EWSR1-NFATC2 gene fusion in a soft tissue tumor with epithelioid round cell morphology and abundant stroma

a case report and review of the literature

Jarish N. Cohen, Amit J. Sabnis, Gregor Krings, Soo Jin Cho, Andrew E. Horvai, Jessica Davis

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Mesenchymal round cell tumors are a diverse group of neoplasms defined by primitive, often high-grade cytomorphology. The most common molecular alterations detected in these tumors are gene rearrangements involving EWSR1 to one of many fusion partners. Rare EWSR1-NFATC2 gene rearrangements, corresponding to a t(20;22) gene translocation, have been described in mesenchymal tumors with clear round cell morphology and a predilection for the skeleton. We present a case of a tumor harboring the EWSR1-NFATC2 gene fusion arising in the subcutaneous tissue of a young woman. The tumor exhibited corded and trabecular architecture of epithelioid cells within abundant myxoid and fibrous stroma. The cells showed strong immunoreactivity for NKX2.2, variable CD99, keratin, and epithelial membrane antigen, but were negative for S100 and myoepithelial markers. Importantly, similar to previously reported cases, the clinical course was more indolent than that of Ewing sarcoma. This case highlights the distinctive clinicopathological characteristics of EWSR1-NFATC2 gene fusion–associated neoplasms that distinguish them from Ewing sarcoma.

Original languageEnglish (US)
Pages (from-to)281-290
Number of pages10
JournalHuman Pathology
Volume81
DOIs
StatePublished - Nov 1 2018

Fingerprint

Epithelioid Cells
Gene Fusion
Neoplasms
Ewing's Sarcoma
Gene Rearrangement
Mucin-1
Neoplasm Genes
Subcutaneous Tissue
Keratins
Skeleton
Genes

Keywords

  • Bone
  • Ewing sarcoma
  • EWSR1
  • Myoepithelial
  • NFATC2
  • Soft tissue

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

EWSR1-NFATC2 gene fusion in a soft tissue tumor with epithelioid round cell morphology and abundant stroma : a case report and review of the literature. / Cohen, Jarish N.; Sabnis, Amit J.; Krings, Gregor; Cho, Soo Jin; Horvai, Andrew E.; Davis, Jessica.

In: Human Pathology, Vol. 81, 01.11.2018, p. 281-290.

Research output: Contribution to journalArticle

Cohen, Jarish N. ; Sabnis, Amit J. ; Krings, Gregor ; Cho, Soo Jin ; Horvai, Andrew E. ; Davis, Jessica. / EWSR1-NFATC2 gene fusion in a soft tissue tumor with epithelioid round cell morphology and abundant stroma : a case report and review of the literature. In: Human Pathology. 2018 ; Vol. 81. pp. 281-290.
@article{2a05fc07e0d642ec983c0d2513c01862,
title = "EWSR1-NFATC2 gene fusion in a soft tissue tumor with epithelioid round cell morphology and abundant stroma: a case report and review of the literature",
abstract = "Mesenchymal round cell tumors are a diverse group of neoplasms defined by primitive, often high-grade cytomorphology. The most common molecular alterations detected in these tumors are gene rearrangements involving EWSR1 to one of many fusion partners. Rare EWSR1-NFATC2 gene rearrangements, corresponding to a t(20;22) gene translocation, have been described in mesenchymal tumors with clear round cell morphology and a predilection for the skeleton. We present a case of a tumor harboring the EWSR1-NFATC2 gene fusion arising in the subcutaneous tissue of a young woman. The tumor exhibited corded and trabecular architecture of epithelioid cells within abundant myxoid and fibrous stroma. The cells showed strong immunoreactivity for NKX2.2, variable CD99, keratin, and epithelial membrane antigen, but were negative for S100 and myoepithelial markers. Importantly, similar to previously reported cases, the clinical course was more indolent than that of Ewing sarcoma. This case highlights the distinctive clinicopathological characteristics of EWSR1-NFATC2 gene fusion–associated neoplasms that distinguish them from Ewing sarcoma.",
keywords = "Bone, Ewing sarcoma, EWSR1, Myoepithelial, NFATC2, Soft tissue",
author = "Cohen, {Jarish N.} and Sabnis, {Amit J.} and Gregor Krings and Cho, {Soo Jin} and Horvai, {Andrew E.} and Jessica Davis",
year = "2018",
month = "11",
day = "1",
doi = "10.1016/j.humpath.2018.03.020",
language = "English (US)",
volume = "81",
pages = "281--290",
journal = "Human Pathology",
issn = "0046-8177",
publisher = "W.B. Saunders Ltd",

}

TY - JOUR

T1 - EWSR1-NFATC2 gene fusion in a soft tissue tumor with epithelioid round cell morphology and abundant stroma

T2 - a case report and review of the literature

AU - Cohen, Jarish N.

AU - Sabnis, Amit J.

AU - Krings, Gregor

AU - Cho, Soo Jin

AU - Horvai, Andrew E.

AU - Davis, Jessica

PY - 2018/11/1

Y1 - 2018/11/1

N2 - Mesenchymal round cell tumors are a diverse group of neoplasms defined by primitive, often high-grade cytomorphology. The most common molecular alterations detected in these tumors are gene rearrangements involving EWSR1 to one of many fusion partners. Rare EWSR1-NFATC2 gene rearrangements, corresponding to a t(20;22) gene translocation, have been described in mesenchymal tumors with clear round cell morphology and a predilection for the skeleton. We present a case of a tumor harboring the EWSR1-NFATC2 gene fusion arising in the subcutaneous tissue of a young woman. The tumor exhibited corded and trabecular architecture of epithelioid cells within abundant myxoid and fibrous stroma. The cells showed strong immunoreactivity for NKX2.2, variable CD99, keratin, and epithelial membrane antigen, but were negative for S100 and myoepithelial markers. Importantly, similar to previously reported cases, the clinical course was more indolent than that of Ewing sarcoma. This case highlights the distinctive clinicopathological characteristics of EWSR1-NFATC2 gene fusion–associated neoplasms that distinguish them from Ewing sarcoma.

AB - Mesenchymal round cell tumors are a diverse group of neoplasms defined by primitive, often high-grade cytomorphology. The most common molecular alterations detected in these tumors are gene rearrangements involving EWSR1 to one of many fusion partners. Rare EWSR1-NFATC2 gene rearrangements, corresponding to a t(20;22) gene translocation, have been described in mesenchymal tumors with clear round cell morphology and a predilection for the skeleton. We present a case of a tumor harboring the EWSR1-NFATC2 gene fusion arising in the subcutaneous tissue of a young woman. The tumor exhibited corded and trabecular architecture of epithelioid cells within abundant myxoid and fibrous stroma. The cells showed strong immunoreactivity for NKX2.2, variable CD99, keratin, and epithelial membrane antigen, but were negative for S100 and myoepithelial markers. Importantly, similar to previously reported cases, the clinical course was more indolent than that of Ewing sarcoma. This case highlights the distinctive clinicopathological characteristics of EWSR1-NFATC2 gene fusion–associated neoplasms that distinguish them from Ewing sarcoma.

KW - Bone

KW - Ewing sarcoma

KW - EWSR1

KW - Myoepithelial

KW - NFATC2

KW - Soft tissue

UR - http://www.scopus.com/inward/record.url?scp=85054060779&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85054060779&partnerID=8YFLogxK

U2 - 10.1016/j.humpath.2018.03.020

DO - 10.1016/j.humpath.2018.03.020

M3 - Article

VL - 81

SP - 281

EP - 290

JO - Human Pathology

JF - Human Pathology

SN - 0046-8177

ER -