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Trybula SJ, Wadhwani NR, Mohammad LM, Lam SK, Lenzen AC, Alden TD. Pediatric spinal intramedullary anaplastic myxopapillary ependymoma: a case report. Childs Nerv Syst 2022; 38:223-227. [PMID: 34125264 DOI: 10.1007/s00381-021-05171-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/25/2020] [Accepted: 04/15/2021] [Indexed: 10/21/2022]
Abstract
A 6-year-old girl presented with a 1-week history of progressive upper and lower extremity weakness and bilateral upper extremity dysesthesia. Imaging demonstrated a 4.7 × 1.2-cm enhancing intramedullary lesion in the cervical spine from level C2 to C5 with associated cystic components and syringomyelia. The patient underwent a C2-C5 laminoplasty, with gross total resection of the intramedullary lesion. Histological analysis showed small to medium-sized epithelioid cells, with predominantly a solid architecture focally infiltrating into the adjacent spinal cord tissue. Focal papillary differentiation was present along with peri-vascular pseudorosettes, mucin microcysts, and globules of dense collagen. Focal anaplasia was noted with mitosis (5/10 HPF), focal necrosis, and elevated Ki67 10-15%. These findings were consistent with a myxopapillary ependymoma with anaplastic features. CSF cytology was negative for tumor cells. MYCN amplification was not present. She was treated with targeted proton-beam radiation therapy. This is the fourth case of an intramedullary anaplastic myxopapillary ependymoma to date, and the first case in the cervical spine reported in the literature.
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Affiliation(s)
- S Joy Trybula
- Department of Neurosurgery, Division of Pediatric Neurosurgery, Northwestern University Feinberg School of Medicine/Ann and Robert H. Lurie Children's Hospital, 225 E. Chicago Avenue, Chicago, IL, 60611, USA
| | - Nitin R Wadhwani
- Department of Pathology and Laboratory Medicine, Director of Pediatric Neuropathology, Northwestern University Feinberg School of Medicine/Ann and Robert H. Lurie Children's Hospital, Chicago, IL, USA
| | - Laila M Mohammad
- Department of Neurosurgery, Division of Pediatric Neurosurgery, Northwestern University Feinberg School of Medicine/Ann and Robert H. Lurie Children's Hospital, 225 E. Chicago Avenue, Chicago, IL, 60611, USA
| | - Sandi K Lam
- Department of Neurosurgery, Division of Pediatric Neurosurgery, Northwestern University Feinberg School of Medicine/Ann and Robert H. Lurie Children's Hospital, 225 E. Chicago Avenue, Chicago, IL, 60611, USA
| | - Alicia C Lenzen
- Department of Pediatrics, Division of Hematology, Oncology, Neuro-Oncology and Stem Cell Transplantation, Northwestern University Feinberg School of Medicine/Ann and Robert H. Lurie Children's Hospital, Chicago, IL, USA
| | - Tord D Alden
- Department of Neurosurgery, Division of Pediatric Neurosurgery, Northwestern University Feinberg School of Medicine/Ann and Robert H. Lurie Children's Hospital, 225 E. Chicago Avenue, Chicago, IL, 60611, USA.
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Kanno H, Kanetsuna Y, Shinonaga M. Anaplastic myxopapillary ependymoma: A case report and review of literature. World J Clin Oncol 2021; 12:1072-1082. [PMID: 34909401 PMCID: PMC8641005 DOI: 10.5306/wjco.v12.i11.1072] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/23/2021] [Revised: 05/17/2021] [Accepted: 10/11/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Myxopapillary ependymoma (MPE) is a pathological grade I tumor that arises in the filum terminale. MPE with anaplastic features is extremely rare, and only 5 cases have shown malignancy at the time of recurrence.
CASE SUMMARY The patient (a 46-year-old woman) had undergone a MPE operation 30 years ago. After subtotal resection of the tumor located in L4-S1, it had a solid component that extended to the adjacent subcutaneous region. Histologically, the tumor consisted of a typical MPE with anaplastic features. The anaplastic areas of the tumor showed hypercellularity, a rapid mitotic rate, vascular proliferation, and connective tissue proliferation. Pleomorphic cells and atypical mitotic figures were occasionally observed. The MIB-1 index in this area was 12.3%. The immunohistochemical study showed immunoreactivity for vimentin, glial fibrillary acidic protein and S100. The morphological pattern and immunohistochemical profile were consistent with anaplastic MPE. The patient tolerated surgery well without new neurological deficits. She underwent local irradiation for the residual tumor and rehabilitation.
CONCLUSION Although extremely rare, anaplastic MPE occurs in both pediatric and adult patients, similar to other ependymomas. At a minimum, close monitoring is recommended, given concerns about aggressive biological potential. In the future, further study is needed to determine the WHO classification criteria and genetic indicators of tumor progression. The possibility of malignant transformation of MPE should be taken into account, and patients with MPE should be treated with care and follow-up.
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Affiliation(s)
- Hiroshi Kanno
- Department of Neurosurgery, International University of Health and Welfare Atami Hospital, Atami 413-0012, Shizuoka, Japan
| | - Yukiko Kanetsuna
- Department of Pathology, International University of Health and Welfare Atami Hospital, Atami 413-0012, Shizuoka, Japan
| | - Masamichi Shinonaga
- Department of Neurosurgery, International University of Health and Welfare Atami Hospital, Atami 413-0012, Shizuoka, Japan
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Khristov V, Shenoy G, Mau C, Mrowczynski O, Rizk E, Pu C, Specht CS, Aregawi D. Myxopapillary Ependymoma with Anaplastic Features: A Case Series and Review of the Literature. World Neurosurg 2021; 158:e735-e745. [PMID: 34800728 DOI: 10.1016/j.wneu.2021.11.053] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/17/2021] [Revised: 11/12/2021] [Accepted: 11/12/2021] [Indexed: 10/19/2022]
Abstract
BACKGROUND Myxopapillary ependymomas (MPEs) with anaplastic features are rarely reported, with only 21 cases identified to date, and long-term recurrence is rarely presented. A case series is presented to expand understanding of this disease by describing 3 unique cases, including 2 that arose from MPE after a prolonged clinical course. METHODS A literature review was performed, and 3 cases of MPE with anaplastic features from our institution were included. RESULTS Patient 1 was a 13-year-old boy who presented with an avidly enhancing intradural lumbar mass. On gross total resection, the tumor was found to be a solid mass with areas of myxopapillary architecture and MIB-1 (Ki-67) index of 12%. Patient 2 was a woman who initially presented at age 22 with a lumbosacral tumor that was treated with surgery and radiation. A recurrent tumor was resected at age 24. At age 50, the patient presented with a large heterogeneous exophytic mass in the sacrum extending into the presacral space and Ki-67 index of 8%. This was treated with complete resection. Patient 3 was a man who initially presented at age 35 with a lower thoracic, upper lumbar mass at L2 extending into the sacrum. Following resection and radiation, a metastatic focus followed an indolent course until causing pain at the age of 48. Ki-67 index was 16%. CONCLUSIONS The presented cases of MPE with anaplastic features make a total of 24 cases on record in the medical literature and demonstrate 2 examples of late recurrence.
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Affiliation(s)
- Vladimir Khristov
- Department of Neurosurgery, Penn State Hershey Medical Center, Hershey, Pennsylvania, USA.
| | - Ganesh Shenoy
- Department of Neurosurgery, Penn State Hershey Medical Center, Hershey, Pennsylvania, USA
| | - Christine Mau
- Department of Neurosurgery, Penn State Hershey Medical Center, Hershey, Pennsylvania, USA
| | - Oliver Mrowczynski
- Department of Neurosurgery, Penn State Hershey Medical Center, Hershey, Pennsylvania, USA
| | - Elias Rizk
- Department of Neurosurgery, Penn State Hershey Medical Center, Hershey, Pennsylvania, USA
| | - Cunfeng Pu
- Department of Pathology and Laboratory Medicine, Penn State Hershey Medical Center, Hershey, Pennsylvania, USA
| | - Charles S Specht
- Department of Neurosurgery, Penn State Hershey Medical Center, Hershey, Pennsylvania, USA; Department of Pathology and Laboratory Medicine, Penn State Hershey Medical Center, Hershey, Pennsylvania, USA
| | - Dawit Aregawi
- Department of Neurosurgery, Penn State Hershey Medical Center, Hershey, Pennsylvania, USA
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Eschbacher KL, Rao AN, Greipp PT, Gliem TJ, Daniels DJ, Warad D, Eckel LJ, Raghunathan A. Pediatric Myxopapillary Ependymomas: A Clinicopathologic Evaluation. J Pediatr Hematol Oncol 2021; 43:e1194-e1200. [PMID: 33395181 DOI: 10.1097/mph.0000000000002041] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/14/2020] [Accepted: 11/12/2020] [Indexed: 11/26/2022]
Abstract
Myxopapillary ependymomas (MPEs) have an indolent clinical course, corresponding to World Health Organization Grade I. A total of 13 pediatric MPEs have been reported in the literature with "anaplastic features," including elevated proliferative activity (≥5 mitoses/10 high-power fields), necrosis, and microvascular proliferation. No consensus exists regarding the prognostic significance of such features. A retrospective clinicopathologic review of pediatric MPEs diagnosed between 1996 and 2018 at Mayo Clinic was performed. Totally, 8 pediatric MPEs (6 male; age: 7.52 to 16.88 y) were identified. Totally, 3 had disseminated disease at presentation. All patients underwent surgical resection (7 gross total; 1 subtotal). Totally, 5 cases harbored ≥5 mitoses/10 high-power fields (range: 5 to 9), 3 of which showed necrosis (2 with disseminated disease). Postsurgery, 2 patients received radiation; one with disseminated disease and another with increased mitotic activity/necrosis; neither has recurred (follow-up: 1.18 and 3.19 y). In all, 2 patients with disseminated disease, elevated mitotic activity, and necrosis had new metastatic disease/progression of nonresected metastatic foci (2.6 and 26.8 mo), received radiation therapy, and remain progression free (3.01 and 9.34 y). All patients are alive (median follow-up 1.31 y, range: 0.66 to 11.75). Among pediatric MPEs, the concurrent presence of elevated mitotic activity and necrosis may be associated with an aggressive clinical course, warranting closer surveillance and consideration of adjuvant therapies.
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Affiliation(s)
| | - Amulya Nageswara Rao
- Division of Pediatric Hematology/Oncology, Department of Pediatrics and Adolescent Medicine, Mayo Clinic, Rochester, MN
| | | | - Troy J Gliem
- Departments of Laboratory Medicine and Pathology
| | | | - Deepti Warad
- Division of Pediatric Hematology/Oncology, Department of Pediatrics and Adolescent Medicine, Mayo Clinic, Rochester, MN
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Pediatric Extraspinal Sacrococcygeal Ependymoma: Report of Two Cases and Literature Review. Diagnostics (Basel) 2021; 11:diagnostics11091680. [PMID: 34574021 PMCID: PMC8471863 DOI: 10.3390/diagnostics11091680] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/26/2021] [Revised: 09/11/2021] [Accepted: 09/12/2021] [Indexed: 11/24/2022] Open
Abstract
Primary central nervous system (CNS) tumors represent the most common solid tumors in childhood. Ependymomas arise from ependymal cells lining the wall of ventricles or central canal of spinal cord and their occurrence outside the CNS is extremely rare, published in the literature as case reports or small case series. We present two cases of extra-CNS myxopapillary ependymomas treated at our institution in the past three years; both cases originate in the sacrococcygeal region and were initially misdiagnosed as epidermoid cyst and germ cell tumor, respectively. The first case, which arose in a 9-year-old girl, was treated with a surgical excision in two stages, due to the non-radical manner of the first operation; no recurrence was observed after two years of follow-up. The other case was a 12-year-old boy who was treated with a complete resection and showed no evidence of recurrence at one-year follow-up. In this paper, we report our experience in treating an extremely rare disease that lacks a standardized approach to diagnosis, treatment and follow-up; in addition, we perform a literature review of the past 35 years.
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Rahimizadeh A, Malekmohammadi Z, Habibollahzadeh P, Williamson WL, Rahimizadeh A. Anaplastic myxopapillary ependymoma of the sacrum: A case report. Surg Neurol Int 2021; 12:285. [PMID: 34221616 PMCID: PMC8247701 DOI: 10.25259/sni_277_2021] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/16/2021] [Accepted: 05/14/2021] [Indexed: 11/04/2022] Open
Abstract
Background Myxopapillary ependymoma (MPE) with anaplastic features is extremely rare. There are very few such case reports in the medical literature. Case Description A 23-year-old female presented with lower back pain, and both urinary and fecal dysfunction. The patient underwent gross total surgical excision of the MR documented expansile intrasacral tumor. The histology was compatible with a MPE containing anaplastic features. Conclusion The medical literature contains a few comparable cases of subcutaneous sacrococcygeal MPE with anaplastic components. Here, however, we have a young female with an anaplastic intrasacral MPE treated with gross total surgical excision.
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Affiliation(s)
- Abolfazl Rahimizadeh
- Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Iran University of Medical Sciences, Tehran, Iran
| | - Zahed Malekmohammadi
- Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Iran University of Medical Sciences, Tehran, Iran
| | - Parviz Habibollahzadeh
- Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Iran University of Medical Sciences, Tehran, Iran
| | - Walter L Williamson
- Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Iran University of Medical Sciences, Tehran, Iran
| | - Ava Rahimizadeh
- Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Iran University of Medical Sciences, Tehran, Iran
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Ramkumar S, Wanniang CA, Wahlang AR, Lamin JCA. Subcutaneous Sacro Coccygeal Myxopapillary Ependymoma: A Case Report and a Comprehensive Review of the Literature Reappraising Its Current Diagnostic Approach and Management. Cureus 2021; 13:e14931. [PMID: 33981517 PMCID: PMC8109842 DOI: 10.7759/cureus.14931] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/05/2022] Open
Abstract
Sacrococcygeal myxopapillary ependymoma (MPE) is an uncommon type I glial tumor detected most frequently in the lumbosacral area of adolescents and children. It is usually presented as an intradural ependymal tumor that originates from the filum terminale and other locations within the ventricular system along the craniospinal axis. In rare cases, however, MPE may develop as a primary subcutaneous tumor in the sacrococcygeal area. Tumors can also appear as a dorsal sacrococcygeal growth or subcutaneous nodule. In this case report, we describe a rare case presenting as a subcutaneous sacrococcygeal mass in an elderly female that was subsequently resected and confirmed as subcutaneous MPE. The current standard treatment for MPE is maximal surgical resection with or without postoperative radiotherapy based on the locoregional extent and histological grading. However, there is limited evidence that radiotherapy for oligometastatic foci improves longevity or extends the time to recurrence. In addition to this case report, we provide a comprehensive review of similar cases and case series in the medical literature. Prospective studies evaluating the efficacy of resection and/or radiotherapy are required for improved management of extradural MPE.
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Gitto L, Serinelli S, Galbraith K, Williams M, Mirchia K, Galgano MA, Krishnamurthy S, de la Roza G, Viapiano MS, Walker JM, Jour G, Serrano J, DeLorenzo M, Snuderl M, Richardson TE. Anaplastic Transformation in Myxopapillary Ependymoma: A Report of 2 Cases and Review of the Literature. J Neuropathol Exp Neurol 2021; 79:1044-1053. [PMID: 32743660 DOI: 10.1093/jnen/nlaa077] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/13/2020] [Revised: 05/04/2020] [Accepted: 06/29/2020] [Indexed: 12/12/2022] Open
Abstract
Myxopapillary ependymoma (MPE) is a relatively common neoplasm arising primarily in the filum terminale/lumbosacral region of the spinal cord. It is designated as a grade I tumor in the most recent WHO Classification of Tumours of the CNS, although aggressive clinical behavior can be observed, especially in cases arising in an extradural location. Anaplastic transformation in MPE is exceedingly rare with <20 examples reported in the English literature, and consensus on diagnostic features and definitive grading remain to be determined. Here, we present 2 cases of recurrent MPE with anaplastic features, both of which had histology consistent with conventional MPE as well as areas with significant atypia, frequent mitotic figures, elevated Ki-67 proliferation indices (>10%-50%), necrosis, and focal vascular proliferation. Targeted next-generation sequencing panels revealed no definitive pathogenic mutations or fusion proteins in either case. Copy number profiling, methylation profiling, and t-Distributed Stochastic Neighbor Embedding were performed to investigate the molecular characteristics of these tumors. To the best of our knowledge, these are the first reported cases of MPE with anaplastic features with methylation profiling data. In addition, we review the literature and discuss common histologic and molecular findings associated with anaplastic features in MPE.
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Planas S, Cruz O, Bejarano M, Albert A, Rovira C, Bombi JA. Extra-axial sacral soft tissue giant cell ependymoma affecting a child: Case report and review of the literature. Neuropathology 2021; 41:139-145. [PMID: 33569822 DOI: 10.1111/neup.12713] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/01/2020] [Revised: 10/04/2020] [Accepted: 10/09/2020] [Indexed: 11/30/2022]
Abstract
An otherwise healthy eight-year-old girl presented with a mass in the soft tissue of the sacral region. The lesion was diagnosed as a vascular malformation on imaging studies, for which percutaneous sclerotherapy was attempted. The mass continued to grow and a complete resection was performed after four years. The pathological diagnosis was giant cell ependymoma (GCE). GCE is a term used to describe a rare histologic variant of ependymoma characterized by malignancy-like morphologic phenotype and indolent behavior. To the best of our knowledge, this is the first case of extra-axial soft tissue sacral GCE reported in a child.
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Affiliation(s)
- Silvia Planas
- Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain
| | - Ofelia Cruz
- Department of Pediatric Oncology, Hospital Sant Joan de Déu, Barcelona, Spain
| | - Miguel Bejarano
- Department of Pediatric Surgery, Hospital Sant Joan de Déu, Barcelona, Spain
| | - Asteria Albert
- Department of Pediatric Surgery, Hospital Sant Joan de Déu, Barcelona, Spain
| | - Carlota Rovira
- Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain
| | - Josep A Bombi
- Department of Pathology, University of Barcelona, Hospital Clinic, Barcelona, Spain
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Fan F, Zhou J, Zheng Y, Liu S, Tang Z, Wang Y. Clinical Features, Treatments, and Prognostic Factors of Spinal Myxopapillary Ependymoma. World Neurosurg 2021; 149:e1105-e1111. [PMID: 33412325 DOI: 10.1016/j.wneu.2020.12.147] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/21/2020] [Revised: 12/24/2020] [Accepted: 12/26/2020] [Indexed: 10/22/2022]
Abstract
OBJECTIVE To investigate the clinical characteristics and factors affecting the prognosis of myxopapillary ependymoma (MPE). METHODS We retrospectively analyzed the clinical data of 24 patients diagnosed with MPE who were surgically treated from January 2010 to January 2020 in the Department of Neurosurgery at Tongji Hospital (Tongji Medical School, Huazhong University of Science and Technology). RESULTS Among the 24 included patients, there were 13 male and 11 female patients. The ages of the included patients ranged from 15 to 59 years old, with an average age of 35.2 years old. The Preoperative McCormick grade included 20 cases (83.3%) that were grade II and 4 cases (16.7%) that were grade III. The follow-up times ranged from 6 months to 10 years, with an average of 50.9 months. The Postoperative McCormick grade included 7 cases (29.2%) that were grade I, 4 cases (16.7%) that were grade II, 12 cases (50%) that were grade III and 1 case (4.2%) that was grade IV. The 1-year, 2-year, and 10-year recurrence rate was 8.3%, 29.2%, 41.7%, respectively. The 1-year, 2-year, and 10-year survival rate was 100%, 100%, 95.8% respectively. χ2 test revealed a significant difference between the degree of surgical resection (P = 0.012 < 0.05). The Kaplan-Meier method found that the degree of tumor resection (P = 0.031 < 0.05) was related to progression-free survival. The Cox analysis revealed there was no significant independent prognostic factors. CONCLUSIONS Our findings suggest that the degree of surgical resection was a key factor that affected the prognosis and neurologic function of the included patients with MPE.
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Affiliation(s)
- FanFan Fan
- Tongji Medical Collage of Huazhong University of Science and Technology
| | - Jun Zhou
- Tongji Medical Collage of Huazhong University of Science and Technology
| | - YiFeng Zheng
- Tongji Medical Collage of Huazhong University of Science and Technology
| | - ShengWen Liu
- Department of Neurosurgery, Tongji Medical School, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China
| | - ZhiJian Tang
- Tongji Medical Collage of Huazhong University of Science and Technology
| | - Yu Wang
- Department of Neurosurgery, Tongji Medical School, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China.
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Kelly A, Nally D, Crowther S, Kavanagh D. Subcutaneous sacrococcygeal myxopapillary ependymoma misdiagnosed as pilonidal disease. BMJ Case Rep 2020; 13:e231639. [PMID: 31900294 PMCID: PMC6954808 DOI: 10.1136/bcr-2019-231639] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 12/20/2019] [Indexed: 01/25/2023] Open
Abstract
Ependymomas are neoplasms which arise from the radial glial cells, which many recent studies have proposed are neural stem cells. Extracranial ependymomas are rare. We present the case report and supporting multimedia of a 37-year-old man who presented with a painless intergluteal swelling which was diagnosed clinically as a pilonidal cyst. However, on excision, he was found to have a subcutaneous sacrococcygeal myxopapillary ependymoma based on histological findings. His management and follow-up are presented and discussed. Given the rare nature of this condition, there is a lack of published guidelines on management and follow-up protocols. Supporting evidence is limited to sporadic case reports. This case highlights the diagnostic challenges and management strategies adopted supported by the best available evidence.
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Affiliation(s)
- Aisling Kelly
- Department of Surgery, Tallaght University Hospital, Dublin, Ireland
| | - Deirdre Nally
- Department of Surgery, Tallaght University Hospital, Dublin, Ireland
| | - Stephen Crowther
- Department of Pathology, Tallaght University Hospital, Dublin, Ireland
| | - Dara Kavanagh
- Department of Surgery, Tallaght University Hospital, Dublin, Ireland
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Abdallah A. Spinal Seeding Metastasis of Myxopapillary Ependymoma: Report of Three Pediatric Patients and a Brief Literature Review. Pediatr Neurosurg 2020; 55:127-140. [PMID: 32777780 DOI: 10.1159/000509061] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/04/2019] [Accepted: 06/02/2020] [Indexed: 11/19/2022]
Abstract
OBJECTIVE Myxopapillary ependymomas (MPEs) in children are rarely reported low-grade glial tumors; however, MPEs sometimes possess malignant characteristics such as spinal seeding/drop metastasis (SSM). We aimed to present 3 pediatric MPE cases that experienced SSM at 2 neurosurgical centers. MATERIALS AND METHODS We retrospectively reviewed the medical records of 38 primary spinal MPE cases who underwent surgery at 2 neurosurgical centers spanning 16 years, from 2004 to 2019. All pediatric cases (patient age <18 years) who were diagnosed with MPE and re-presented with SSM were selected as the core sample for this study. Relevant literature was briefly reviewed. RESULTS Three pediatric MPE cases (2 females and 1 male) experienced SSM. The mean age at first presentation was 12.0 ± 1.0 years. The mean preoperative course was 2.9 ± 1.2 months. The predominant location was the lumbar spine in 2 tumors (both originated from terminal filum [TF]). Two tumors were located intradural intramedullary. Gross-total resection was achieved in 2 patients. No patient had neurofibromatosis type 2. No adjuvant treatment was given after the first surgery. The mean period between the first diagnosis and diagnosis of SSM was 44.0 ± 31.5 months. The location of SSM in all patients was the sacral spine (1 patient experienced distant metastasis in her brain besides her sacral metastasis). The mean follow-up was 68.3 ± 53.7 months. CONCLUSIONS We found a statistically significant relationship between SSM in pediatric MPEs and the intramedullary location, TF origin, and number of affected segments. Close clinical and radiological follow-up is essential for pediatric MPE patients.
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Affiliation(s)
- Anas Abdallah
- Department of Neurosurgery, Bezmialem Vakif University, Istanbul, Turkey,
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13
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Abdallah A, Emel E, Gündüz HB, Sofuoğlu ÖE, Asiltürk M, Abdallah BG. Long-Term Surgical Resection Outcomes of Pediatric Myxopapillary Ependymoma: Experience of Two Centers and Brief Literature Review. World Neurosurg 2019; 136:e245-e261. [PMID: 31899399 DOI: 10.1016/j.wneu.2019.12.128] [Citation(s) in RCA: 22] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/28/2019] [Revised: 12/20/2019] [Accepted: 12/21/2019] [Indexed: 11/26/2022]
Abstract
BACKGROUND Myxopapillary ependymoma (MPE) is a rarely reported lesion of the spinal cord in the pediatric population. Based on their low mitotic index and slow-growth, MPEs are classified as low-grade glial tumors. However, MPEs have malignant characteristics, such as distant neural axis and extraneural axis dissemination. We present the long-term surgical resection outcomes of 5 consecutive pediatric MPE cases and the results of a literature search for reported cases of pediatric spinal MPE. METHODS We retrospectively reviewed the medical records of 38 primary spinal MPE cases who underwent surgery at 2 neurosurgical centers over a 16-year period from January 2004 to January 2019. All pediatric cases (age <18 years; n = 5) who were diagnosed with MPE composed the core sample for this study. RESULTS This series comprised 5 patients (3 females and 2 males), with a mean age at first presentation of 13.6 ± 2.3 years. The mean preoperative course was 8.2 ± 9.3 months. The predominant location was the lumbar spine, for 4 tumors. Gross total resection (GTR) was achieved in 4 patients. All patients were diagnosed histopathologically as MPE, World Health Organization grade I. No adjuvant treatment was provided after the first surgery. Three patients experienced spinal drop metastasis. The mean interval between the first diagnosis and diagnosis of neural dissemination was 44.0 ± 31.5 months. The location of neural dissemination in all patients was the sacral spine; 1 patient experienced distant metastasis in the brain along with her sacral metastasis. The mean duration of follow-up was 75.0 ± 37.6 months. CONCLUSIONS Even with GTR, pediatric MPE has a high propensity for neural axis dissemination. We recommend close clinical and radiologic follow-up for pediatric patients with MPE.
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Affiliation(s)
- Anas Abdallah
- Department of Neurosurgery, Bezmialem Vakif University, Istanbul, Turkey.
| | - Erhan Emel
- Department of Neurosurgery, University of Health Sciences, Bakırköy Research and Training Hospital for Neurology, Neurosurgery, and Psychiatry, Istanbul, Turkey
| | - Hasan Burak Gündüz
- Department of Neurosurgery, University of Health Sciences, Bakırköy Research and Training Hospital for Neurology, Neurosurgery, and Psychiatry, Istanbul, Turkey
| | - Özden Erhan Sofuoğlu
- Department of Neurosurgery, University of Health Sciences, Bakırköy Research and Training Hospital for Neurology, Neurosurgery, and Psychiatry, Istanbul, Turkey
| | - Murad Asiltürk
- Department of Neurosurgery, University of Health Sciences, Bakırköy Research and Training Hospital for Neurology, Neurosurgery, and Psychiatry, Istanbul, Turkey
| | - Betül Güler Abdallah
- Department of Neurosurgery Intensive Care Unit, University of Health Sciences, Bakırköy Research and Training Hospital for Neurology, Neurosurgery, and Psychiatry, Istanbul, Turkey
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14
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Lee JC, Sharifai N, Dahiya S, Kleinschmidt-DeMasters BK, Rosenblum MK, Reis GF, Samuel D, Siongco AM, Santi M, Storm PB, Ferris SP, Bollen AW, Pekmezci M, Solomon DA, Tihan T, Perry A. Clinicopathologic features of anaplastic myxopapillary ependymomas. Brain Pathol 2019; 29:75-84. [PMID: 30417460 DOI: 10.1111/bpa.12673] [Citation(s) in RCA: 22] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/08/2018] [Accepted: 10/29/2018] [Indexed: 12/15/2022] Open
Abstract
Myxopapillary ependymomas (MPE) are considered benign (World Health Organization (WHO) grade I) neoplasms with favorable prognosis. However, malignant behavior occurs in a small subset. To our knowledge, only five anaplastic MPEs have been reported without consensus on diagnostic criteria. We retrieved 14 anaplastic MPEs from the pathology archives of six institutions. Each tumor included at least two of the following features: ≥5 mitoses per 10 high power fields, Ki-67 labeling index (LI) ≥10%, microvascular proliferation (MVP) and spontaneous necrosis. These features were typically encountered in the foci of hypercellularity and reduced mucin. There were eight male and six female patients (age range 6-57 years, median = 16.5). Ten tumors displayed anaplasia at initial resection, and 4 were anaplastic at a second surgery for recurrence (ranging from 9 months to 14 years following initial resection). The Ki-67 LI ranged between 8% and 40% in the anaplastic foci and <3% in the foci of classic MPE. There was documented cerebrospinal fluid (CSF) dissemination in seven cases, recurrence following an anaplastic diagnosis in three cases and bone or soft tissue invasion in two cases. One patient suffered lung metastases. Two cases evaluated by targeted next-generation sequencing and one evaluated by fluorescence in situ hybridization (FISH) showed nonspecific chromosomal gains. We conclude that although rare, anaplastic MPE occurs in both pediatric and adult patients, similar to other ependymomas. At a minimum, closer follow-up is recommended, given the concern for aggressive biologic potential. Further study is needed to determine WHO grading criteria and genetic indicators of tumor progression.
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Affiliation(s)
- Julieann C Lee
- Department of Pathology, University of California, San Francisco, CA
| | - Nima Sharifai
- Division of Neuropathology, Department of Pathology and Immunology, Washington University, St. Louis, MO
| | - Sonika Dahiya
- Division of Neuropathology, Department of Pathology and Immunology, Washington University, St. Louis, MO
| | | | - Marc K Rosenblum
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY
| | - Gerald F Reis
- Department of Pathology, Memorial Healthcare System, Hollywood, FL
| | - David Samuel
- Neuro-oncology, Valley Children's Hospital, Madera, CA
| | - Aleli M Siongco
- Department of Pathology, Valley Children's Hospital, Madera, CA
| | - Mariarita Santi
- Department of Pathology, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA
| | - Phillip B Storm
- Division of Neurosurgery, The Children's Hospital of Philadelphia, Philadelphia, PA
| | - Sean P Ferris
- Department of Pathology, University of California, San Francisco, CA
| | - Andrew W Bollen
- Department of Pathology, University of California, San Francisco, CA
| | - Melike Pekmezci
- Department of Pathology, University of California, San Francisco, CA
| | - David A Solomon
- Department of Pathology, University of California, San Francisco, CA.,Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA
| | - Tarik Tihan
- Department of Pathology, University of California, San Francisco, CA
| | - Arie Perry
- Department of Pathology, University of California, San Francisco, CA
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15
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Abstract
Background The aim of this study was to assess the clinical and radiological outcomes of surgical treatment for primary spinal ependymoma in children. Material/Methods Medical records of 46 primary spinal ependymoma patients who underwent surgery in BRSHH hospital during a 12-year period from 2004 to 2015 were retrospectively reviewed. All pediatric patients (patient age <18 years) were selected as the core sample used for this study. Results This series included 1 female and 2 male patients between the ages of 9 and 17 years with mean age 13.3±3.9 years. The mean preoperative course was 9.1±10.5 months. The most common location was the lumbar spinal cord (n=2). The most common presenting symptoms was lower-limb weakness and numbness. Two tumors were located intradural-intramedullary and 1 was located intradural-extramedullary. Gross-total resection (GTR) was achieved in 2 patients, and a near-total resection was performed in 1 patient. No adjuvant treatment was received. The mean follow-up duration was 51.3±37.6 (17–98) months. No complications were recorded. Functional assessment of all patients by the latest follow-up evaluation showed good progress even though the patient is not fully recovered. At 6.3 years after the first operation, 1 patient presented with drop-seeding metastasis. No patients had neurofibromatosis type 2. Conclusions Laminoplasty and intraoperative neurophysiological monitorization are essential in surgical treatment of pediatric spinal ependymomas. GTR and recovery in pediatric spinal ependymoma are more likely than in adults. Despite the GTR, the risk of drop metastasis remains. Therefore, close clinical and radiological follow-up is recommended.
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Affiliation(s)
- Özden Erhan Sofuoğlu
- Department of Neurosurgery, Health Science University, Bakirköy Research and Training Hospital for Neurology Neurosurgery and Psychiatry, Istanbul, Turkey
| | - Anas Abdallah
- Department of Neurosurgery, Bezmialem Vakif University, Istanbul, Turkey
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16
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Huynh TR, Lu C, Drazin D, Lekovic G. Myxopapillary ependymoma with anaplastic features: A case report with review of the literature. Surg Neurol Int 2018; 9:191. [PMID: 30294495 PMCID: PMC6169347 DOI: 10.4103/sni.sni_422_17] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/15/2017] [Accepted: 06/04/2018] [Indexed: 12/17/2022] Open
Abstract
Background: Myxopapillary ependymoma (MPE) with anaplastic features is extremely rare, with only three case reports in the literature. Case Description: We report the case of a MPE with anaplastic features in a 24-year-old female who presented with a dominant lumbar mass along with intracranial and sacral metastases. Upon gross total resection of the dominant tumor located at L2-L3, it appeared to arise from the filum terminale, and had a solid component in addition to soft or necrotic areas. Histologically, the tumor was composed of the two classic components of MPE: (1) low-grade ependymal cells surrounding blood vessels, producing the papillary appearance and (2) perivascular myxoid material between blood vessels and ependymal cells, creating the myxopapillary appearance. The high-grade anaplastic component showed hypercellularity, brisk mitotic rate, and vascular proliferation, with frequent pleomorphic cells and atypical mitotic figures. It was positive for vimentin and glial fibrillary acidic protein (GFAP); negative for epithelial membrane antigen (EMA), CAM5.2, creatine kinase 7 (CK7), CK20; and the MIB-1 index (Ki-67) was 8–38%. Ten months after initial resection, follow-up magnetic resonance imaging revealed new lesions in (1) the hypothalamus, (2) the left pons, and (3) the left medial temporal lobe, which were treated with radiosurgery. Eight months later (18 months from initial surgery), the patient underwent thoracic laminectomy for a large leptomeningeal metastasis at T6 and T8. Conclusion: The present case of MPE with anaplastic features is the fourth case on record in the medical literature.
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Affiliation(s)
- Tridu R Huynh
- Department of Neurosurgery, Cedars-Sinai Medical Center, Los Angeles, California, USA
| | - Conrad Lu
- Department of Pathology, St. Vincent Medical Center, Los Angeles, California, USA
| | - Doniel Drazin
- Swedish Neuroscience Institute, Swedish Medical Center, Seattle, Washington, USA
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17
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Schiavello E, Biassoni V, Antonelli M, Modena P, Cesaro S, Pierani P, Gandola L. Pediatric extraspinal sacrococcygeal ependymoma (ESE): an Italian AIEOP experience of six cases and literature review. Childs Nerv Syst 2018; 34:1291-1298. [PMID: 29725826 DOI: 10.1007/s00381-018-3805-y] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/28/2018] [Accepted: 04/12/2018] [Indexed: 01/29/2023]
Abstract
BACKGROUND Primary pediatric extraspinal sacrococcygeal ependymoma (ESE) is a very rare disease, poorly described in literature, whose diagnostic, therapeutic, and follow-up approach is still controversial. METHODS We describe six cases of pediatric ESE treated at Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) centers in Italy since 1983, with a review of the literature. RESULTS All six patients had primary sacrococcygeal disease (two presacral and four subcutaneous) with median age of 10 years. Three patients were males, and two of them are metastatic at diagnosis; 3/6 had myxopapillary ependymoma grade I and 3/6 had classic ependymoma grade II. Five patients underwent surgical resection with complete removal only in one case with coccygectomy. Adjuvant chemoradiotherapy was administered to one metastatic patient obtaining a complete remission. Two patients relapsed at 3 and 8 years from diagnosis: they were treated with salvage chemotherapy (high-dose sequential chemotherapy with myeloablative regimen in one case), surgery, and radiotherapy achieving complete remission (CR). All six patients are in complete continuous remission (CCR) at a median follow-up of 12.8 years. CONCLUSIONS Pediatric patients with this peculiar disease need to be referred to specialized pediatric cancer centers that can provide multidisciplinary treatment after a centralized pathology review. Our experience highlights the role of chemotherapy and radiotherapy in adjuvant and relapse setting. The final prognosis is relatively optimistic, but with a careful follow-up due to the high risk of recurrence.
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Affiliation(s)
- Elisabetta Schiavello
- Pediatric Oncology Unit, Department of Hematology and Pediatric Hematology-Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
| | - Veronica Biassoni
- Pediatric Oncology Unit, Department of Hematology and Pediatric Hematology-Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Manila Antonelli
- Department of Radiological, Oncological and Anatomo-Pathological Sciences, Sapienza, University of Rome, Rome, Italy
| | | | - Simone Cesaro
- Department of Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, Policlinico G.B. Rossi, Verona, Italy
| | - Paolo Pierani
- Division of Pediatric Hematology and Oncology, Ospedale G.Salesi, Ancona, Italy
| | - Lorenza Gandola
- Department of Radiology and Radiotherapy, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
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18
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Rogers S, Jones DTW, Ireland A, Gottardo NG, Endersby R. Unusual paediatric spinal myxopapillary ependymomas: Unique molecular entities or pathological variations on a theme? J Clin Neurosci 2018; 50:144-148. [PMID: 29402569 DOI: 10.1016/j.jocn.2018.01.048] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/15/2017] [Accepted: 01/08/2018] [Indexed: 02/07/2023]
Abstract
Ependymomas are the commonest type of spinal glioma which represent a group of relatively benign tumours. Myxopapillary ependymoma (MPE) is a common variant found within the distal spinal cord around the conus. These two entities are clearly differentiated on the basis of their characteristic histological and molecular features. Rare variants of MPE's are described in the literature to have the propensity to metastasise and grow in extraspinal locations despite appearing histologically identical to their more benign relatives. Here, we describe two unusual cases of MPE and utilise DNA methylation analyses to compare their molecular signatures with known molecular subtypes of ependymoma in an attempt to distinguish whether these tumours represent a unique subset of disease.
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Affiliation(s)
- Sasha Rogers
- Telethon Kids Institute, Perth, WA, Australia; Centre for Child Health Research, University of Western Australia, Perth, WA, Australia; Department of Neurosurgery, Princess Margaret Hospital, Perth, WA, Australia.
| | - David T W Jones
- Division of Paediatric Neuro-oncology, German Cancer Research Centre (DKFZ), Heidelberg, Germany; Hopp-Children's Tumour Centre at the NCT Heidelberg, Heidelberg, Germany
| | - Amanda Ireland
- Department of Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Perth, WA, Australia
| | - Nick G Gottardo
- Telethon Kids Institute, Perth, WA, Australia; Centre for Child Health Research, University of Western Australia, Perth, WA, Australia; Department of Oncology, Princess Margaret Hospital, Perth, WA, Australia
| | - Raelene Endersby
- Telethon Kids Institute, Perth, WA, Australia; Centre for Child Health Research, University of Western Australia, Perth, WA, Australia
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19
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Cimino PJ, Agarwal A, Dehner LP. Myxopapillary ependymoma in children: a study of 11 cases and a comparison with the adult experience. Pediatr Blood Cancer 2014; 61:1969-71. [PMID: 25066546 DOI: 10.1002/pbc.25125] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/17/2014] [Accepted: 05/11/2014] [Indexed: 11/11/2022]
Abstract
BACKGROUND Myxopapillary ependymomas (MEPN) are uncommon tumors of the central nervous system, mainly occurring within the conus medullaris-filum terminale. MEPNs can also present in the skin and underlying soft tissues of the sacrococcygeal region. The incidence of extramedullary MEPNs in children is unclear. PROCEDURE We retrospectively reviewed our institutional files for MEPN cases between the years 1990-2012. A total of 11 pediatric and 38 adult cases were identified and compared to determine differences between these two distinct age groups. RESULTS There were 40 (82%) tumors arising in the spine and nine (18%) in extramedullary sites. Pathologic examination revealed that extramedullary and spinal MEPNs were indistinguishable morphologically and immunophenotypically. Among the 11 children with MEPNs, seven had tumors presenting in extramedullary sites whereas only two adults (5%) had extramedullary tumors; this difference was highly significant (P < 0.0001). The lumbosacral portion of the spinal cord was the primary site for the remaining 40 MEPNs, four (10%) of which presented in children. One extramedullary MEPN (9%) recurred in a 45-year-old woman, and five (11%) of 40 spinal tumors recurred and/or metastasized; two of four children with spinal MEPNs developed recurrences and a manifestation to the aggressive nature of the latter tumor in the spinal cord of children. CONCLUSIONS Based upon our experience, MEPN in children is more likely to present in the extramedullary soft tissues of the sacrococcygeal region where its behavior is more indolent than those tumors arising in the spinal cord in children.
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Affiliation(s)
- Patrick J Cimino
- Lauren V. Ackerman Laboratory of Surgical Pathology, St. Louis Children's Hospital, Washington University Medical Center, St. Louis, Missouri
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