Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 6, 2024; 12(16): 2887-2893
Published online Jun 6, 2024. doi: 10.12998/wjcc.v12.i16.2887
Clinicopathological analysis of EWSR1/FUS::NFATC2 rearranged sarcoma in the left forearm: A case report
Qiao-Ling Hu, Chao Zeng
Qiao-Ling Hu, Chao Zeng, Department of Pathology, The Eighth Affiliated Hospital of Sun Yat-sen University, Shenzhen 518000, Guangdong Province, China
Author contributions: Zeng C is guarantor of the overall study; Zeng C and Hu QL contributed to the conceptualisation and design of this study, edited and revised the content; Hu QL drafted the manuscript. All authors have approved the final version for publication.
Supported by The Shenzhen Science and Technology Program, No. JCYJ20220530144407017.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Chao Zeng, MD, Associate Chief Physician, Department of Pathology, The Eighth Affiliated Hospital of Sun Yat-sen University, No. 3025 Shennan Zhong Lu, Shenzhen 518000, Guangdong Province, China. zengch35@mail.sysu.edu.cn
Received: February 4, 2024
Revised: March 13, 2024
Accepted: April 11, 2024
Published online: June 6, 2024
Processing time: 115 Days and 9.9 Hours
Abstract
BACKGROUND

We present a case of an EWSR1/FUS::NFATC2 rearranged sarcoma in the left forearm and analyze its clinicopathological and molecular features.

CASE SUMMARY

The patient is a 23-year-old woman. Microscopically, the tumor cells were medium-sized round cells arranged in small nests. The cytoplasm was clear, nuclei were relatively uniform, chromatin was dense, nucleoli were visible, and mitotic figures were rare. Immunohistochemically, the tumor cells were positive for Vimentin, INI-1, CD99, NKX2.2, CyclinD1, friend leukaemia virus integration 1, and NKX3.1. Next-generation sequencing revealed the presence of the EWSR1-NFATC2 fusion gene. EWSR1/FUS::NFATC2 rearranged sarcomas are rare and can easily be misdiagnosed.

CONCLUSION

Clinical imaging, immunohistochemistry, and molecular pathology should be considered to confirm the diagnosis.

Keywords: EWSR1, NFATC2, Sarcoma, Forearm, Case report

Core Tip:EWSR1/FUS::NFATC2 rearranged sarcoma is a rare and aggressive malignancy of bone or soft tissue. We report a case of EWSR1/FUS::NFATC2 rearranged sarcoma of the left forearm. Immunohistochemistry and molecular detection play an important role in distinguishing this tumor from other tumors. It is clinically insensitive to classical Ewing's sarcoma chemotherapy, therefore it is very important to recognize its presence to avoid misdiagnosis. And more cases of EWSR1/ FUS::NFATC2 rearranged sarcomas need to be collected for clinicopathological evaluation and follow-up to explore its development, prognosis, and treatment options.