- Email: [email protected]
Peripheral Primitive Neuroectodermal Tumour (pPNET) in the cervical spine
Case Reports / Journal of Clinical Neuroscience 17 (2010) 259–261
signs. Although most patients with acromegaly have poor Mallampati grade due to soft tissue overgrowth and macroglossia, this does not necessarily signify a difficult intubation. This finding needs further corroboration by a large study to evaluate the role of the ULB test in patients with acromegaly. References 1. Bhansali A, Sharma BS, Sreenivasulu P, et al. Acromegaly with fibrous dysplasia: McCune-Albright Syndrome–clinical studies in 3 cases and brief review of literature. Endocr J 2003;50:793–9. 2. Dou W, Lin N, Ma W, et al. Transsphenoidal surgery in a patient with acromegaly and McCune-Albright syndrome: application of neuronavigation. J Neurosurg 2008;108:164–9. 3. Cormack RS, Lehane J. Difficult tracheal intubation in obstetrics. Anaesthesia 1984;39:1105–11. 4. Langer RA, Yook I, Capan LM. Anesthetic considerations in McCune-Albright syndrome: case report with literature review. Anesth Analg 1995;80:1236–9.
259
5. Christoforidis A, Maniadaki I, Stanhope R. McCune-Albright syndrome: growth hormone and prolactin hypersecretion. J Pediatr Endocrinol Metab 2006;19:623–5. 6. Tse JC, Rimm EB, Hussain A. Predicting difficult endotracheal intubation in surgical patients scheduled for general anesthesia: a prospective blind study. Anesth Analg 1995;81:254–8. 7. Khan ZH, Gharabaghian M, Nilli F, et al. Easy endotracheal intubation of a patient suffering from both Cushing’s and Nelson’s syndromes predicted by the upper lip bite test despite a Mallampati Class 4 airway. Anesth Analg 2007;105:786–7. 8. Khan ZH, Kashfi A, Ebrahimkhani E. A comparison of the upper lip bite test (a simple new technique) with modified Mallampati classification in predicting difficulty in endotracheal intubation: a prospective blinded study. Anesth Analg 2003;96:595–9. 9. Eberhart LH, Arndt C, Cierpka T, et al. The reliability and validity of the upper lip bite test compared with the Mallampati classification to predict difficult laryngoscopy: an external prospective evaluation. Anesth Analg 2005;101:284–9.
doi:10.1016/j.jocn.2009.05.020
Peripheral Primitive Neuroectodermal Tumour (pPNET) in the cervical spine H.S. Alexander a,*, C. Koleda c, M.K. Hunn b a b c
Capital and Coast District Health Board, Wellington Hospital Riddiford Street, Newtown, Wellington 6021, New Zealand Department of Neurosurgery, Wellington Hospital, Wellington, New Zealand Department of Anatomic Pathology, Capital and Coast District Health Board, Wellington, New Zealand
a r t i c l e
i n f o
Article history: Received 2 March 2009 Accepted 6 May 2009
a b s t r a c t Primary spinal primitive neuroectodermal tumours are rare. We present a 45-year-old man with a peripheral primitive neuroectodermal tumour arising in the cervical spine. We believe this to be the first report of this type of tumour in the cervical spine. Ó 2009 Elsevier Ltd. All rights reserved.
Keywords: Cervical spine Primitive neuroectodermal tumour
1. Introduction Primitive neuroectodermal tumour (PNET) was a term introduced to describe embryonal central nervous system (CNS) tumours that are morphologically indistinguishable from medulloblastoma but occur outside the cerebellum.1 Intracranial PNET is rare and is typically seen in children and adolescents.2 PNETs are classified as central or peripheral.3 Central PNET (cPNET) is located within the CNS outside the posterior fossa. Peripheral PNET (pPNET) is a soft tissue tumour outside the CNS that is closely related to Ewing’s tumour.4,5 The histological appearance of cPNET and pPNET are similar; however, they display differing cytogenetics and immunoreactivity.2,5 Spinal PNET tumours are very rare, often without the distinction being made between central and peripheral types.6 We present a patient with a spinal pPNET arising in the cervical spinal cord. 2. Case report A 45-year-old Maori man presented with 3 days of right hemiparesis. On questioning he reported 2 weeks of paraesthesia and * Corresponding author. Tel.: +64 4 385 5999; fax: +64 4 385 5456. E-mail address: [email protected] (H.S. Alexander).
dysesthesia in his right upper limb and 4 months of neck pain. On examination he had a flaccid right arm with 0/5 power and 2/ 5 power in the right leg with brisk lower limb reflexes bilaterally. MRI of the spine revealed an intradural extramedullary tumour from C3 to C5, lying anterolateral to the cord on the right causing severe cord compression (Fig. 1). The intradural lesion was contiguous with a soft tissue mass within the right C3/4 foramen. The tumour enhanced homogeneously with gadolinium. High dose steroids were started and a C3/5 laminectomy and a subtotal resection of the tumour was performed. Intraoperatively there was a small amount of firm grey fleshy extradural tumour enveloping the C4 nerve root. Intradurally there was again fleshy grey extramedullary tumour from C4 to C6. This was semi-encapsulated and densely adherent to the cord, nerve rootlets and the lateral aspect of the dural thecal sac. A small amount of tumour was left attached to the anterolateral aspect of the cord. The frozen section analysis reported a small blue cell tumour possibly consistent with lymphoma; therefore, aggressive resection was not attempted. Histology confirmed small round blue tumour cells with a small amount of cytoplasm (Supplementary Fig. 1). The tumour showed dense fibrous connective tissue present between large sheets of cells. Periodic acid Schiff (PAS)/diastase staining demonstrated cytoplasmic glycogen (Supplementary Fig. 1). Immunohistochemi-
260
Case Reports / Journal of Clinical Neuroscience 17 (2010) 259–261
reported cases suggests that maximal safe debulking followed by local radiotherapy and possibly craniospinal irradiation gives the best survival.20 Local recurrence was recorded in six of the 10 reported patients with spinal pPNET, with distant metastasis (two spinal, one intracranial) seen in three patients.6,20–22,25 Four patients remained alive and disease free at reporting with followup times of 4 to 23 months.6,22–24 Longest recorded survival was 72 months after three resections and chemo/radiotherapy.6 Primary spinal pPNET remains a rare and aggressive tumour without a standardised or effective treatment.
Appendix A. Supplementary data
Fig. 1. (a) Sagittal and (b) axial T1-weighted MRI with gadolinium contrast showing an intradural extramedullary tumour from C3 to C5, lying anterolateral to the cord on the right causing severe cord compression.
Supplementary data associated with this article can be found, in the online version, at doi:10.1016/j.jocn.2009.05.020.
References cally the tumour was CD99 and neuron-specific enolase positive (Supplementary Fig. 1) with faint S-100 positivity and was negative for synaptophysin, chromogranin, glial fibrillary acidic protein, cytokeratin (CK) AE1/3, CAM5.2 and lymphoid markers. Appearances were consistent with a PNET. Fluorescent in situ hybridisation analysis showed complete EWSR1 gene rearrangement confirming the diagnosis of pPNET. Post-operatively the patient’s deficits improved and he was referred for radiotherapy. He was readmitted 4 weeks later with rapidly progressing tetraparesis. Emergency radiotherapy was commenced and a total of 12 Gy were delivered to the cervical spine followed by entire neuroaxis irradiation to a dose of 36 Gy. A top-up dose of 6 Gy was delivered to the cervical spinal cord giving a total dose to the involved segment of 54 Gy in 30 fractions. The patient showed significant improvement following radiotherapy and he was independently mobile with a right arm monoplegia. One year post initial presentation he re-presented with a palpable right neck mass with associated arm and facial pain. MRI showed extensive recurrence in the paravertabral soft tissues with intraspinal extension. He was treated palliatively and was still alive 13 months post presentation.
3. Discussion Primary spinal PNET is a rare tumour with only 30 reported cases. In older studies the distinction between peripheral and central PNETs was not made.7–19 There are 9 reported cases of confirmed primary spinal pPNET.6,20–25 In this patient our impression was of a primarily extramedullary lesion arising from the C4 nerve root, with secondary attachment to the pia of the spinal cord. The extradural extension of the tumour supports an origin from the nerve root. This is another example of a primary spinal pPNET and is the first report of its occurrence in the cervical spine. Many of the cases available for review have incomplete clinical and histological data. Consistent features of spinal PNETs are a rapidly progressive clinical course with symptoms of local pain and neurological deficits related to the site of the tumour.6–25 The tumours are isodense on T1-weighted MRI and homogenously enhance with gadolinium.6,7,15,20–22,24,25 Intraoperatively the lesion is described as a red/grey fleshy tumour adherent to surrounding tissues.7,12 Spinal PNETs have both extra- and intradural components.7,8,12,15,20–22,24,25 Optimum treatment of primary spinal pPNET is unclear. Many reported cases have short follow-up times making evaluation of survival and effectiveness of treatment difficult. A review of
1. Hart MN, Earle KM. Primitive neuroectodermal tumors of the brain in children. Cancer 1973;32:890–7. 2. Rorke LB, Hart MN, McLendon RE. Supratentorial primitive neuroectodermal tumour (PNET). In: Kleihues P, Cavenee WK, editors. Pathology and genetics of tumours of the nervous system, WHO classification of tumours. Lyon: IARC Press; 2000. 3. Tsokos M. Peripheral primitive neuroectodermal tumors. Diagnosis, classification, and prognosis. Perspect Pediatr Pathol 1992;16:27–98. 4. Hadfield MG, Quezado MM, Williams RL, et al. Ewing’s family of tumors involving structures related to the central nervous system: a review. Pediatr Dev Pathol 2000;3:203–10. 5. Ladanyi M, Lewis R, Garin-Chesa P, et al. EWS rearrangement in Ewing’s sarcoma and peripheral neuroectodermal tumor. Molecular detection and correlation with cytogenetic analysis and MIC2 expression. Diagn Mol Pathol 1993;2:141–6. 6. Perry R, Gonzales I, Finlay J, et al. Primary peripheral primitive neuroectodermal tumors of the spinal cord: report of two cases and review of the literature. J Neurooncol 2007;81:259–64. 7. Aydin MV, Sen O, Ozel S, et al. Primary primitive neuroectodermal tumor within the spinal epidural space: report of a case and review of the literature. Neurol Res 2004;26:774–7. 8. Deme S, Ang LC, Skaf G, et al. Primary intramedullary primitive neuroectodermal tumor of the spinal cord: case report and review of the literature. Neurosurgery 1997;41:1417–20. 9. Freyer DR, Hutchinson RJ, McKeever PE. Primary primitive neuroectodermal tumor of the spinal cord associated with neural tube defect. Pediatr Neurosci 1989;15:181–7. 10. Harimaya K, Oda Y, Matsuda S, et al. Primitive neuroectodermal tumor and extraskeletal Ewing sarcoma arising primarily around the spinal column: report of four cases and a review of the literature. Spine 2003;28:E408–12. 11. Jaksche H, Wockel W, Wernert N. Primary spinal medulloblastomas? Neurosurg Rev 1988;11:259–65. 12. Kepes JJ, Belton K, Roessmann U, et al. Primitive neuroectodermal tumors of the cauda equina in adults with no detectable primary intracranial neoplasm–three case studies. Clin Neuropathol 1985;4:1–11. 13. Kosnik EJ, Boesel CP, Bay J, et al. Primitive neuroectodermal tumors of the central nervous system in children. J Neurosurg 1978;48:741–6. 14. Kwon OK, Wang KC, Kim CJ, et al. Primary intramedullary spinal cord primitive neuroectodermal tumor with intracranial seeding in an infant. Childs Nerv Syst 1996;12:633–6. 15. Liu HM, Yang WC, Garcia RL, et al. Intraspinal primitive neuroectodermal tumor arising from the sacral spinal nerve root. J Comput Tomogr 1987;11:350–4. 16. Mawrin C, Synowitz HJ, Kirches E, et al. Primary primitive neuroectodermal tumor of the spinal cord: case report and review of the literature. Clin Neurol Neurosurg 2002;104:36–40. 17. McDermott VG, el-Jabbour JN, Sellar RJ, et al. Primitive neuroectodermal tumour of the cauda equina. Neuroradiology 1994;36:228–30. 18. Sevick RJ, Johns RD, Curry BJ. Primary spinal primitive neuroectodermal tumor with extraneural metastases. AJNR Am J Neuroradiol 1987;8:1151–2. 19. Virani MJ, Jain S. Primary intraspinal primitive neuroectodermal tumor (PNET): a rare occurrence. Neurol India 2002;50:75–80. 20. Akyuz M, Demiral AN, Gurer IE, et al. Primary primitive neuro-ectodermal tumor of cauda equina with intracranial seeding. Acta Neurochir (Wien) 2004;146:525–8. 21. Albrecht CF, Weiss E, Schulz-Schaeffer WJ, et al. Primary intraspinal primitive neuroectodermal tumor: report of two cases and review of the literature. J Neurooncol 2003;61:113–20. 22. Dorfmuller G, Wurtz FG, Umschaden HW, et al. Intraspinal primitive neuroectodermal tumour: report of two cases and review of the literature. Acta Neurochir (Wien) 1999;141:1169–75.
Case Reports / Journal of Clinical Neuroscience 17 (2010) 261–263 23. Isotalo PA, Agbi C, Davidson B, et al. Primary primitive neuroectodermal tumor of the cauda equina. Hum Pathol 2000;31:999–1001. 24. Kim YW, Jin BH, Kim TS, et al. Primary intraspinal primitive neuroectodermal tumor at conus medullaris. Yonsei Med J 2004;45:533–8.
261
25. Weber DC, Rutz HP, Lomax AJ, et al. First spinal axis segment irradiation with spot-scanning proton beam delivered in the treatment of a lumbar primitive neuroectodermal tumour. Clin Oncol (R Coll Radiol) 2004;16:326–31.
doi:10.1016/j.jocn.2009.05.020
An unusual primitive neuroectodermal tumor in the thoracic epidural space Sio-Iong Chang a,b, Ming-Cheng Tsai b,*, Ming-Dar Tsai b a b
Department of Neurosurgery, Cardinal Tien Hospital, Yung-ho Branch, Yonghe City, Taipei County, Taiwan Department of Neurosurgery, Shin Kong Wu-Ho-Su Memorial Hospital, No. 95 Wen-Chang Road, Shih Lin District, Taipei City 111, Taiwan
a r t i c l e
i n f o
Article history: Received 18 February 2009 Accepted 17 May 2009
Keywords: Primitive neuroectodermal tumor Spinal epidural tumor Dumbbell epidural tumor
a b s t r a c t Primitive neuroectodermal tumor (PNET) is a generic term used to describe a group of histologically indistinguishable neoplasms, including cerebellar medulloblastomas, which are located at various sites in the central nervous system. Primary epidural PNETs are rare and few patients have been reported. We report a 15-year-old girl who presented with gradual onset, over 1 month, of upper back pain and bilateral lower leg weakness. A thoracic spine MRI showed a dumbbell-shaped epidural mass at T2–4 with right paraspinal and posterior mediastinal extension. Surgical resection of the epidural tumor for decompression was performed. The pathologic examination revealed a PNET. Primary spinal PNETs typically have a poor prognosis and optimal therapy has not yet been defined. Surgical resection, with the combination of chemo-radiotherapy or radiotherapy, leads to better outcomes. However, primary epidural PNETs may be classified as a subtype of spinal PNETs because they are free from intrathecal invasion. For these patients, surgery alone and surgery combined with radiotherapy or chemo-radiotherapy remain controversial. Our patient received surgery alone and, 1 year later, has experienced no local recurrence within the epidural space but the mediastinal part of the tumor has enlarged. Crown Copyright Ó 2009 Published by Elsevier Ltd. All rights reserved.
1. Introduction Spinal primitive neuroectodermal tumors (PNETs) are rare. Thirty-one patients have been reported with such tumors,1–4 and most of the tumors were intramedullary; only 7 patients had tumors located epidurally. We present a 15-year-old female patient with a primary spinal epidural PNET arising at the T2–4 level. A review of the literature was performed to ascertain optimal therapy for epidural PNETs of the spine.
2. Case report A 15-year-old-girl was admitted to our hospital complaining of back pain starting 1 month prior. Progressive weakness of the lower extremities began 2 weeks before admission. On neurological examination, paraparesis (4/5) of the lower extremities, hypoesthesia below the T3 level and hyper-reflexia at both knee and ankle jerks were noted. There was no sphincter involvement. Her gait was ataxic and she required an aid for walking. An MRI of the thoracic spine revealed a dumbbell-shaped tumor from T2 to T4 with spinal cord compression and posterior mediastinal extension. Enhancement of the tumor by gadolinium injection revealed heterogeneity. We believed the patient had either a neuroblastoma or a schwannoma (Fig. 1). She underwent surgery to perform a laminectomy from T2 to T5. A well-encapsulated and hypervascular tumor was found in the epidural space. It was dark red and had no
* Corresponding author. Tel.: +886 2 28332211x2598. E-mail address: [email protected] (M.-C. Tsai).
dura mater or bone invasion. We removed this tumor to the right intervertebral foramen but left the mediastinal part. Hematoxylin and eosin staining of the tumor revealed small round cells with hyperchromatic nuclei and some mitotic figures (Supplementary Fig. 1A). Immunohistochemical studies showed positive staining for CD99 and a PNET was confirmed (Supplementary Fig. 1B). A post-operative MRI of the neuroaxis did not show any primary lesions elsewhere. The post-operative course was uneventful and the patient was able to walk unassisted 2 weeks later. We recommended radiotherapy for the mediastinal part of the tumor but the patient declined treatment due to family reasons. Nine months after the operation, a follow-up MRI showed no local recurrence of the tumor in the epidural space (Fig. 2). She remained asymptomatic 1 year after the operation, but complained of mild dyspnea on exertion. The mediastinal portion of the tumor had enlarged.
3. Discussion Spinal PNETs are rare, and only 32 patients with these tumors have been reported.1–4 Most of these tumors were intradural or intramedullary. Only eight patients had tumors located epidurally and five of these were located at the thoracic spine.1–8 A summary of these patients is shown in Table 1. Most of the reported spinal epidural PNETs occurred in children; however, they can also occur in adults.5,6 The mean age of patients was 13 years and tumors occurred predominantly in males. The duration of clinical presentation was short with most patients showing symptoms for less than 1 month. These tumors had no specific characteristics on clin-
signs. Although most patients with acromegaly have poor Mallampati grade due to soft tissue overgrowth and macroglossia, this does not necessarily signify a difficult intubation. This finding needs further corroboration by a large study to evaluate the role of the ULB test in patients with acromegaly. References 1. Bhansali A, Sharma BS, Sreenivasulu P, et al. Acromegaly with fibrous dysplasia: McCune-Albright Syndrome–clinical studies in 3 cases and brief review of literature. Endocr J 2003;50:793–9. 2. Dou W, Lin N, Ma W, et al. Transsphenoidal surgery in a patient with acromegaly and McCune-Albright syndrome: application of neuronavigation. J Neurosurg 2008;108:164–9. 3. Cormack RS, Lehane J. Difficult tracheal intubation in obstetrics. Anaesthesia 1984;39:1105–11. 4. Langer RA, Yook I, Capan LM. Anesthetic considerations in McCune-Albright syndrome: case report with literature review. Anesth Analg 1995;80:1236–9.
259
5. Christoforidis A, Maniadaki I, Stanhope R. McCune-Albright syndrome: growth hormone and prolactin hypersecretion. J Pediatr Endocrinol Metab 2006;19:623–5. 6. Tse JC, Rimm EB, Hussain A. Predicting difficult endotracheal intubation in surgical patients scheduled for general anesthesia: a prospective blind study. Anesth Analg 1995;81:254–8. 7. Khan ZH, Gharabaghian M, Nilli F, et al. Easy endotracheal intubation of a patient suffering from both Cushing’s and Nelson’s syndromes predicted by the upper lip bite test despite a Mallampati Class 4 airway. Anesth Analg 2007;105:786–7. 8. Khan ZH, Kashfi A, Ebrahimkhani E. A comparison of the upper lip bite test (a simple new technique) with modified Mallampati classification in predicting difficulty in endotracheal intubation: a prospective blinded study. Anesth Analg 2003;96:595–9. 9. Eberhart LH, Arndt C, Cierpka T, et al. The reliability and validity of the upper lip bite test compared with the Mallampati classification to predict difficult laryngoscopy: an external prospective evaluation. Anesth Analg 2005;101:284–9.
doi:10.1016/j.jocn.2009.05.020
Peripheral Primitive Neuroectodermal Tumour (pPNET) in the cervical spine H.S. Alexander a,*, C. Koleda c, M.K. Hunn b a b c
Capital and Coast District Health Board, Wellington Hospital Riddiford Street, Newtown, Wellington 6021, New Zealand Department of Neurosurgery, Wellington Hospital, Wellington, New Zealand Department of Anatomic Pathology, Capital and Coast District Health Board, Wellington, New Zealand
a r t i c l e
i n f o
Article history: Received 2 March 2009 Accepted 6 May 2009
a b s t r a c t Primary spinal primitive neuroectodermal tumours are rare. We present a 45-year-old man with a peripheral primitive neuroectodermal tumour arising in the cervical spine. We believe this to be the first report of this type of tumour in the cervical spine. Ó 2009 Elsevier Ltd. All rights reserved.
Keywords: Cervical spine Primitive neuroectodermal tumour
1. Introduction Primitive neuroectodermal tumour (PNET) was a term introduced to describe embryonal central nervous system (CNS) tumours that are morphologically indistinguishable from medulloblastoma but occur outside the cerebellum.1 Intracranial PNET is rare and is typically seen in children and adolescents.2 PNETs are classified as central or peripheral.3 Central PNET (cPNET) is located within the CNS outside the posterior fossa. Peripheral PNET (pPNET) is a soft tissue tumour outside the CNS that is closely related to Ewing’s tumour.4,5 The histological appearance of cPNET and pPNET are similar; however, they display differing cytogenetics and immunoreactivity.2,5 Spinal PNET tumours are very rare, often without the distinction being made between central and peripheral types.6 We present a patient with a spinal pPNET arising in the cervical spinal cord. 2. Case report A 45-year-old Maori man presented with 3 days of right hemiparesis. On questioning he reported 2 weeks of paraesthesia and * Corresponding author. Tel.: +64 4 385 5999; fax: +64 4 385 5456. E-mail address: [email protected] (H.S. Alexander).
dysesthesia in his right upper limb and 4 months of neck pain. On examination he had a flaccid right arm with 0/5 power and 2/ 5 power in the right leg with brisk lower limb reflexes bilaterally. MRI of the spine revealed an intradural extramedullary tumour from C3 to C5, lying anterolateral to the cord on the right causing severe cord compression (Fig. 1). The intradural lesion was contiguous with a soft tissue mass within the right C3/4 foramen. The tumour enhanced homogeneously with gadolinium. High dose steroids were started and a C3/5 laminectomy and a subtotal resection of the tumour was performed. Intraoperatively there was a small amount of firm grey fleshy extradural tumour enveloping the C4 nerve root. Intradurally there was again fleshy grey extramedullary tumour from C4 to C6. This was semi-encapsulated and densely adherent to the cord, nerve rootlets and the lateral aspect of the dural thecal sac. A small amount of tumour was left attached to the anterolateral aspect of the cord. The frozen section analysis reported a small blue cell tumour possibly consistent with lymphoma; therefore, aggressive resection was not attempted. Histology confirmed small round blue tumour cells with a small amount of cytoplasm (Supplementary Fig. 1). The tumour showed dense fibrous connective tissue present between large sheets of cells. Periodic acid Schiff (PAS)/diastase staining demonstrated cytoplasmic glycogen (Supplementary Fig. 1). Immunohistochemi-
260
Case Reports / Journal of Clinical Neuroscience 17 (2010) 259–261
reported cases suggests that maximal safe debulking followed by local radiotherapy and possibly craniospinal irradiation gives the best survival.20 Local recurrence was recorded in six of the 10 reported patients with spinal pPNET, with distant metastasis (two spinal, one intracranial) seen in three patients.6,20–22,25 Four patients remained alive and disease free at reporting with followup times of 4 to 23 months.6,22–24 Longest recorded survival was 72 months after three resections and chemo/radiotherapy.6 Primary spinal pPNET remains a rare and aggressive tumour without a standardised or effective treatment.
Appendix A. Supplementary data
Fig. 1. (a) Sagittal and (b) axial T1-weighted MRI with gadolinium contrast showing an intradural extramedullary tumour from C3 to C5, lying anterolateral to the cord on the right causing severe cord compression.
Supplementary data associated with this article can be found, in the online version, at doi:10.1016/j.jocn.2009.05.020.
References cally the tumour was CD99 and neuron-specific enolase positive (Supplementary Fig. 1) with faint S-100 positivity and was negative for synaptophysin, chromogranin, glial fibrillary acidic protein, cytokeratin (CK) AE1/3, CAM5.2 and lymphoid markers. Appearances were consistent with a PNET. Fluorescent in situ hybridisation analysis showed complete EWSR1 gene rearrangement confirming the diagnosis of pPNET. Post-operatively the patient’s deficits improved and he was referred for radiotherapy. He was readmitted 4 weeks later with rapidly progressing tetraparesis. Emergency radiotherapy was commenced and a total of 12 Gy were delivered to the cervical spine followed by entire neuroaxis irradiation to a dose of 36 Gy. A top-up dose of 6 Gy was delivered to the cervical spinal cord giving a total dose to the involved segment of 54 Gy in 30 fractions. The patient showed significant improvement following radiotherapy and he was independently mobile with a right arm monoplegia. One year post initial presentation he re-presented with a palpable right neck mass with associated arm and facial pain. MRI showed extensive recurrence in the paravertabral soft tissues with intraspinal extension. He was treated palliatively and was still alive 13 months post presentation.
3. Discussion Primary spinal PNET is a rare tumour with only 30 reported cases. In older studies the distinction between peripheral and central PNETs was not made.7–19 There are 9 reported cases of confirmed primary spinal pPNET.6,20–25 In this patient our impression was of a primarily extramedullary lesion arising from the C4 nerve root, with secondary attachment to the pia of the spinal cord. The extradural extension of the tumour supports an origin from the nerve root. This is another example of a primary spinal pPNET and is the first report of its occurrence in the cervical spine. Many of the cases available for review have incomplete clinical and histological data. Consistent features of spinal PNETs are a rapidly progressive clinical course with symptoms of local pain and neurological deficits related to the site of the tumour.6–25 The tumours are isodense on T1-weighted MRI and homogenously enhance with gadolinium.6,7,15,20–22,24,25 Intraoperatively the lesion is described as a red/grey fleshy tumour adherent to surrounding tissues.7,12 Spinal PNETs have both extra- and intradural components.7,8,12,15,20–22,24,25 Optimum treatment of primary spinal pPNET is unclear. Many reported cases have short follow-up times making evaluation of survival and effectiveness of treatment difficult. A review of
1. Hart MN, Earle KM. Primitive neuroectodermal tumors of the brain in children. Cancer 1973;32:890–7. 2. Rorke LB, Hart MN, McLendon RE. Supratentorial primitive neuroectodermal tumour (PNET). In: Kleihues P, Cavenee WK, editors. Pathology and genetics of tumours of the nervous system, WHO classification of tumours. Lyon: IARC Press; 2000. 3. Tsokos M. Peripheral primitive neuroectodermal tumors. Diagnosis, classification, and prognosis. Perspect Pediatr Pathol 1992;16:27–98. 4. Hadfield MG, Quezado MM, Williams RL, et al. Ewing’s family of tumors involving structures related to the central nervous system: a review. Pediatr Dev Pathol 2000;3:203–10. 5. Ladanyi M, Lewis R, Garin-Chesa P, et al. EWS rearrangement in Ewing’s sarcoma and peripheral neuroectodermal tumor. Molecular detection and correlation with cytogenetic analysis and MIC2 expression. Diagn Mol Pathol 1993;2:141–6. 6. Perry R, Gonzales I, Finlay J, et al. Primary peripheral primitive neuroectodermal tumors of the spinal cord: report of two cases and review of the literature. J Neurooncol 2007;81:259–64. 7. Aydin MV, Sen O, Ozel S, et al. Primary primitive neuroectodermal tumor within the spinal epidural space: report of a case and review of the literature. Neurol Res 2004;26:774–7. 8. Deme S, Ang LC, Skaf G, et al. Primary intramedullary primitive neuroectodermal tumor of the spinal cord: case report and review of the literature. Neurosurgery 1997;41:1417–20. 9. Freyer DR, Hutchinson RJ, McKeever PE. Primary primitive neuroectodermal tumor of the spinal cord associated with neural tube defect. Pediatr Neurosci 1989;15:181–7. 10. Harimaya K, Oda Y, Matsuda S, et al. Primitive neuroectodermal tumor and extraskeletal Ewing sarcoma arising primarily around the spinal column: report of four cases and a review of the literature. Spine 2003;28:E408–12. 11. Jaksche H, Wockel W, Wernert N. Primary spinal medulloblastomas? Neurosurg Rev 1988;11:259–65. 12. Kepes JJ, Belton K, Roessmann U, et al. Primitive neuroectodermal tumors of the cauda equina in adults with no detectable primary intracranial neoplasm–three case studies. Clin Neuropathol 1985;4:1–11. 13. Kosnik EJ, Boesel CP, Bay J, et al. Primitive neuroectodermal tumors of the central nervous system in children. J Neurosurg 1978;48:741–6. 14. Kwon OK, Wang KC, Kim CJ, et al. Primary intramedullary spinal cord primitive neuroectodermal tumor with intracranial seeding in an infant. Childs Nerv Syst 1996;12:633–6. 15. Liu HM, Yang WC, Garcia RL, et al. Intraspinal primitive neuroectodermal tumor arising from the sacral spinal nerve root. J Comput Tomogr 1987;11:350–4. 16. Mawrin C, Synowitz HJ, Kirches E, et al. Primary primitive neuroectodermal tumor of the spinal cord: case report and review of the literature. Clin Neurol Neurosurg 2002;104:36–40. 17. McDermott VG, el-Jabbour JN, Sellar RJ, et al. Primitive neuroectodermal tumour of the cauda equina. Neuroradiology 1994;36:228–30. 18. Sevick RJ, Johns RD, Curry BJ. Primary spinal primitive neuroectodermal tumor with extraneural metastases. AJNR Am J Neuroradiol 1987;8:1151–2. 19. Virani MJ, Jain S. Primary intraspinal primitive neuroectodermal tumor (PNET): a rare occurrence. Neurol India 2002;50:75–80. 20. Akyuz M, Demiral AN, Gurer IE, et al. Primary primitive neuro-ectodermal tumor of cauda equina with intracranial seeding. Acta Neurochir (Wien) 2004;146:525–8. 21. Albrecht CF, Weiss E, Schulz-Schaeffer WJ, et al. Primary intraspinal primitive neuroectodermal tumor: report of two cases and review of the literature. J Neurooncol 2003;61:113–20. 22. Dorfmuller G, Wurtz FG, Umschaden HW, et al. Intraspinal primitive neuroectodermal tumour: report of two cases and review of the literature. Acta Neurochir (Wien) 1999;141:1169–75.
Case Reports / Journal of Clinical Neuroscience 17 (2010) 261–263 23. Isotalo PA, Agbi C, Davidson B, et al. Primary primitive neuroectodermal tumor of the cauda equina. Hum Pathol 2000;31:999–1001. 24. Kim YW, Jin BH, Kim TS, et al. Primary intraspinal primitive neuroectodermal tumor at conus medullaris. Yonsei Med J 2004;45:533–8.
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25. Weber DC, Rutz HP, Lomax AJ, et al. First spinal axis segment irradiation with spot-scanning proton beam delivered in the treatment of a lumbar primitive neuroectodermal tumour. Clin Oncol (R Coll Radiol) 2004;16:326–31.
doi:10.1016/j.jocn.2009.05.020
An unusual primitive neuroectodermal tumor in the thoracic epidural space Sio-Iong Chang a,b, Ming-Cheng Tsai b,*, Ming-Dar Tsai b a b
Department of Neurosurgery, Cardinal Tien Hospital, Yung-ho Branch, Yonghe City, Taipei County, Taiwan Department of Neurosurgery, Shin Kong Wu-Ho-Su Memorial Hospital, No. 95 Wen-Chang Road, Shih Lin District, Taipei City 111, Taiwan
a r t i c l e
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Article history: Received 18 February 2009 Accepted 17 May 2009
Keywords: Primitive neuroectodermal tumor Spinal epidural tumor Dumbbell epidural tumor
a b s t r a c t Primitive neuroectodermal tumor (PNET) is a generic term used to describe a group of histologically indistinguishable neoplasms, including cerebellar medulloblastomas, which are located at various sites in the central nervous system. Primary epidural PNETs are rare and few patients have been reported. We report a 15-year-old girl who presented with gradual onset, over 1 month, of upper back pain and bilateral lower leg weakness. A thoracic spine MRI showed a dumbbell-shaped epidural mass at T2–4 with right paraspinal and posterior mediastinal extension. Surgical resection of the epidural tumor for decompression was performed. The pathologic examination revealed a PNET. Primary spinal PNETs typically have a poor prognosis and optimal therapy has not yet been defined. Surgical resection, with the combination of chemo-radiotherapy or radiotherapy, leads to better outcomes. However, primary epidural PNETs may be classified as a subtype of spinal PNETs because they are free from intrathecal invasion. For these patients, surgery alone and surgery combined with radiotherapy or chemo-radiotherapy remain controversial. Our patient received surgery alone and, 1 year later, has experienced no local recurrence within the epidural space but the mediastinal part of the tumor has enlarged. Crown Copyright Ó 2009 Published by Elsevier Ltd. All rights reserved.
1. Introduction Spinal primitive neuroectodermal tumors (PNETs) are rare. Thirty-one patients have been reported with such tumors,1–4 and most of the tumors were intramedullary; only 7 patients had tumors located epidurally. We present a 15-year-old female patient with a primary spinal epidural PNET arising at the T2–4 level. A review of the literature was performed to ascertain optimal therapy for epidural PNETs of the spine.
2. Case report A 15-year-old-girl was admitted to our hospital complaining of back pain starting 1 month prior. Progressive weakness of the lower extremities began 2 weeks before admission. On neurological examination, paraparesis (4/5) of the lower extremities, hypoesthesia below the T3 level and hyper-reflexia at both knee and ankle jerks were noted. There was no sphincter involvement. Her gait was ataxic and she required an aid for walking. An MRI of the thoracic spine revealed a dumbbell-shaped tumor from T2 to T4 with spinal cord compression and posterior mediastinal extension. Enhancement of the tumor by gadolinium injection revealed heterogeneity. We believed the patient had either a neuroblastoma or a schwannoma (Fig. 1). She underwent surgery to perform a laminectomy from T2 to T5. A well-encapsulated and hypervascular tumor was found in the epidural space. It was dark red and had no
* Corresponding author. Tel.: +886 2 28332211x2598. E-mail address: [email protected] (M.-C. Tsai).
dura mater or bone invasion. We removed this tumor to the right intervertebral foramen but left the mediastinal part. Hematoxylin and eosin staining of the tumor revealed small round cells with hyperchromatic nuclei and some mitotic figures (Supplementary Fig. 1A). Immunohistochemical studies showed positive staining for CD99 and a PNET was confirmed (Supplementary Fig. 1B). A post-operative MRI of the neuroaxis did not show any primary lesions elsewhere. The post-operative course was uneventful and the patient was able to walk unassisted 2 weeks later. We recommended radiotherapy for the mediastinal part of the tumor but the patient declined treatment due to family reasons. Nine months after the operation, a follow-up MRI showed no local recurrence of the tumor in the epidural space (Fig. 2). She remained asymptomatic 1 year after the operation, but complained of mild dyspnea on exertion. The mediastinal portion of the tumor had enlarged.
3. Discussion Spinal PNETs are rare, and only 32 patients with these tumors have been reported.1–4 Most of these tumors were intradural or intramedullary. Only eight patients had tumors located epidurally and five of these were located at the thoracic spine.1–8 A summary of these patients is shown in Table 1. Most of the reported spinal epidural PNETs occurred in children; however, they can also occur in adults.5,6 The mean age of patients was 13 years and tumors occurred predominantly in males. The duration of clinical presentation was short with most patients showing symptoms for less than 1 month. These tumors had no specific characteristics on clin-