|Year : 2022 | Volume
| Issue : 2 | Page : 197-199
A rare tumor case in an adult patient with neurofibromatosis: Lumbar ependymoma
H Yakar1, B Ertugrul2, M Kaplan2
1 Niğde Ömer Halisdemir University Training and Research Hospital, Niğde, Turkey
2 Department of Neurosurgery, Fırat University, Elazığ, Turkey
|Date of Submission||15-Feb-2021|
|Date of Acceptance||24-May-2021|
|Date of Web Publication||16-Feb-2022|
Dr. H Yakar
Niğde Ömer Halisdemir University Training and Research Hospital, 51240, Niğde
Source of Support: None, Conflict of Interest: None
| Abstract|| |
In patients with type 1 neurofibromatosis (NF1), there is an increased susceptibility to tumor development in the central nervous system due to the loss of neurofibromin, an inactivator of the protooncogene Ras. NF1 has a broad clinical spectrum,which includes spinal tumors. Although the most common intramedullary tumor of the spinal cord in adults is ependymoma, few patients with NF1 accompanied by spinal ependymoma have been reported to date, and the localization of the tumors is cervical and thoracic in these cases. In this study, we report the case of a patient with NF1 presenting to our clinic with low back pain and gait disturbance. The patient had an intradural extramedullary ependymoma at the L2-3 vertebra level. This report is the first case of NF1 with spinal ependymoma localized in the lumbar region.
Keywords: Ependymoma, neurofibromatosis, spine
|How to cite this article:|
Yakar H, Ertugrul B, Kaplan M. A rare tumor case in an adult patient with neurofibromatosis: Lumbar ependymoma. Niger J Clin Pract 2022;25:197-9
| Introduction|| |
Type-1 neurofibromatosis (NF1), which belongs to the group of neurocutaneous disorders (phacomatoses), accounts for 90% of neurofibromatoses and is the most common neurocutaneous syndrome. The diagnosis of NF1 is based on clinical symptoms and genetic analysis and has a broad clinical spectrum. NF1 is an inherited tumor susceptibility syndrome, and there is an increased susceptibility to tumor development in both central nervous and peripheral nervous system. In patients with NF1, gliomas may occur anywhere in the neuroaxis, including in the spinal cord.
Although ependymomas are one of the most common intramedullary tumors of the spinal cord in adults, intradural-extramedullar (IDEM) localization is rarely seen. Furthermore, few cases of NF1 accompanied by spinal ependymoma have been reported to date. In this study, we present a case of NF1 with intradural-extramedullary ependymoma at lumbar 2–3 (L2–3) level for the first time in the literature.
| Case Presentation|| |
A 43-year-old male patient with complaints of low back pain and gait disturbance for the previous month presented to our clinic. Physical examination revealed milky-brown spots on the torso, freckles in the axial region, and lesions consistent with diffuse neurofibroma on subcutaneous tissue. Neurological examination revealed 3/5 muscle strength in the right ankle in dorsiflexion and no other neurological findings. Contrast-enhanced magnetic resonance imaging (MRI) of the lumbar spine revealed a 30 × 15-mm lesion with IDEM localization at the L2–3 vertebrae level with heterogeneous contrast enhancement [Figure 1]. The patient underwent surgery with a prediagnosis of spinal neurofibroma, and the intradural-extramedullary mass was totally resected. No additional deficit was noted in the postoperative neurological examination. The pathology result was reported as myxopapillary ependymoma (grade I) [Figure 2]. Imaging revealed no other cranial and spinal lesions in the central nervous system. No recurrence was observed in the control MRI of the lumbar spine 1 year after surgery [Figure 3].
|Figure 1: MRI image of the preoperative intradural-extramedullary mass at L2–3 level|
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|Figure 3: Microscopic image of the tumor at L2–3 level. Pathology was reported as myxopapillary ependymoma (grade I)|
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NF1 and NF2 mutations were investigated by whole gene sequence analysis. In the gene analysis, NF1 mutation was detected, and the patient suspected for NF type 1 with clinical diagnosis was also diagnosed by genetic analysis.
| Discussion|| |
NF1 has a heterozygous mutation of NF1 on chromosome 17q11.17. NF1, which is located in the 17q11.2 region of the long arm of chromosome 17 and encodes and synthesizes neurofibromin. Because this protein is a proto-oncogene Ras inhibitor, NF1 dysfunction leads to tumor development. In addition, NF1 germ-line mutation leads to tumor formation. Therefore, patients with NF1 have a predisposition to both benign (more frequently) and malignant tumors.,
Spinal cord ependymomas are the most common intramedullary tumors, accounting for 60% of all spinal cord tumors in adults. Because ependymomas originate from ependymal cells localized in the central canal of the spinal cord, they are completely localized in the spinal cord (intradural intramedullar), and IDEM localization is very rare for these tumors. The histogenesis of IDEM spinal ependymomas has not yet been fully elucidated; however, they are thought to originate from heterotopic ependymal cells that are trapped in the neural tube during neural arch closure. The presence of ependymomas with extra-spinal localization also supports this hypothesis. Most intradural-extramedullary spinal ependymomas are localized in the thoracic region.,
Intradural-extramedullary ependymomas occur independent of age but are frequently seen in the third-to-fifth decades of life.,,, They are not different from intradural-extramedullary tumors that are common in clinical presentation.,, Pain and progressive medullary compressions are usually reported. In the present case, the preliminary diagnosis was NF1-related neurinoma. Meningiomas and neurinomas are the most common tumors with IDEM localization. However, because of the similarity of radiological imaging and clinical findings, as in the present case, ependymoma should also be considered as a differential diagnosis of NF1.
Histological variants of intramedullary spinal cord tumors differ in NF types. Although spinal ependymoma is pathogonomic for NF2, it has been rarely reported in patients with NF1. To date, very few cases accompanied by ependymoma have been reported in the literature, and they are localized in the cervical and thoracic regions.,, The present case is the first case of NF1 with spinal ependymoma localized in the lumbar region in the literature.
Is there a connection between NF1 and ependymoma or is this cooccurrence a coincidence? It is difficult to make such an inference. We think that the scarcity of cases is an important factor in our inability to define the relationship between NF1 and spinal ependymoma. An increase in the number of NF1 cases accompanied by ependymoma will play an important role in defining this relationship. This increases the significance of the findings presented in this report.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Bulduk EB, Börcek AÖ. Neurocutaneous syndromes-phacomatoses. Türk Nöroşirürji Dergisi 2017;27:131-6.
Rasmussen SA, Friedman JM. NF1 gene and neurofibromatosis 1. Am J Epidemiol 2000;151:33-40.
Rodriguez FJ, Perry A, Gutmann DH, O'Neill BP, Leonard J, Bryant S, et al.
Gliomas in neurofibromatosis type 1: A riguez FJ, Perry A, Gutmann DH, O'Neill clinicopathologic study of 100 patients. J Neuropathol Exp Neurol. 2008;67:240-9.
Liao D, Zhang J, Chen H. Rare giant intradural extramedullary ependymoma. World Neurosurg 2018;111:139-41.
Brems H, Beert E, De Ravel T, Legius E. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol 2009;10:508-15.
Cnossen MH, van der Est MN, Breuning MH, van Asperen CJ, Breslau-Siderius EJ, van der Ploeg AT. Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat 1997;9:458-64.
Cooper IS, Craig WM, Kernohan JW. Tumors of the spinal cord. Primary extramedullary gliomas. Surg Gynecol Obstet 1951;92:183-90.
Duffau H, Gazzaz M, Kujas M, Fohanno D. Primary intradural extramedullary Ependymoma: Case report and review of the literature. Spine (Phila Pa 1976) 2000;25:1993-5.
Robles SG, Saldana C, Boto GR, Martinez A, Zamarron AP, Jorquera M, et al
. Intradural extramedullary spinal ependymoma: A benign pathology? Spine (Phila Pa 1976) 2005;30:251-4.
Benzagmout M, Boujraf S, Oulali N, Chbani L, Amarti A, Chakour K, et al
. Intradural extramedullary ependymoma: Is there constantly a hormonal relationship? Surg Neuro 2008;70:536-8.
Schuurmans M, Vanneste JA, Verstegen MJ, van Furth WR. Spinal extramedullary anaplastic ependymoma with spinal and intracranial metastases. J Neurooncol 2006;79:57-9.
Wagle WA, Jaufman B, Mincy JE. Intradural extramedullary ependymoma: MR-pathologic correlation. J Comput Assist Tomogr 1988;12:705-7.
Wahab SH, Simpson JR, Michalski JM, Mansur DB. Long term out come with post-operative radiation therapy for spinal canal ependymoma. J Neurooncol 2007;83:85-9.
Wolfla CE, Azzarelli B, Shah MV. Primary extramedullary ependymoma of the thoracic spine. Case illustration. J Neurosurg 1997;87:643.
Kushel' YV, Belova YD, Tekoev AR. Intramedullary spinal cord tumors and neurofibromatosis. Problems Neurosurg Named N. N. Burdenko 2017;62-65.
Sharma AS, Emery ME, Metcalfe KM, Sabin HIS, Drake WMD. A case of thoracic cord ependymoma in neurofibromatosis type 1. Endocrine Abstracts 2006;12:P17.
Cheng H, Shan M, Feng C, Wang X. Spinal cord ependymoma associated with neurofibromatosis 1: Case report and review of the literature. Korean Neurosurg Soc 2014;55:43-7.
[Figure 1], [Figure 2], [Figure 3]