Zhao XY, Yu JH, Wang YH, Liu YX, Xu L, Fu L, Yi N. Lipomatous ependymoma with ZFTA: RELA fusion-positive: A case report. World J Clin Cases 2025; 13(1): 99746 [DOI: 10.12998/wjcc.v13.i1.99746]
Corresponding Author of This Article
Juan-Han Yu, MD, Associate Professor, Department of Pathology, The First Hospital of China Medical University, No. 155 Nanjing Bei Ave, Shenyang 110001, Liaoning Province, China. yujuanhan@foxmail.com
Research Domain of This Article
Pathology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Jan 6, 2025; 13(1): 99746 Published online Jan 6, 2025. doi: 10.12998/wjcc.v13.i1.99746
Lipomatous ependymoma with ZFTA: RELA fusion-positive: A case report
Xiao-Yu Zhao, Juan-Han Yu, Yi-Hua Wang, Yi-Xin Liu, Lu Xu, Lin Fu, Ning Yi
Xiao-Yu Zhao, Yi-Hua Wang, Yi-Xin Liu, Lu Xu, China Medical University, The First Hospital of China Medical University, Shenyang 110001, Liaoning Province, China
Juan-Han Yu, Lin Fu, Department of Pathology, The First Hospital of China Medical University, Shenyang 110001, Liaoning Province, China
Ning Yi, Anshan Cancer Hospital, Anshan 114000, Liaoning Province, China
Author contributions: Zhao XY conception and design of study, drafting of manuscript and critical revision; Yu JH conception and design of study, approval of final version of manuscript; All authors have read and approved the final manuscript.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
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: Juan-Han Yu, MD, Associate Professor, Department of Pathology, The First Hospital of China Medical University, No. 155 Nanjing Bei Ave, Shenyang 110001, Liaoning Province, China. yujuanhan@foxmail.com
Received: July 29, 2024 Revised: October 3, 2024 Accepted: October 24, 2024 Published online: January 6, 2025 Processing time: 100 Days and 18.6 Hours
Abstract
BACKGROUND
Ependymoma with lipomatous differentiation is a rare type of ependymoma. The ZFTA fusion-positive supratentorial ependymoma is a novel tumor type in the 2021 World Health Organization classification of central nervous system tumors. ZFTA fusion-positive lipomatous ependymoma has not been reported to date.
CASE SUMMARY
We reported a case of a 15-year-old Chinese male who had a sudden convulsion lasting approximately six minutes. Magnetic resonance imaging showed a round cystic shadow of approximately 1.9 cm × 1.5 cm × 1.9 cm under the right parieto-occipital cortex. Microscopic examination showed characteristic perivascular pseudorosettes and adipose differentiation in the cytoplasm. Immunohistochemical staining showed that the tumor cells were negative for cytokeratin, NeuN, Syn and p53, but positive for GFAP, vimentin and S-100 protein. Significant punctate intracytoplasmic EMA immunoreactivity was observed. The level of Ki-67 was about 5%. Genetic analysis revealed ZFTA: RELA fusion. A craniotomy with total excision of the tumor was performed. The follow-up time was 36 months, no evidence of disease recurrence was found in magnetic resonance imaging.
CONCLUSION
Based on these findings, the patient was diagnosed as a ependymoma with ZFTA fusion and lipomatous differentiation. This case report provides information on the microscopic morphological features of ependymoma with ZFTA fusion and lipomatous differentiation, which can help pathologists to make a definitive diagnosis of this tumor.
Core Tip: Ependymoma with lipomatous differentiation is a rare type of ependymoma. The ZFTA fusion-positive supratentorial ependymoma is a novel tumor type in the 2021 World Health Organization classification of central nervous system tumors. ZFTA fusion-positive lipomatous ependymoma has not been reported to date. This case report provides information on the microscopic morphological features of ependymoma with ZFTA fusion and lipomatous differentiation, and highlights the possibility that ZFTA fusion and lipomatous differentiation may co-occur, adding a new layer to the molecular classification of ependymomas.
