.
Chicago
Adachi, Y., Mita, H., Sasaki, Y., Himori, R., Onodera, K., Nakamura, M., Kikuchi, T., Yamashita, K., Yoshida, Y., Ishii, Y., Endo, T."Malignant paraganglioma of the posterior mediastinum: A case report with genetic analysis". Molecular and Clinical Oncology 10, no. 1 (2019): 10-16. https://doi.org/10.3892/mco.2018.1758