1/99. Ukrain treatment in a patient with stage IV neuroblastoma. A case report.A 22-month-old boy with stage IV neuroblastoma underwent laparotomy with tumor removal and nephrectomy, followed by treatment with Ukrain. Two months later, a remaining abdominal tumor, a retroperitoneal tumor (approximately 2 x 1 cm), and lung, brain, pelvis, kidney, and distal femur metastases were found. Growth of the neuroblastoma around the spinal cord and growth into the spinal canal was also found. Ukrain was administered in 3-week therapy series with 3-week pauses between each series. Some tumors disappeared, others were smaller, and growth stopped in the remaining tumors. Various metastases were no longer detectable.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/99. 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.- - - - - - - - - - ranking = 22.549333528123keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/99. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.Turcot's syndrome is a genetic disease characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. We report a Turcot family with no parental consanguinity, in which two affected sisters, with no history of tumors in their parents, died of a brain tumor and of a colorectal tumor, respectively, at a very early age. The proband had a severe microsatellite instability (MIN) phenotype in both tumor and normal colon mucosa, and mutations in the TGFbeta-RII and APC genes in the colorectal tumor. We identified two germline mutations within the PMS2 gene: a G deletion (1221delG) in exon 11 and a four-base-pair deletion (2361delCTTC) in exon 14, both of which were inherited from the patient's unaffected parents. These results represent the first evidence that two germline frameshift mutations in PMS2, an MMR gene which is only rarely involved in HNPCC, are not pathogenic per se, but become so when occurring together in a compound heterozygote. The compound heterozygosity for two mutations in the PMS2 gene has implications for the role of protein PMS2 in the mismatch repair mechanism, as well as for the presymptomatic molecular diagnosis of at-risk family members. Furthermore, our data support and enlarge the notion that high dna instability in normal tissues might trigger the development of cancer in this syndrome.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
4/99. plasma brain natriuretic peptides and renal hypertension.Three children with renal hypertension are described. Two had histories of neuroblastoma treated by surgical resection and chemotherapy. They both presented later with unilateral atrophic kidney and marked hypertension. Only the child with severe cardiac failure demonstrated high plasma brain natriuretic peptide (BNP) concentrations. The remaining patient had a history of chronic nephritis treated with continuous ambulatory peritoneal dialysis. She also had chronic hypertension and severe cardiac failure. This child demonstrated high plasma BNP levels. The endogenous secretion of BNP is not triggered by hypertension alone, even though exogenous BNP has the pharmacological effect of reducing renin activity.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
5/99. 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.- - - - - - - - - - ranking = 3.1543040012986keywords = nervous system (Clic here for more details about this article) |
6/99. 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.- - - - - - - - - - ranking = 18.240725525526keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
7/99. Hematogenous brain metastasis in children.Hematogenous brain metastases are uncommon in childhood. Three patients and a literature review that includes centers reporting up to 36 years of experience are presented in this study. The total of 2,040 patients includes our three examples of one neuroblastoma, one hepatoblastoma, and one adrenal carcinoma. Cerebral hematogenous metastases were reported in 4.4% of 429 patients with neuroblastoma, 1.9% of 574 rhabdomyosarcoma patients, 6.5% of 386 patients with osteosarcoma, 3.3% of 487 Ewing sarcoma patients, 3.6% of 44 melanoma patients, 13.5% of 37 patients with germ cell tumors, and 1.3% of the 78 patients with wilms tumor. Five miscellaneous patients included three with a hepatoblastoma and one each with adrenal carcinoma and nephroma. All of the large series reports have been published in oncology journals.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
8/99. 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.- - - - - - - - - - ranking = 9.9321175229283keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/99. 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.- - - - - - - - - - ranking = 9.9321175229283keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/99. Metaiodobenzylguanidine total-body scintigraphy required for revealing occult neuroblastoma in opsoclonus-myoclonus syndrome.A girl aged 13 months presented with clinical features of subacute progressive ataxia leading to abasia, astasia, loss of unsupported sitting and apraxia. In addition, an opsoclonus, myoclonia and introvert behaviour developed. MRI of the brain, EEG, extensive tests of blood, urine and CSF showed no abnormalities. Based on clinical symptoms only, the diagnosis of opsoclonus-myoclonus syndrome (OMS) could be made. Under the suspicion of a neuroblastoma, further investigations were performed: a lateral and antero-posterior X-ray examination of the chest showed no tumour; neither did ultrasound of the abdomen. Concentrations of catecholamines and their metabolites in 24 h urine were normal and none of five tested anti-neuronal antibodies were found. However, a total-body scintigraphy with [I(123)] metaiodobenzylguanidine (MIBG) revealed a paravertebral hot spot on the left side compatible with a neural crest tumour. A MRI scan of the abdomen confirmed the supraphrenic lesion. [I(123)]MIBG uptake was sufficient for [I(131)]MIBG therapy. The response of the tumour to this therapy was favourable. The neurological symptoms of the patient slightly improved under steroid treatment. CONCLUSION: opsoclonus-myoclonus syndrome is a serious disease in infants, sometimes associated with occult neuroblastoma for which a full oncological work-up, including metaiodobenzylguanidine total-body scintigraphy is required.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
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