Journal of Pathology and Translational Medicine

Case Study

Aggressive Supratentorial Ependymoma, RELA Fusion-Positive with Extracranial Metastasis: A Case Report: Seong-Ik Kim, Yoojin Lee, Seung Ki Kim, Hyoung Jin Kang, Sung-Hye Park; J Pathol Transl Med. 2017;51(6):588-593. Published online November 15, 2017; DOI: https://doi.org/10.4132/jptm.2017.08.10

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Ependymoma is the third most common pediatric primary brain tumor. Ependymomas are categorized according to their locations and genetic abnormalities, and these two parameters are important prognostic factors for patient outcome. For supratentorial (ST) ependymomas, RELA fusion-positive ependymomas show a more aggressive behavior than YAP1 fusion-positive ependymomas. Extracranial metastases of intra-axial neuroepithelial tumors are extremely rare. In this paper, we report a case of aggressive anaplastic ependymoma arising in the right frontoparietal lobe, which had genetically 1q25 gain, CDKN2A homozygous deletion, and L1CAM overexpression. The patient was a 10-year-old boy who underwent four times of tumor removal and seven times of gamma knife surgery. Metastatic loci were scalp and temporalis muscle overlying primary operation site, lung, liver, buttock, bone, and mediastinal lymph nodes. He had the malignancy for 10 years and died. This tumor is a representative case of RELA fusion-positive ST ependymoma, showing aggressive behavior.

Citations

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Case report: Polymorphous low-grade neuroepithelial tumor of the young and supratentorial ependymoma diagnosed in an adult male
Cynthia Y. Xu, Craig A. Beers, Jian-Qiang Lu, Crystal L. Hann, Ronald C. Ramos
Frontiers in Neurology.2024;[Epub] CrossRef
A Pediatric Case of Extraneural Subcutaneous Metastasis of Ependymoma
Chika Ueno, Masayuki Tanaka, Ayako Yamazaki, Shuichi Yamamoto
Journal of Pediatric Hematology/Oncology.2023; 45(8): e1025. CrossRef
Patterns of Extraneural Metastases in Children With Ependymoma
Priya P. Chan, Nicholas S. Whipple, Biswarathan Ramani, David A. Solomon, Holly Zhou, Luke L. Linscott, John R.W. Kestle, Carol S. Bruggers
Journal of Pediatric Hematology/Oncology.2023; 45(2): e272. CrossRef
Magnetic Resonance Imaging Features of Zinc Finger Translocation Associated-RELA Fusion Ependymoma Compared to Its Wild-Type Counterpart
Hanbing Shao, Ni Chen, Xiaorui Su, Linmao Zheng, Xibiao Yang, Xinyue Wan, Simin Zhang, Qiaoyue Tan, Shuang Li, Qiyong Gong, Qiang Yue
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A clinicopathological analysis of supratentorial ependymoma, ZFTA fusion-positive: utility of immunohistochemical detection of CDKN2A alterations and characteristics of the immune microenvironment
Naohito Hashimoto, Tomonari Suzuki, Keisuke Ishizawa, Sumihito Nobusawa, Hideaki Yokoo, Ryo Nishikawa, Masanori Yasuda, Atsushi Sasaki
Brain Tumor Pathology.2023; 40(3): 163. CrossRef
Recurrent intracranial anaplastic ependymoma with late‐onset giant scalp metastasis
Gianluca Scalia, Gianluca Ferini, Bipin Chaurasia, Francesca Graziano, Stefano Priola, Paolo Amico, Giuseppe Emmanuele Umana
Clinical Case Reports.2023;[Epub] CrossRef
Extra-Neural Metastases From Primary Intracranial Ependymomas: A Systematic Review
Paolo Palmisciano, Gianluca Ferini, Fabio Barone, Vishal Chavda, Fabrizio Romano, Paolo Amico, Donatella Emmanuele, Giovanni F. Nicoletti, Gianluca Pompili, Giuseppe Roberto Giammalva, Rosario Maugeri, Domenico Gerardo Iacopino, Lidia Strigari, Tseng T. Y
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Changes to pediatric brain tumors in 2021 World Health Organization classification of tumors of the central nervous system
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Delineation of molecular characteristics in pediatric PFA ependymoma involving rare osseous and pulmonary metastases: A case report and literature review
Mading Zhou, Leiming Wang, Peng Sun, Yutong Liu, Ge Chen, Gao Zeng
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Cytology of Extraneural Metastases of Nonhematolymphoid Primary Central Nervous System Tumors: Six Cases with Histopathological Correlation and Literature Update
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Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing
Ejaz Butt, Sabra Alyami, Tahani Nageeti, Muhammad Saeed, Khalid AlQuthami, Abdellatif Bouazzaoui, Mohammad Athar, Zainularifeen Abduljaleel, Faisal Al-Allaf, Mohiuddin Taher
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RELA Fusion in Supratentorial Extraventricular Ependymomas: A Morphologic, Immunohistochemical, and Molecular Study of 43 Cases
Leiming Wang, Lina Liu, Hainan Li, PeiPei Wang, Zeliang Hu, Yukui Wei, Ming Zhang, Wenjuan Wen, Zhi Li, Li Liu, Lihong Zhao, Dehong Lu, Lianghong Teng
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Epithelial-to-mesenchymal transition–related transcription factors are up-regulated in ependymomas and correlate with a poor prognosis
Prit Benny Malgulwar, Aruna Nambirajan, Pankaj Pathak, Madhu Rajeshwari, Vaishali Suri, Chitra Sarkar, Manmohan Singh, Mehar Chand Sharma
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Case Reports

Cytologic Features of Giant Cell Ependymoma: A Case Report and Review of the Literature: Myoung Ju Koh, Sun Och Yoon, Hyae Min Jeon, Hyeon Joo Jeong, Soon Won Hong, Se Hoon Kim; Korean J Pathol. 2012;46(5):507-513. Published online October 25, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.5.507

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Abstract PDF

Here, we present a case of anaplastic giant cell ependymoma (GCE) occurring in a 15-year-old woman. Squash smear slides for intraoperative frozen section diagnosis revealed oval to round cell clusters with a papillary structure in a fibrillary background. This was occasionally accompanied by the presence of bizarre pleomorphic giant cells with hyperchromatic nuclei and prominent intranuclear inclusions. These intranuclear inclusions were a key clue to diagnosis of ependymoma. Histologic analysis revealed features of a high-grade tumor with perivascular pseudorosettes and bizarre pleomorphic giant cells, which established the diagnosis of GCE. We performed a review of literatures about the cytologic features of GCE, including our case, thus proposing that intraoperative frozen diagnosis of GCE would be established by squash smear preparations featuring the mitosis and necrosis, as well as the high cellularity, and the presence of giant cells showing hyperchromatic nuclei with eosinophilic cytoplasm and intranuclear inclusions/pseudoinclusions.

Citations

Citations to this article as recorded by

A case of myxopapillary ependymoma with predominant giant cell morphology: A rare entity with comprehensive genomic profiling and review of literature
Bryan Morales‐Vargas, Hassan Saad, Daniel Refai, Matthew Schniederjan, Zied Abdullaev, Kenneth Aldape, Malak Abedalthagafi
Neuropathology.2024;[Epub] CrossRef
Report of a case of giant cell ependymoma with unusual clinical and pathological presentation
Mónica B. Mezmezian, Victor Del Caño, Liliana G. Olvi
Neuropathology.2019; 39(4): 313. CrossRef
Giant Cell Ependymoma of Cervicomedullary Junction: A Case Report of a Long-Term Survivor and Literature Review
Martina Cappelletti, Andrea G. Ruggeri, Giorgia Iacopino, Roberto Delfini
World Neurosurgery.2018; 116: 121. CrossRef
Immunohistochemical features of giant cell ependymoma of the filum terminale with unusual clinical and radiological presentation
Fernando Candanedo-Gonzalez, Cindy Sharon Ortiz-Arce, Samuel Rosales-Perez, Ana Lilia Remirez-Castellanos, Candelaria Cordova-Uscanga, Armando Gamboa-Dominguez
Diagnostic Pathology.2017;[Epub] CrossRef
Giant Cell Ependymoma of Lateral Ventricle: Case Report, Literature Review, and Analysis of Prognostic Factors and Genetic Profile
Hirokazu Takami, Christopher S. Graffeo, Avital Perry, Aditya Raghunathan, Robert B. Jenkins, Caterina Giannini, Terry C. Burns
World Neurosurgery.2017; 108: 997.e9. CrossRef

Clear Cell Ependymoma.: Jae Hee Suh, Seung Mo Hong, In Chul Lee; Korean J Pathol. 1997;31(4):383-387.

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Abstract PDF: The clear cell variant of ependymoma is a rare, recently described, intracranial tumor which is composed of clear neoplastic ependymal cells. Clear cell ependymomas may share characteristic histologic features of oligodendrogliomas or central neurocytomas; striking nuclear uniformity, perinuclear halos, and numerous angulated capillaries. In contrast to oligodendrogliomas, however, clear cell ependymomas are noninfiltrating tumors with sharp boundaries. Perivascular pseudorosette formation is frequent. Oligodendrogliomas are usually nonreactive for GFAP compared to diffuse immunoreactivity of clear cell ependymoma. Central neurocytomas may also be differentiated by their immunoreactivity for synaptophysin. This is a case of clear cell ependymoma in a 40-year-old man. By computed tomography and magnetic resonance imaging scans, a well circumscribed cystic tumor with mural nodule was demonstrated in the right frontal lobe. It was 6cm in diameter and well enhanced. Histologically, it was sharply demarcated from the brain parenchyma. The cystic wall was lined by atypical ependymal cells, which "transformed" to clear cells in the solid area. The cells had uniform nuclei and perinuclear halos. Mitotic figures and necrotic foci were focally present. The cells were immunoreactive for glial fibrillary acidic protein (GFAP), while synaptophysin was negative. Electron microscopy revealed densely packed polyheadral cells with scant organelles and well developed intercellular junctions.

Original Article

Correlation of Ki-67, p53 and bcl-2 Expression with Grade and Behavior of Ependymoma.: Jae Ho Han, Tai Seung Kim; Korean J Pathol. 1999;33(9):723-728.

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Abstract PDF: Ependymomas constitute no more than 5 to 7% of all primary CNS neoplasm and their biologic behavior is difficult to predict by microscopic appearances. Recently, many studies have attempted to correlate biologic behavior with tumor proliferation index, tumor suppressor gene and oncogene using immunohistochemical stains. We evaluated 25 cases of surgically resected intracranial ependymomas for the proliferation activity using Ki-67, and expression of p53 and bcl-2 protein with regard to the prognosis. The cases were divided into 17 ependymomas (WHO Grade II), 3 papillary ependymomas (WHO Grade II), and 5 anaplastic ependymomas. Clinically, the patients were divided into two groups, recurrent (18 cases) or non-recurrent (7 cases). The Ki-67 proliferation index was significantly higher in the recurrent group (p<0.05) and in the younger ages (correlation index=0.534). Although Ki-67 proliferation index was higher in anaplastic ependymoma, it was not significant statistically (p>0.05). p53 protein expression tended to increase in the patients who had anaplastic ependymoma and in the recurrent group. bcl-2 expression was not correlated with histologic grade or recurrence of the tumor. We conclude that Ki-67 proliferation index and p53 expression are important markers for predicting biologic behavior of ependymoma.

Case Reports

Crush Cytologic Findings of Myxopapillary Ependymoma in Spinal Cord: A Case Report.: Soo Jin Jung, Young Il Yang; Korean J Cytopathol. 1999;10(1):73-78.

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Abstract PDF: Myxopapillary ependymoma generally arise in the conus medullaris and filum terminale of adult spinal cord. These tumors are readily recognized due to unique histopathologic features, however, their cytologic features are not well described. When only a tiny sample is obtained, cytologic examination using crush preparation may be a useful diagnostic tool to help appropriate intraoperative diagnosis. We present the crush cytologic features of myxopapillary ependymoma arising in thoracic and lumbar spinal cord of a 13-year-old boy. The patient had complained of paraparesis and back pain for 1 month. The MRI image revealed a relatively well demarcated intramedullary mass in T11-L1 levels. Crush preparation for cytology were performed by biopsy material. Crush cytologic findings revealed high cellularity and small sized branching papillary clusters on fibrillary or mucinous background. The tumor cells had uniform round or elongated nuclei. The cytoplasmic process of tumor cells were attached to the vascular wall. Between the tumor cells and vascular walls, the perivascular collar of globoid acellular stroma with metachromatic reaction on toluidin blue stain was noted. The crush preparation of myxopapillary ependymoma is considered as a simple and highly accurate diagnostic tool for differentiation from other intramedullary neoplasms of central nervous system.

Ependymoma Arising from the Pelvis: A Case Report.: Kyungji Lee, Jihan Jung, Youn Soo Lee, Kyo Young Lee, Byung Kee Kim, Chang Suk Kang; Korean J Pathol. 2005;39(2):120-124.

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Abstract PDF: We report here on a case of an ependymoma arising from the pelvis in a 25-year-old woman. She had no evidence of abnormality in her brain and bilateral ovaries. The diagnosis was based on light microscopic, immunohistochemical, and ultrastructural features of a typical ependymoma, including the patterns of pseudorosette or true ependymal rosette, the strong immunopositivity for glial fibrillary acid protein and intermediate filaments, and cilia of tumor cells. The mass was over 20 cm in maximum diameter, and it was located between the uterus and rectum without any connection to bilateral ovaries. There were many metastatic nodules in the pelvis and omentum. In addition, the proliferation index in the most active area was 10% by immunohistochemistry using monoclonal antibody MIB-1. Although the prognosis of the pelvic ependymoma is known to be difficult to evaluate, this case may serve to illustrate the poor prognostic course, according to the size of the tumor, the evidence of metastasis, and the MIB-1 labelling index.

Original Article

Genomic Imbalances in Ependymoma by Degenerate Oligonucleotide Primed PCR-Comparative Genomic Hybridization.: Sung Hye Park, Gi Jin Kim, Min Kyung Kim, Hanseong Kim, Yoen Lim Suh, Sun Hwa Park; Korean J Pathol. 2004;38(3):133-137.

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Abstract PDF: BACKGROUND
The most consistent chromosomal abnormality in ependymomas, is loss of 22q (17-75%) and gain of 1q (0-50%). However, significance of this abnormality is uncertain.
METHODS
Genomic imbalances in 27 Korean ependymomas, including 21 low grade ependymomas, 4 anaplastic and 2 myxopapillary ependymomas, were analyzed by degenerate oligonucleotide primed-PCR-comparative genomic hybridization.
RESULTS
Common gains were found in 17 (63%), 20q (59%), 9q34 (41%), 15q24-qter (33%), 11q13 (30%), 12q23 (26%), 7q23-qter (26%), 16q23-qter (30%), 19 (26%), and 1q32-qter (22%). DNA amplification was identified in 12 tumors (44%). Chromosomal loss was a less common occurrence in our study, but was found in 13q (26%), 6q (19%), and 3 (11%).
CONCLUSION
The recurrent gains or losses of the chromosomal regions which were identified in this study provide candidate regions that may be involved in the development and progression of ependymomas.

Case Report

Ependymoma in Pelvic Cavity : A case report.: Joon Hyuk Choi, Hae Joo Nam, Dong Suk Kim, Won Hee Choi, Tae Sook Lee, Hong Jin Kim; Korean J Pathol. 1991;25(5):481-487.

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Abstract: A case of ependymoma originated in pelvic cavity is reported. Metastasis to regional lymph nodes and abdominal cavity developed. This tumor is thought to arise from heterotopic ependymal rests. The patient was 32 year old woman. A 10.0x7.0x7.0 cm sized mass was located between the uterus and rectum, which was attached to the rectal wall. It was a well circumscribed tumor with massive hemorrhage and necrosis. Histologically, tumor showed variegated appearance. Plump oval or round cells were arranged oval of elongated cells with fibrillary cytoplasmic process. Occasionally perivascular pseudorosette and ependymal rosette were seen. Immunohistochemical staining for GFAP showed intense positivity. Ultrastructural examination showed intracytoplasmic microfilaments, cilia, microvilli, and blepharoplasts.

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