Cases reported "Neuroblastoma"

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1/54. central nervous system relapse following bone marrow transplantation in stage IV neuroblastoma.

    neuroblastoma is the most common extracranial solid tumor in pediatrics. The disease-free survival rate for patients with stage IV neuroblastoma has improved over the past 10 years secondary to more aggressive induction chemotherapy regimens combined with autologous bone marrow transplantation. The usual sites of recurrence include the site of primary tumor, residual gross disease, bone, and bone narrow. The central nervous system, a rare site of relapse, is being involved with increasing frequency. The authors report two cases of patients with treated stage IV neuroblastoma who had relapses isolated to the CNS.
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2/54. The homeobox gene MEIS1 is amplified in IMR-32 and highly expressed in other neuroblastoma cell lines.

    neuroblastoma is a childhood tumour of the sympathetic nervous system that demonstrates striking clinical heterogeneity. In order to determine which genes are abnormally expressed in neuroblastoma, we screened regions of amplification from the short arm of chromosome 2 in the neuroblastoma cell line IMR-32 and found that the homeobox gene, myeloid ecotropic integration site 1 (MEIS1), is highly amplified. MEIS1 normally maps to chromosome band 2p14. High expression of MEIS1 without amplification was also found in other neuroblastoma cell lines, with and without MYCN amplification, and in medulloblastoma and crythroleukaemia cell lines. MEIS1 is highly expressed in cerebellum and ubiquitously expressed in normal immunohaematopoietic tissues and is thought to be important in cell proliferation and differentiation. While several lines of evidence point towards a role for homeobox genes in the development of other malignancies, this is the first report showing the amplification of a homeobox gene in neuroblastoma.
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3/54. brain specific human genes, NELL1 and NELL2, are predominantly expressed in neuroblastoma and other embryonal neuroepithelial tumors.

    NELL1 and NELL2 encode cysteine-rich amino acid sequences including six epidermal growth factor-like motifs, which contain signal peptides at the N-terminals. The deduced amino acid sequences of both genes are 55% identical and their cysteine stretch structures are conserved. NELL1 is expressed in the brain and kidney, whereas NELL2 is expressed specifically in the brain. The cell lineage expressing NELLs in the nervous system was investigated in established cell lines and central nervous system tumor tissues obtained from patients by Northern blot and reverse transcriptase-polymerase chain reaction analyses. NELL1 and NELL2 were predominantly expressed in neuroblastoma cell lines and little expressed in glioblastoma cell lines. NELL1 and NELL2 were also expressed in central neurocytoma, medulloblastoma, and some astrocytic tumors. Immunohistochemical analysis revealed that NELL2 protein was localized in the cytoplasm of neurons. These results suggest that NELL2 is predominantly expressed in the neuronal cell lineage in the human nervous system. NELL1 is expressed mainly in tumors in the neuronal cell lineage.
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4/54. A case of primary cerebral neuroblastoma in adolescence.

    Primary cerebral neuroblastoma is one of a group of highly malignant undifferentiated primitive neuroectodermal tumours arising from germinal matrix cells of the embryonic neural tube. They occur primarily in young children and are extremely rare in adults. They may be multicentric and have often spread throughout the central nervous system at the time of diagnosis. A case of a 16-year-old man is described, and the recent literature is reviewed.
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5/54. Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau gene.

    Pheochromocytomas are frequently associated with inherited cancer syndromes such as von hippel-lindau disease (VHL). Retinal angioma and hemangioblastomas of the central nervous system are hallmarks of VHL, but its clinical variety is remarkably broad. Pheochromocytomas as the sole or first manifestation of VHL are rare but have been observed. In this case report, the authors describe an unusual case of initial collapse, seizures, and hypertensive crisis in a child who later was found to have multiple extraadrenal pheochromocytomas. Molecular diagnostics revealed a novel point mutation in the VHL gene (VHL nt. 406 T-->G). Only 7 months after the first lesions had been removed, a new paraganglioma developed in the contralateral periadrenal region. When encountering pheochromocytomas in children, the clinician should be aware that an associated tumor syndrome might be present, and appropriate molecular screening should be initiated. Molecular genetics aid in the clinical decision-making and clinical management of individual patients with pheochromocytoma.
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keywords = nervous system
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6/54. Cerebral ganglioglioma with long history and unusual prominence of the mesenchymal elements. Case report.

    A case of cerebral ganglioglioma, a relatively rare and controversial tumor of the central nervous system, is reported. The histological pattern of the tumor consisted of differentiated neuronal cells and glial elements displaying a various extent of cytologic abnormalities. Beside these two typical components for ganglioglioma, an abundance of collagen fibrils and numerous blood vessels were encountered. The long clinical course manifested by temporal epilepsy preceding clinical diagnosis of brain tumor and peculiar histological appearance seem to be of considerable interest.
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7/54. Metastatic neuroblastoma presenting as a mandibular mass.

    neuroblastoma is the third most common type of cancer seen in children, after leukemia and tumours of the central nervous system. Although bony metastasis to the skull and the orbits has been well described, metastasis to the mandible is exceptional; 32 cases have been reported. Two more are presented here, along with a short review of the topic emphasizing the radiographic features and the differential diagnosis.
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8/54. Congenital horner syndrome associated with non-cervical neuroblastoma.

    horner syndrome may be caused by a neuroblastoma involving the cervical sympathetic nervous system. A two-year-old girl presented with horner syndrome and a discrete, distant neuroblastoma, suggesting that these two conditions represent a more widespread dysgenesis of the sympathetic nervous system.
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keywords = nervous system
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9/54. 123I-MIBG uptake in the neck and shoulders of a neuroblastoma patient: damage to sympathetic innervation blocks uptake in brown adipose tissue.

    Uptake of (123)I-MIBG in the neck and shoulders has recently been shown to be caused by uptake in brown adipose tissue. Unilateral absence of (123)I-MIBG uptake in brown adipose tissue ipsilateral to the clinical findings of a post-surgical Horner's syndrome suggests that, in humans, as in the animal model, uptake in brown adipose tissue is mediated by the sympathetic nervous system. This case further elucidates the mechanism of radiopharmaceutical uptake in brown adipose tissue and also suggests possible models for future studies of the physiology and pharmacology of brown adipose tissue.
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keywords = nervous system
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10/54. Primary cerebral neuroblastoma: a case treated with adjuvant chemotherapy and radiotherapy.

    neuroblastoma is the most common extracranial solid tumor of childhood. A wide variety of tumor locations and clinical presentations have been described. However, neuroblastoma is rarely located in the central nervous system, except in the case of esthesioneuroblastoma. We report a child with primary central nervous system (CNS) neuroblastoma who admitted to the hospital in coma. The tumor could be partially removed in our patient. After surgery, we treated the patient successfully with combined radiotherapy and eight courses of cisplatin-based chemotherapy. Our patient was followed-up for 34 months without any evidence of relapse.
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ranking = 0.4
keywords = nervous system
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