Open Access

Personalized genomic analysis based on circulating tumor cells of extra‑skeletal Ewing sarcoma of the uterus: A case report of a 16‑year‑old Korean female

  • Authors:
    • Sun‑Young Lee
    • Sery Lim
    • Dong‑Hyu Cho
  • View Affiliations

  • Published online on: June 19, 2018     https://doi.org/10.3892/etm.2018.6323
  • Pages: 1343-1349
  • Copyright: © Lee et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

A 16‑year‑old female with Ewing sarcoma, a very rare disease with poor prognosis in women, was admitted to the hospital with abdominal pain. Diagnostic laparotomy revealed the Ewing sarcoma originating from the extramural uterus. Histological examination yielded positive test results for CD99, vimentin, S‑100, eosin 5‑maleimide and periodic acid‑Shiff. EWS‑FLI1 type 1 translocation was confirmed. Fibroblast growth factor receptor (FGFR) 4 (c.1162G> A) and HRas proto‑oncogene (HRAS; c.182A> G) mutations were also detected. At eight months following complete remission, pelvic lymph node metastasis was confirmed. Epithelial cell adhesion molecule‑positive circulating tumor cells (CTCs) were detected in liquid biopsy. FGFR3 (c.1948A> G) and FGFR4 (c.1162G> A) mutations were found in the CTCs. FGFR4 (c.1162G> A) and HRAS (c.182A> G) mutations were confirmed in cell‑free circulating tumor DNA. A sequence of EWSR1 gene was also confirmed in the CTCs. To the best of our knowledge, this is the first report of skeletal Ewing sarcoma being detected using multiple noninvasive diagnostic methods to observe genetic translocation and mutation in blood CTCs. It may be used to monitor the therapeutic effect of cancer or predict prognosis. Therefore, liquid biopsy is expected to serve a pivotal role in ultra‑precise medicine in the future.
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August-2018
Volume 16 Issue 2

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Lee SY, Lim S and Cho DH: Personalized genomic analysis based on circulating tumor cells of extra‑skeletal Ewing sarcoma of the uterus: A case report of a 16‑year‑old Korean female. Exp Ther Med 16: 1343-1349, 2018
APA
Lee, S., Lim, S., & Cho, D. (2018). Personalized genomic analysis based on circulating tumor cells of extra‑skeletal Ewing sarcoma of the uterus: A case report of a 16‑year‑old Korean female. Experimental and Therapeutic Medicine, 16, 1343-1349. https://doi.org/10.3892/etm.2018.6323
MLA
Lee, S., Lim, S., Cho, D."Personalized genomic analysis based on circulating tumor cells of extra‑skeletal Ewing sarcoma of the uterus: A case report of a 16‑year‑old Korean female". Experimental and Therapeutic Medicine 16.2 (2018): 1343-1349.
Chicago
Lee, S., Lim, S., Cho, D."Personalized genomic analysis based on circulating tumor cells of extra‑skeletal Ewing sarcoma of the uterus: A case report of a 16‑year‑old Korean female". Experimental and Therapeutic Medicine 16, no. 2 (2018): 1343-1349. https://doi.org/10.3892/etm.2018.6323