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

The review deals with neuroblastoma, its frequency, localization, features of its clinical course and microscopic patterns. The ability of neuroblastoma for maturation and sometimes for spontaneous regression as well as the relationship between tumors of the autonomous nervous system and the so-called neuroblastoma in situ and von Recklinghausen's disease are discussed. Some light and electron microscope differential diagnostic criteria are given. An attempt is made to explain certain clinico-biological features of neuroblastoma from the point of view of current embryological data.
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PMID:[Neuroblastoma]. 11 46

Case reports of neuroblastoma revealed that some individuals are genetically predisposed and that this genetic predisposition may have other consequences. According to a mutation model, two classes of individuals could acquire neuroblastoma. One (prezygotic) was a rare class that carried a dominant gene imparting high risk of the tumor. The other (postzygotic) comprised all other individuals, each at low risk. The model related tumor incidence to germinal and somatic mutation rates and thereby carried implications for environmental modification of tumorigenesis and demographic variation in incidence. Case reports also revealed associations of neuroblastoma with congenital defects and a susceptibility to second tumors. Analogy with retinoblastoma and Wilms' tumor of the kidney suggested that these associations could result from action of a neuroblastoma gene or from chromosomal aberration. One known dominantly inherited condition, von Recklinghausen's disease, could dispose to neuroblastoma and create some associations. According to the two-mutation model, neuroblastoma may have been a single recessive gene disorder at the level of the cell. The phenomena of aganglionosis, neuroblastoma in situ, maturation of neuroblastoma to ganglioneuroma, and spontaneous regression suggested that such a neuroblastoma gene interfered with normal developmental processes. The specificities of this gene and of those for von Recklinghausen's disease and pheochromocytoma suggested that the functiof a membrane macromolecule.
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PMID:Developmental genetics of neuroblastoma. 18 2

Abnormalities of neural crest development may be manifested in a wide variety of ways ranging from von Recklinghausen's disease to Sipple's syndrome -- pheochromocytoma and medullary thyroid carcinoma. We report here yet another manifestation -- coexistent multiple neuroblastomas and Hirschsprung's disease in a newborn. In a review of the English literature we have found the combination of neuroblastoma and Hirschsprung's disease recorded only once previously [2]. However, the relationship between the two diseases was not discussed. The two diseases may be at the extremes of a spectrum of neural crest development pathology, i.e., Hirschsprung's representing a deficiency and neuroblastoma representing malignant proliferation of cells of neural crest origin.
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PMID:Coexistent neuroblastoma and Hirschsprung's disease--another manifestation of the neurocristopathy? 47 59

Neurofibromatosis type 1 (NF1) is caused by mutations in a large gene on chromosome 17q11.2. Previously described partial cDNAs for this gene predicted a protein related to yeast IRA1/IRA2 and the mammalian RAS GTPase activator protein GAP. To initiate a detailed study of the role of this gene in NF1, we have characterized a set of overlapping cDNAs that represent its complete coding sequence. Our results show that two differentially expressed human NF1 mRNAs differ by a 63-bp insertion in the GAP-related domain. These mRNAs predict two 2,818- and 2,839-amino acid proteins with calculated molecular masses of approximately 317 and 319 kD. Extensive similarity to IRA proteins is evident in a 1,450-amino-acid central segment, roughly between amino acids 900 and 2,350. However, the remainder of the NF1 protein is not significantly similar to other proteins. Interestingly, the SK-N-SH human neuroblastoma line expresses no detectable NF1 mRNA, indicating that expression of NF1 is not essential for viability of this neural crest-derived tumor cell line.
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PMID:Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line. 145 41

We report a case of a malignant peripheral nerve sheath tumor arising from a retroperitoneal ganglioneuroma in an adult male. There was no known previous history of a childhood neuroblastoma or of radiation therapy. In addition, the patient had no stigmata or family history of von Recklinghausen's neurofibromatosis. This case provides evidence that, although rare, spontaneous malignant transformation of ganglioneuroma can occur. Immunohistochemical studies supported that the spindle cell component was of nerve sheath origin.
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PMID:Malignant peripheral nerve sheath tumor arising spontaneously from retroperitoneal ganglioneuroma: a case report, review of the literature, and immunohistochemical study. 154 74

A 360 residue region encoded by the neurofibromatosis type 1 (NF1) gene shows significant homology to the catalytic domains of both mammalian GTPase-activating proteins (GAP) and yeast IRA proteins. This GAP-related domain of the NF1 gene (NF1-GRD), like the GAP and IRA protein, has been reported to mediate hydrolysis of Ras-bound GTP to GDP, resulting in inactivation of Ras protein. In the present study, we identified two different types of NF1-GRD cDNA. One (type I) is identical to the previously reported sequence, and the other (type II) contained an additional 63 bp insertion that encodes for a region of 21 amino acids in the center of the NF1-GRD molecule. Alternative splicing is the most likely mechanism by which these two types of transcripts arise. Our observations reveal that the type I transcript is predominantly expressed in undifferentiated cells, whereas the type II transcript predominates in differentiated cells. Furthermore, the expression pattern of type I and type II NF1-GRD mRNA immediately changed in SH-SY5Y neuroblastoma cells when neuronal differentiation programs were induced by retinoic acid treatment. We propose that the differential expression of type I and type II NF1-GRD transcripts might be an 'on/off' switch that regulates the catalytic activity of the NF1 gene product, which plays an important role in the regulation of neuronal differentiation.
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PMID:Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. 192 22

We report an unusual case of progressive disseminated neuroblastoma occurring in a child with a family history and stigmata of von Recklinghausen's disease. A review of the literature confirms the extreme rarity of finding these two neurocristopathies in a single individual and thus undermines the widely held notion of an association--genetic or otherwise--between these two entities. We propose that synchronous neuroblastoma and von Recklinghausen's disease is accounted for by chance alone and therefore represents a randomly occurring phenomenon.
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PMID:Synchronous neuroblastoma and von Recklinghausen's disease: a review of the literature. 391 92

Ganglioneuroblastoma a transitional tumor of sympathetic origin has not yet been described as involving orbit. It is characterized by a mixture of cells ranging from primitive neuroblast to well differentiated ganglion cells within a neurofibromatous tissue. The prognosis is uncertain, as the tumor may either undergo maturation into a ganglioneuroma or may metastasize widely and rapidly as in neuroblastoma. We may postulate a relationship between ganglioneuroblastoma and Recklinghausen's neurofibromatosis in view of the development of the tumor in conjunction with the phacomatosis.
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PMID:[Ganglioneuroblastoma of the orbit]. 392 90

Sixteen cases of malignant peripheral nerve tumors that were recorded in the files of the Department of Orthopedics, National Cancer Center Hospital, Tokyo, between 1972-July 1983 were studied clinicopathologically. The patients' ages ranged from 24-51 years, and both sexes were affected equally. Histologically, in 13 cases of nerve sheath tumors the tumors were spindle-cell type, two of these patients had manifestation of multiple neurofibromatosis (von Recklinghausen's disease). One malignant epithelioid schwannoma was found to arise from the tibial nerve. Other two cases were of primitive neuroectodermal tumors (primary malignant peripheral neuroblastoma) which showed rosette formation. The common primary symptoms in all patients were a noticeable mass which increased in size over a variable period of time, with or without associated pain and tenderness. Ultrastructural findings of spindle-cell type (in 7 tumors examined) and epithelioid type (1 tumor) showed evidence of Schwann cell differentiation of the tumors in all cases. Immunohistochemically, by the PAP method (Sternberger), staining for S-100 protein was positive in 3 of 14 tumors. Ultrastructural findings in two S-100 protein-positive cases showed evidence of Schwann cell differentiation better than the S-100 protein-negative cases, such as pronounced interdigitation of cytoplasmic processes, presence of fibrous long-spacing collagen and well-developed basal lamina. Local recurrence occurred in nine patients, and metastasis was found in five. The total 5-year survival rate was 58.5%. Tumors associated with multiple neurofibromatosis and primary peripheral neuroblastomas had the worst prognosis. Complete removal of the tumor by means of wide excision as primary treatment seemed to be the most important factor in decreasing the morbidity and mortality rates.
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PMID:Malignant peripheral nerve tumors: a clinicopathological and electron microscopic study. 642 67

Two typical malignant peripheral nerve sheath tumors (PNST) arising in preexisting ganglioneuromas are described. To the best of our knowledge, this association of tumors has not been reported in detail previously. Neither patient had the stigmata nor family history of Von Recklinghausen's neurofibromatosis. In both cases, the ganglioneuromas evolved from more primitive neuroectodermal tumors (one neuroblastoma, one ganglioneuroblastoma) and both patients developed their malignant PNST at previously irradiated sites. Both patients died within 2 years of the diagnosis of their malignant PNST. The origin of these malignant PNSTs from Schwann cells is supported by an ultrastructural analysis of 27 neuroblastomas, ganglioneuroblastomas, and ganglioneuromas.
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PMID:Malignant peripheral nerve sheath tumors arising from ganglioneuromas. 669 63


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