Cases reported "Spinal Cord Neoplasms"

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21/206. Imprint cytologic features of intracytoplasmic lumina in ependymoma. A report of two cases.

    BACKGROUND: Intracytoplasmic lumina have been recently recognized as a characteristic histologic feature of ependymoma. However, the cytologic diagnostic usefulness has not been discussed. We encountered two imprint cytology cases of spinal cord ependymomas in which there were intracytoplasmic lumina in the tumor cells. CASES: Two women had spinal cord tumors on magnetic resonance imaging. Imprint cytology study was carried out on the resected tumors. The cytologic specimen of the first case, aged 52, showed tumor clusters consisting of elongated epithelioid cells, a few of which also had intracytoplasmic lumina. Histologically, tumor cells formed ependymal rosettes and pseudoperivascular rosettes. There were a few tumor cells with intracytoplasmic lumina. The cytologic specimen of the second patient, aged 37, had scattered and isolated tumor cells with intracytoplasmic lumina resembling signet-ring cells and paired tumor cells forming small, glandlike structures. Histologically, the tumor was composed mainly of signet-ring-like cells containing intracytoplasmic lumina. CONCLUSION: Intracytoplasmic lumina were observed in the imprint cytologic specimens of spinal cord ependymoma. The diagnosis of ependymomas can be made cytologically when intracytoplasmic lumina are found since no other primary neuroepithelial tumors of the central nervous system possess such a characteristic feature.
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22/206. Primary polymorphous hemangioendothelioma of the spinal cord. Case report.

    A case of polymorphous hemangioendothelioma of the spinal cord is described. This 55-year-old woman presented with an 18-month history of lower-extremity sensorimotor deficit. A magnetic resonance image revealed an enhancing, intradural, extramedullary nodule at the T 1-2 level. On gross inspection, the lesion measured 3.5 cm and was firmly attached to spinal cord parenchyma and adjacent nerve roots. It was completely removed. Fourteen months after surgery the patient's neurological deficit had resolved. Polymorphous hemangioendothelioma is a rare vascular tumor of borderline malignancy. Most occur in lymph nodes. None has been reported to occur in the central and peripheral nervous system. Based on current experience, resection and close follow up seems the best therapeutic approach.
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23/206. Decreasing incidence of sudden death due to undiagnosed primary central nervous system tumors.

    CONTEXT: Although most fatal brain tumors are diagnosed well before a patient's death, occasionally medical examiners and coroners encounter cases in which the presence of a primary tumor of the central nervous system (CNS) was not suspected prior to death. Analysis of such cases can shed light on specific pitfalls hindering the diagnosis of brain tumors. In addition, by analyzing the incidence of these cases in a large autopsy series, one can draw conclusions about the evolving effectiveness of medical diagnosis. OBJECTIVE: To determine the incidence of deaths due to undiagnosed primary CNS tumors in the era of advanced neuroimaging techniques. DESIGN: Records from forensic autopsies performed during a 20-year period (1980-1999) at the Office of the Chief Medical Examiner of the State of maryland were reviewed to identify cases in which death was caused by primary CNS tumors undiagnosed prior to the patient's death. RESULTS: We present 11 cases of undiagnosed primary CNS tumors resulting in sudden death that were identified among 54 873 forensic autopsies. Sudden deaths due to undiagnosed CNS neoplasms account for a significantly lower percentage of cases in our study (0.02%) than in similar series reported prior to 1980 (> or =0.16%). CONCLUSIONS: We hypothesize that improvements in imaging techniques, notably the introduction of computed tomography and magnetic resonance imaging, have resulted in increased early detection of CNS neoplasms. However, vague or short-term symptoms and limited health care access can dissuade patients from seeking medical attention and result in failure to diagnose these tumors correctly.
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24/206. Neurofibromatosis type 2 diagnosed in the absence of vestibular schwannomas. A case report and guidelines for a screening protocol for children at risk.

    A 5-year-old girl presented with multiple tumours of the central nervous system. As on the first MRI scan bilateral vestibular schwannomas were not detected due to their small size, she initially did not meet the criteria for neurofibromatosis type 2 (NF2), although her clinical symptoms were highly suggestive for the diagnosis. Using molecular studies, a mutation in the NF2 gene was found confirming the clinical suspicion at an early age and indicating the value of molecular analysis. Follow-up MRI 3 years later demonstrated bilateral vestibular schwannomas more clearly, since they had increased in size. CONCLUSION: In children, magnetic resonance imaging can be inconclusive for the diagnosis of neurofibromatosis type 2, since very small vestibular schwannomas may be missed. In these cases molecular studies may provide additional evidence for the diagnosis. We propose guidelines for a screening protocol for children at risk for having neurofibromatosis type 2.
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25/206. Pediatric intramedullary spinal cavernous malformations.

    STUDY DESIGN: A retrospective analysis of a large single institution pediatric intramedullary tumor database. The database was searched for all pediatric intramedullary cavernous malformations. OBJECTIVES: To review the authors' experience with three pediatric intramedullary cavernous malformations, review the previous literature, and discuss the surgical management for these rare lesions. SUMMARY OF BACKGROUND DATA: Cavernous malformations can occur throughout the central nervous system; however, the intramedullary spinal cord is a rare location. More recent estimates indicate that cavernous malformations constitute 5% of all vascular malformations. There is no series that reports the management of pediatric intramedullary cavernous malformations. methods: There were 181 pediatric intramedullary lesions in the tumor database. A review revealed three children with a mean age of 13.3 years (range, 8-19 years) with intramedullary cavernous malformations. All these children presented with an acute motor deficit that prompted radiographic imaging and diagnosis. All the children underwent laminectomy and gross total removal of the lesion. All the malformations abutted the dorsal pial surface and created a blue discoloration, which was evident after opening the dura. RESULTS: Approximately 10% of all intramedullary cavernous malformations present in the pediatric population. Pediatric lesions, unlike those in adults, have an acute presentation, and the lesions are typically found in the cervical region. The surgical removal of these malformations results in a good functional outcome. The entire neuraxis should be screened because there is a high incidence of multiple lesions. CONCLUSIONS: The surgical removal of these malformations results in a good functional outcome. The entire neuraxis should be screened because there is a high incidence of multiple lesions.
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26/206. Intradural hemangiopericytoma of the lumbar spine: case report.

    OBJECTIVE AND IMPORTANCE: hemangiopericytoma is a rare tumor of the central nervous system, most often found supratentorially. Thirty-nine cases within the spinal column, of which five were intradural, have been reported. To date, no magnetic resonance imaging descriptions of intradural hemangiopericytomas have been published. This article is the first report of an intradural hemangiopericytoma of the lumbar spine and the first magnetic resonance imaging description of such a lesion. CLINICAL PRESENTATION: A 31-year-old man presented with progressive bilateral leg paresthesia and increased lower extremity cramping and fatigue during a period of several months. This progressed to urinary urgency, frequency, and sexual dysfunction. A neurological examination revealed no motor or sensory deficits. gadolinium-enhanced magnetic resonance imaging of the lumbar spine revealed a centrally located intradural mass posterior to the L4 vertebral body. TECHNIQUE: The patient underwent a laminectomy of L4 and partial laminectomy of L3 with complete en bloc resection of the tumor. A discrete, intradural, red-appearing lesion was found and resected en bloc. Pathological findings were consistent with hemangiopericytoma. CONCLUSION: Intradural hemangiopericytomas, although rare, cannot be differentiated from other, more benign tumors. Spinal hemangiopericytomas ideally should be resected en bloc to reduce operative blood loss and potentially increase disease-free survival time. Despite total surgical resection of these benign-seeming lesions, the high recurrence rate mandates close follow-up and consideration of adjuvant therapy.
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27/206. central nervous system metastasis from nasopharyngeal carcinoma: a report of two patients and a review of the literature.

    BACKGROUND: central nervous system (CNS) metastasis from nasopharyngeal carcinoma (NPC) is an extremely rare occurrence, although direct intracranial invasion is not infrequent in patients with NPC at a locally advanced stage. Only five other patients have been reported in detail in the English literature. methods: The clinical records of two such patients with NPC who were diagnosed with metastasis to the spinal cord (intradural) and to the occipital lobe, respectively, were reviewed. The literature was searched for a review of similar incidents. RESULTS: Both patients had locally advanced disease at the time of presentation and were treated with neoadjuvant chemotherapy and radical radiotherapy. The CNS metastases in both patients were accompanied by disease recurrences in multiple sites after a prolonged period of clinical remission. Spread through cerebral spinal fluid was postulated for the patient with spinal cord metastasis, and hematogenous spread was postulated for the patient with brain metastasis. Aggressive surgical resection with or without postoperative radiotherapy conferred reasonable survival and symptom control. The patient with brain metastasis died 6 months later of lung metastasis, whereas the other patient is still alive 40 months from the diagnosis of spinal metastasis. CONCLUSIONS: Good symptom control and disease control can be achieved for patients with CNS metastasis after surgery with or without radiotherapy. After aggressive therapy, the ultimate survival depends on control of extracranial disease.
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28/206. Clinical and molecular analysis of disseminated hemangioblastomatosis of the central nervous system in patients without von hippel-lindau disease. Report of four cases.

    Hemangioblastomas of the central nervous system (CNS) may occur sporadically or in association with von Hippel-Lindau (VHL) syndrome. The authors present four patients with no family history or clinical evidence of VHL syndrome in whom extensive, progressive, en plaque coating of the brainstem and spinal cord with hemangioblastomas developed 1 to 8 years after complete resection of a solitary cerebellar hemangioblastoma. Analysis included detailed physical, biochemical, radiological, and pathological examinations in all four patients, combined with family pedigree analysis. In addition, a detailed investigation of the VHL gene was undertaken. Allelic loss, comparative genomic hybridization (CGH), single-stranded conformational polymorphism screening, CpG island methylation status, and x chromosome inactivation clonality analyses were performed. Although there was no evidence of germline alterations in the VHL gene on clinical and radiological examination or in the family history (all four patients) or analysis of peripheral blood (three patients), somatic deletion of one copy of the VHL gene occurred in these tumors. These findings indicate that the multiple, separate deposits of tumors were likely derived from a single clone. Results of CGH indicate that one or several additional genes are probably involved in the malignant behavior of the hemangioblastomas in these patients. Furthermore, the malignant biological and clinical behavior of these tumors, in which multiple sites of subarachnoid dissemination developed 1 to 8 years after initial complete resection, followed by progressive tumor growth and death of the patients, occurred despite a histological appearance typical of benign hemangioblastomas. Malignant hemangioblastomatosis developed 1 to 8 years after resection of an isolated cerebellar hemangioblastoma. Alterations of the VHL gene may be permissive in this setting, but other genes are likely to be the source of the novel biological and clinical presentation of the disseminated hemangioblastomas in these patients. This appears to represent a novel condition in which the product of one or more mutations in several genes permits malignant tumor behavior despite retention of a benign histological picture, a circumstance previously not recognized in CNS tumors.
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29/206. Benign isolated fibrohistiocytic tumor arising from the central nervous system. Considerations about two cases.

    Benign fibrous histiocytomas (BFHs) are tumors with fibroblastic and histiocytic components without histological anaplasia. Intracerebral lesions are exceptional and to our knowledge a spinal location was not yet described. We describe 2 cases of BFHs of the neural axis: the first, a 22-month-old boy with Down's syndrome, presented with a paraparesis and the magnetic resonance (MR) of the spine disclosed an intradural extramedullary, thoracic mass, totally resected; the second, a 13-year-old boy with left partial motor seizures, in whom the MR of the brain showed an intracerebral, right frontal tumor, also surgically removed. Both patients are free of recurrence, 6 years and 15 months after surgery, respectively. Histological examination and immunoreactivity for vimentin and histiocytic markers favored the diagnosis of BFH. It is likely that these tumors may originate from spinal dura mater mesenchymal stem cells and from the intracerebral perivascular pial sheath or the brain vessel walls themselves, respectively. Other benign, isolated, intracranial fibrohistiocytic neoplasms, namely the juvenile xanthogranuloma, can harbor a clinical, morphological and immunohistochemical profile overlapping the one of the BFH. Intracranial germ cell tumors may be associated with Down's syndrome, although harboring an unusual, non-pineal and non-chiasmatic location. One can speculate that a similar, still unknown genetic mechanism responsible for this association, could also induce the growth of other type of tumors in patients with this syndrome. BFHs should be added to the differential diagnosis of intracerebral or spinal dural attached tumors. Furthermore, we propose to name these intracranial tumors "benign isolated fibrohistiocytic tumors of the CNS".
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30/206. Intramedullary ancient schwannoma of the cervical spinal cord: case report and review of literature.

    We report a rare case of intramedullary ancient schwannoma of cervical spinal cord in a 68 year old patient. About 49 cases of intramedullary schwannomas and neurofibromas have been reported in the literature but to our knowledge there is no report of the 'ancient' variety of intramedullary schwannoma. The cell of origin of these tumours is the schwann cell, which normally does not exist in the parenchyma of the central nervous system. Many theories have been advanced to explain this paradox. According to one theory, these tumours arise from the perivascular nerve plexus of the pial vessels. This plexus was found mostly to exist along the branches of the anterior spinal artery. In our case, the tumour was supplied by two branches of the anterior spinal artery, which may add further support to the above theory.
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