Bone Sarcoma With EWSR1-NFATC2 Fusion : Sarcoma With Varied Morphology and Amplification of Fusion Gene Distinct From Ewing Sarcoma

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalNot applicablepeer-review

1 Scopus Citations
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Author(s)

  • Derek Tsz Wai Yau
  • John K. C. Chan
  • Siyu Bao
  • Gene Tze Chin Lau
  • Alexander Chak Lam Chan

Related Research Unit(s)

Detail(s)

Original languageEnglish
Pages (from-to)561–567
Journal / PublicationInternational Journal of Surgical Pathology
Volume27
Issue number5
Online published3 Feb 2019
Publication statusPublished - Aug 2019

Abstract

Ewing sarcomas are typified by EWSR1 fusion to ETS gene family members. Tumors with fusion partners other than ETS family members and atypical histologic features pose significant diagnostic challenges and controversies as to their classification. In this article, we report a tumor with EWSR1-NFATC2 fusion in the left femur of a 43-year-old man and with unusual morphologic features that resemble undifferentiated high-grade sarcoma. Analysis together with reported cases in the literature shows that tumors with EWSR1-NFATC2 exhibit distinctive clinicopathologic features, including predilection for young male adults, highly variable histology that varies from round cell tumors frequently associated with nuclear irregularity, short spindle cells with nuclear pleomorphism, to myoepithelial tumor-like with or without myxohyaline matrix. They show variable positivity to CD99, frequent expression of cytokeratins, and consistent high-level amplification of EWSR1-NFATC2 fusion gene with distinctive gene expression profile. These tumors thus deserve classification separate from Ewing sarcoma.

Research Area(s)

  • Ewing sarcoma, EWSR1, NFATC2, round, spindle, undifferentiated sarcoma

Bibliographic Note

Full text of this publication does not contain sufficient affiliation information. With consent from the author(s) concerned, the Research Unit(s) information for this record is based on the existing academic department affiliation of the author(s).

Citation Format(s)

Bone Sarcoma With EWSR1-NFATC2 Fusion : Sarcoma With Varied Morphology and Amplification of Fusion Gene Distinct From Ewing Sarcoma. / Yau, Derek Tsz Wai; Chan, John K. C.; Bao, Siyu; Zheng, Zongli; Lau, Gene Tze Chin; Chan, Alexander Chak Lam.

In: International Journal of Surgical Pathology, Vol. 27, No. 5, 08.2019, p. 561–567.

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalNot applicablepeer-review