Familial chordoma: A case report and review of the literature

  • Authors:
    • Ke Wang
    • Zhen Wu
    • Kaibing Tian
    • Liang Wang
    • Shuyu Hao
    • Liwei Zhang
    • Junting Zhang
  • View Affiliations

  • Published online on: September 9, 2015     https://doi.org/10.3892/ol.2015.3687
  • Pages: 2937-2940
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Abstract

Familial skull base chordoma is a rare tumor derived from the remnants of the embryonic notochord. The present study describes the clinical presentation of 4 cases of skull base chordomas in a family. A 15-year-old female received staged surgeries and was pathologically confirmed with a diagnosis of skull base chordoma. Among the patient's family, 2 members had previously undergone surgery and were pathologically confirmed with chordomas; 1 family member had also received radiation therapy. Furthermore, the patient's cousin, an 18‑year‑old male, was confirmed to have this condition by epipharyngoscopy. All confirmed cases within the family remained alive with the condition. A literature review of familial chordoma was undertaken and 8 chordoma pedigrees were found. Familial chordoma was rare, with an estimated rate of 0.4% in all chordomas. The skull base was the predominant location for familial chordoma. Compared with sporadic chordoma, familial chordomas were diagnosed at a younger age. The brachyury gene was strongly associated with familial chordomas, however, the exact pathogenesis and genetics mechanisms remains unclear.
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November-2015
Volume 10 Issue 5

Print ISSN: 1792-1074
Online ISSN:1792-1082

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Spandidos Publications style
Wang K, Wu Z, Tian K, Wang L, Hao S, Zhang L and Zhang J: Familial chordoma: A case report and review of the literature. Oncol Lett 10: 2937-2940, 2015
APA
Wang, K., Wu, Z., Tian, K., Wang, L., Hao, S., Zhang, L., & Zhang, J. (2015). Familial chordoma: A case report and review of the literature. Oncology Letters, 10, 2937-2940. https://doi.org/10.3892/ol.2015.3687
MLA
Wang, K., Wu, Z., Tian, K., Wang, L., Hao, S., Zhang, L., Zhang, J."Familial chordoma: A case report and review of the literature". Oncology Letters 10.5 (2015): 2937-2940.
Chicago
Wang, K., Wu, Z., Tian, K., Wang, L., Hao, S., Zhang, L., Zhang, J."Familial chordoma: A case report and review of the literature". Oncology Letters 10, no. 5 (2015): 2937-2940. https://doi.org/10.3892/ol.2015.3687