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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three cases of congenital brain tumours are reported, which presented with signs of increased intracranial pressure soon after birth, giving rise to the suspicion of a cerebral haemorrhage or of hydrocephalus. Correct diagnosis of tumour was established by computerised tomography, which additionally demonstrated a concomitant haematoma in each case. Two of the newborns had a primarily fatal course, with no specific treatment of the tumours being feasible. The remaining child underwent two operations, experiencing an unhindered neurologic and mental development thereafter. The histologic diagnoses were spongioblastoma and medulloblastoma in the first two cases, and ganglioneuroblastoma in the last. A conspicuous clinicopathologic feature of this neuroblastoma was the marked change in its growth pattern, revealing a higher degree of histologic differentiation and less malignant biological behaviour when tumour regrowth occurred. The diagnostic, therapeutic, and prognostic implications for this special clinicopathologic condition are discussed, with a review of the relevant literature.
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PMID:Congenital brain tumours: diagnostic and therapeutic approach. With a report of 3 cases. 256 Mar 5

A case of third ventricular primary cerebral neuroblastoma with secondary hydrocephalus is reported. Light microscopy showed a cell pattern that resembled either ependymoma or oligodendroglioma. The tumor was confirmed to be neuroblastoma by electron microscopy and immunohistochemistry. Immunoperoxidase staining was positive for neuron-specific enolase and negative for glial fibrillary acidic protein.
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PMID:Third ventricular primary cerebral neuroblastoma. Electron-microscopic and immunohistochemical study. 341 72

Lesions from the SC region of children examined histologically at the RAHC were: 1. Malformations almost always associated with spina bifida aperta or occulta: 183 myelomeningocele (MM), 32 meningocele (M), 35 lipoMM and lipoma, 19 dermoid cyst, six occult meningocele, two Pacinian hamartoma, one short filum, four hindgut cysts or sinuses, two tailgut cysts, and two epithelial heterotopia. 2. Neoplasms, usually without spina bifida: 56 teratomas (11 malignant), five ependymomas (two purely subcutaneous), and 14 miscellaneous primary malignancies, (most neuroblastoma and rhabdomyosarcoma). Distinction between MM with glial tissue and M without glial tissue is important as M had a much better prognosis, less than a third developing hydrocephalus, and 77% walking unaided. Of those with glial tissue, the eight without Arnold-Chiari malformation were myelocystocele associated with cloacal exstrophy (six), caudal regression syndrome (one), and microcephaly (one). Postsacral glial tissue without paraplegia may occur with a subcutaneous vestige of filum terminale, or with herniation of the nonfunctioning half of a diplomyelia. Of postsacral "lipomas" and dermoids, 70% had an intraspinal connection through an occult spina bifida. This posterior vertebral defect is easily overlooked as the arches normally may not ossify until after 6 years. Therefore, the pathologist receiving a postsacral specimen may wish to alert the clinician to the high incidence of late effects from an occult intraspinal component or tethering of the spinal cord. Transsacral hindgut herniations and cysts probably result from ectoendodermal adhesions. Presacral multicystic malformations with mixed squamous and mucus cell lining are probably tailgut remnants or anorectal duplications, and may be mistaken for dermoid or teratoma. In SC teratoma in infants, contrary to some reports on ovarian teratoma in adults, immature tissues do not indicate a worse prognosis. Malignancy is virtually confined to teratomas including a carcinomatous or "yolk sac" component. It is more common in predominantly presacral examples and rare before the age of 4 months. SC ependymoma differs from ependymoma elsewhere in that it may be primary outside the craniospinal cavity (presacral or postsacral), may have a myxopapillary pattern special to the region, and although low-grade and slow growing, is more likely to metastasize beyond the central nervous system. Postsacral examples arise from vestiges of the filum terminale which are normal in the subcutis there. Combinations of all these lesions occur with vertebral defects and with each other.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Sacrococcygeal developmental abnormalities and tumors in children. 636 33

Secondary intracranial neuroblastoma is an extremely rare site of metastasis from primary extracranial disease. Direct parenchymal involvement of the neuraxis without disease involving the overlying bone, dura, or venous sinuses is even rarer. We report a case of pelvic neuroblastoma with cerebral and cerebellar metastasis and communicating hydrocephalus, probably caused by diffuse leptomeningeal involvement. Clumps of neuroblastoma cells were seen in the cerebrospinal fluid (CSF). The CSF pathway was the probable route for neuraxis dissemination.
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PMID:Primary pelvic neuroblastoma with central nervous system metastases. 764 Jan 87

Till june of 1990 all newborns borned in the authors' hospital were examined with ultrasound before discharge. 7582 newborns were screened during 5 years. 120 urinary abnormalities were found (1.58%). Eleven of 26 hydronephrosis were operated and one of the two multicystic kidneys. 6 unilateral agenesis of kidney, 12 unilateral hypoplasies and 30 duplex kidneys were found. 2 of the laters had hydronephrosis, too. The form of position of 37 kidneys were abnormal. 463 newborns had pyelectasy (6.1%). All were recovered spontaneously but one of them had a gross vesico-ureteric reflux. 31 cerebral malformations were found, one of them was a progressive hydrocephalus. Two of the three babies with cerebral arterio-venous malformation died because of circulatory insufficiency. There were 38 abdominal malformations: 3 hepatic and 7 splenic cysts, 3 bile stones and one neuroblastoma were the most important. 86 delivery injuries were found: 60 adrenal apoplexies, 2 hepatic ruptures and 24 intracranial hemorrhages. All healed. The ultrasound screening in the 19-20th weeks of pregnancy showed only 24% of serious renal and cerebral malformations. The authors think important to screen newborns with ultrasound.
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PMID:[Ultrasonic screening of neonates]. 890 55

The neural cell adhesion molecule L1 mediates the axon outgrowth, adhesion, and fasciculation necessary for proper development of synaptic connections. Mutations of human L1 cause an X-linked mental retardation syndrome termed CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia, and hydrocephalus), and L1 knock-out mice display defects in neuronal process extension resembling the CRASH phenotype. Little is known about the biochemical or cellular mechanism by which L1 performs neuronal functions. Here it is demonstrated that clustering of L1 with antibodies or L1 protein in rodent B35 neuroblastoma and cerebellar neuron cultures induced the phosphorylation/activation of the mitogen-activated protein kinases (MAPKs) and extracellular signal-regulated kinases 1 and 2. MAPK activation was essential for L1-dependent neurite outgrowth, because chemical inhibitors [2-(2'-amino-3'-methoxyphenyl)-oxanaphthalen-4-one and 1,4-diamino-2, 3-dicyano-1,4-bis(2-aminophenylthio)butadiene] of the MAPK kinase MEK strongly suppressed neurite outgrowth by cerebellar neurons on L1. The nonreceptor tyrosine kinase pp60(c-src) was required for L1-triggered MAPK phosphorylation, as shown in src-minus cerebellar neurons and by expression of the kinase-inactive mutant Src(K295M) in B35 neuroblastoma cells. Phosphatidylinositol 3-kinase (PI3-kinase) and the small GTPase p21(rac) were identified as signaling intermediates to MAPK by phosphoinositide and Rac-GTP assays and expression of inhibitory mutants. Antibody-induced endocytosis of L1, visualized by immunofluorescence staining and confocal microscopy of B35 cells, was blocked by expression of kinase-inactive Src(K295M) and dominant-negative dynamin(K44A) but not by inhibitors of MEK or PI3-kinase. Dynamin(K44A) also inhibited L1 antibody-triggered MAPK phosphorylation. This study supports a model in which pp60(c-src) regulates dynamin-mediated endocytosis of L1 as an essential step in MAPK-dependent neurite outgrowth on an L1 substrate.
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PMID:A MAP kinase-signaling pathway mediates neurite outgrowth on L1 and requires Src-dependent endocytosis. 1081 53

The authors report on two patients with classic medulloblastoma, each of whom underwent extensive therapy-associated neuronal maturation. The first patient presented at 3 months of age with hydrocephalus caused by a 5-cm tumor in the cerebellar vermis. He underwent a gross-total resection of a desmoplastic medulloblastoma. No mature elements were identified. Despite adjuvant chemotherapy, a 1.5-cm recurrent tumor developed 6 months later. Sections from the subtotally resected tumor demonstrated exclusively mature neuronal elements, ranging from neurocytes to ganglion cells. Four months later, a second recurrent tumor was resected. The specimen collected this time demonstrated classic medulloblastoma morphological characteristics. The patient was subsequently treated with radiation therapy, which seemed to have an effect; however, the tumor eventually progressed and the patient died. The second patient presented at 3 years of age with a midline medulloblastoma and was treated with subtotal resection, radiation therapy, and chemotherapy. Although the tumor remained stable on radiographic imaging, a second resection was performed 8 years later to alleviate hydrocephalus. Histological examination revealed predominantly small mature neurons with scattered ganglion cells and extensive calcification. No adjuvant therapy was given and the patient is alive and well as of his last follow-up examination. The mature neuronal neoplasms resected in both patients demonstrated negligible proliferative indices and stained appropriately with neuronal immunohistochemical markers. The smaller neuronal population resembled those of a central neurocytoma and medullocytoma/cerebellar neurocytoma. Analogous to neuroblastoma, our cases suggest that adjuvant therapy can induce extensive or complete neuronal maturation in medulloblastoma. Additional cases must be studied to determine the prognostic significance of this rare phenomenon.
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PMID:Medulloblastomas with extensive posttherapy neuronal maturation. Report of two cases. 1093 22

We present the case of a newborn with Costello syndrome who died due to heart arrhythmia. In the autopsy, a neuroblastoma was found. The male patient was born at term. During the first hours of life, he developed severe respiratory failure requiring mechanical ventilation. Phenotypic features included cranial and facial dysmorphia, short thorax, tachycardia, heart murmur, abdominal distention, hepatomegaly, short extremities, widespread petechias, diminished muscular tone, ungueal hypoplasia in toes, bilateral cryptorchidia, and generalized redundant skin. In the evolution he presented several sepsis episodes, difficulty for feeding, supraventricular arrhythmia, two heart arrests, and opisthotonos, and died at 65 days of life due to heart arrhythmia. The autopsy revealed hydrocephaly, a neuroblastoma, and a heart without anatomic alterations. Costello syndrome was diagnosed. Costello syndrome is not frequent; in this patient, the diagnosis was suspected in life and was confirmed postmortem, the topic is reviewed, the important aspect in this case is the association with a neuroblastoma.
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PMID:[Costello syndrome associated to a neuroblastoma. Presentation of a case]. 1113 63

The neural adhesion molecule L1 mediates the axon outgrowth, adhesion, and fasciculation that are necessary for proper development of synaptic connections. L1 gene mutations are present in humans with the X-linked mental retardation syndrome CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia, hydrocephalus). Three missense mutations associated with CRASH syndrome reside in the cytoplasmic domain of L1, which contains a highly conserved binding region for the cytoskeletal protein ankyrin. In a cellular ankyrin recruitment assay that uses transfected human embryonic kidney (HEK) 293 cells, two of the pathologic mutations located within the conserved SFIGQY sequence (S1224L and Y1229H) strikingly reduced the ability of L1 to recruit 270 kDa ankyrinG protein that was tagged with green fluorescent protein (ankyrin-GFP) to the plasma membrane. In contrast, the L1 missense mutation S1194L and an L1 isoform lacking the neuron-specific sequence RSLE in the cytoplasmic domain were as effective as RSLE-containing neuronal L1 in the recruitment of ankyrin-GFP. Ankyrin binding by L1 was independent of cell-cell interactions. Receptor-mediated endocytosis of L1 regulates intracellular signal transduction, which is necessary for neurite outgrowth. In rat B35 neuroblastoma cell lines stably expressing L1 missense mutants, antibody-induced endocytosis was unaffected by S1224L or S1194L mutations but appeared to be enhanced by the Y1229H mutation. These results suggested a critical role for tyrosine residue 1229 in the regulation of L1 endocytosis. In conclusion, specific mutations within key residues of the cytoplasmic domain of L1 (Ser(1224), Tyr(1229)) destabilize normal L1-ankyrin interactions and may influence L1 endocytosis to contribute to the mechanism of neuronal dysfunction in human X-linked mental retardation.
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PMID:Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions. 1122 39

The L1 adhesion molecule regulates axon growth and is mutated in the X-linked mental retardation syndrome CRASH (acronym for corpus callosum agenesis, retardation, aphasia, spastic paraplegia, hydrocephalus). A novel role for L1 as a potentiator of neuronal cell migration to extracellular matrix proteins through beta1 integrins and intracellular signaling to mitogen-activated protein (MAP) kinase was identified. L1 potentiated haptotactic migration of B35 neuroblastoma cells toward fibronectin, vitronectin, and laminin through the signaling intermediates c-Src, phosphatidylinositol-3 kinase, and MAP kinase. L1 potentiated migration toward fibronectin through alpha5beta1 integrin in human embryonic kidney 293 cells and depended on determinants of L1 endocytosis: dynamin I, c-Src, and the AP2/clathrin binding site (Arg-Ser-Leu-Glu) in the neuronal splice form of L1. L1 clustering on the cell surface enhanced the internalization of activated beta1 integrins and L1 into distinct endocytic vesicles. L1-potentiated migration, enhancement of beta1 integrin endocytosis, and activation of MAP kinase were coordinately inhibited by mutation of an RGD sequence in the sixth immunoglobulin-like domain of L1. Moreover, three CRASH mutations in the L1 cytoplasmic domain (1194L, S1224L, Y1229H), two of which interfere with ankyrin association, inhibited L1-potentiated migration and MAP kinase activation. Function-blocking antibodies to L1 and beta1 integrin retarded the migration of 5-bromo-2'-deoxyuridine-labeled mouse cerebellar granule cells in slice cultures, underscoring the potential physiological relevance of these findings. These studies suggest that L1 functionally interacts with beta1 integrins to potentiate neuronal migration toward extracellular matrix proteins through endocytosis and MAP kinase signaling, and that impairment of this function by L1 cytoplasmic domain mutations may contribute to neurological deficits in CRASH.
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PMID:The neural cell adhesion molecule L1 potentiates integrin-dependent cell migration to extracellular matrix proteins. 1207 89


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