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Ependymoma, *RELA* Fusion-Positive
Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Supratentorial ependymoma, RELA fusion-positive (ST-EPN-RELA)
              • Supratentorial ependymoma, YAP1 fusion-positive
            • Definitions

              • Ependymomas (EPNs) have 9 clinically, demographically, molecular distinct entities
                • Divided into 3 anatomic compartments
                  • Supratentorial (ST), posterior fossa (PF), spinal (SPN)
                • 3 subgroups occur in each compartment
                  • Based on whole-genome DNA methylation profiling
              • 2/3 of intracranial EPNs are infratentorial
              • 1/3 of intracranial EPNs are ST
                •  2/3 of these = RELA fusion-positive

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Demographics

                              • Natural History & Prognosis

                                Selected References

                                1. Neumann JE et al: Molecular characterization of histopathological ependymoma variants. Acta Neuropathol. 139(2):305-18, 2020
                                2. Andreiuolo F et al: Childhood supratentorial ependymomas with YAP1-MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features. Brain Pathol. 29(2):205-16, 2019
                                3. Delgado-López PD et al: Central nervous system ependymoma: clinical implications of the new molecular classification, treatment guidelines and controversial issues. Clin Transl Oncol. 21(11):1450-63, 2019
                                4. Kalfas F et al: World Health Organization grade III supratentorial extraventricular ependymomas in adults: case series and review of treatment modalities. Asian J Neurosurg. 14(4):1157-64, 2019
                                5. Matsumoto Y et al: Clinicopathological and genetic features of supratentorial cortical ependymomas. World Neurosurg. 129:e417-28, 2019
                                6. Wang L et al: RELA fusion in supratentorial extraventricular ependymomas: a morphologic, immunohistochemical, and molecular study of 43 cases. Am J Surg Pathol. 43(12):1674-81, 2019
                                7. Fukuoka K et al: Significance of molecular classification of ependymomas: C11orf95-RELA fusion-negative supratentorial ependymomas are a heterogeneous group of tumors. Acta Neuropathol Commun. 6(1):134, 2018
                                8. Gamboa NT et al: Preoperative and intraoperative perfusion magnetic resonance imaging in a RELA fusion-positive anaplastic ependymoma: a case report. Surg Neurol Int. 9:144, 2018
                                9. Lavrador JP et al: Adult supratentorial extraventricular anaplastic ependymoma: therapeutic approach and clinical review. Asian J Neurosurg. 13(1):105-9, 2018
                                10. Nowak J et al: MRI phenotype of RELA-fused pediatric supratentorial ependymoma. Clin Neuroradiol. 29(4):595-604, 2018
                                11. Pagès M et al: Diagnostics of pediatric supratentorial RELA ependymomas: integration of information from histopathology, genetics, DNA methylation and imaging. Brain Pathol. 29(3):325-35 2018
                                12. Wang M et al: Supratentorial cortical ependymomas: a retrospective series of 13 cases at a single center. World Neurosurg. 112:e772-7, 2018
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Pathology

                                        • Clinical Issues

                                          TERMINOLOGY

                                          • Abbreviations

                                            • Supratentorial ependymoma, RELA fusion-positive (ST-EPN-RELA)
                                            • Supratentorial ependymoma, YAP1 fusion-positive
                                          • Definitions

                                            • Ependymomas (EPNs) have 9 clinically, demographically, molecular distinct entities
                                              • Divided into 3 anatomic compartments
                                                • Supratentorial (ST), posterior fossa (PF), spinal (SPN)
                                              • 3 subgroups occur in each compartment
                                                • Based on whole-genome DNA methylation profiling
                                            • 2/3 of intracranial EPNs are infratentorial
                                            • 1/3 of intracranial EPNs are ST
                                              •  2/3 of these = RELA fusion-positive

                                          IMAGING

                                          • General Features

                                            • CT Findings

                                              • MR Findings

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    • Staging, Grading, & Classification

                                                      • Gross Pathologic & Surgical Features

                                                        • Microscopic Features

                                                          CLINICAL ISSUES

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              Selected References

                                                              1. Neumann JE et al: Molecular characterization of histopathological ependymoma variants. Acta Neuropathol. 139(2):305-18, 2020
                                                              2. Andreiuolo F et al: Childhood supratentorial ependymomas with YAP1-MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features. Brain Pathol. 29(2):205-16, 2019
                                                              3. Delgado-López PD et al: Central nervous system ependymoma: clinical implications of the new molecular classification, treatment guidelines and controversial issues. Clin Transl Oncol. 21(11):1450-63, 2019
                                                              4. Kalfas F et al: World Health Organization grade III supratentorial extraventricular ependymomas in adults: case series and review of treatment modalities. Asian J Neurosurg. 14(4):1157-64, 2019
                                                              5. Matsumoto Y et al: Clinicopathological and genetic features of supratentorial cortical ependymomas. World Neurosurg. 129:e417-28, 2019
                                                              6. Wang L et al: RELA fusion in supratentorial extraventricular ependymomas: a morphologic, immunohistochemical, and molecular study of 43 cases. Am J Surg Pathol. 43(12):1674-81, 2019
                                                              7. Fukuoka K et al: Significance of molecular classification of ependymomas: C11orf95-RELA fusion-negative supratentorial ependymomas are a heterogeneous group of tumors. Acta Neuropathol Commun. 6(1):134, 2018
                                                              8. Gamboa NT et al: Preoperative and intraoperative perfusion magnetic resonance imaging in a RELA fusion-positive anaplastic ependymoma: a case report. Surg Neurol Int. 9:144, 2018
                                                              9. Lavrador JP et al: Adult supratentorial extraventricular anaplastic ependymoma: therapeutic approach and clinical review. Asian J Neurosurg. 13(1):105-9, 2018
                                                              10. Nowak J et al: MRI phenotype of RELA-fused pediatric supratentorial ependymoma. Clin Neuroradiol. 29(4):595-604, 2018
                                                              11. Pagès M et al: Diagnostics of pediatric supratentorial RELA ependymomas: integration of information from histopathology, genetics, DNA methylation and imaging. Brain Pathol. 29(3):325-35 2018
                                                              12. Wang M et al: Supratentorial cortical ependymomas: a retrospective series of 13 cases at a single center. World Neurosurg. 112:e772-7, 2018