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Query: UMLS:C0027651 (tumor)
 685,946 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Benign spinal nerve sheath tumors (neurofibromas and schwannomas) often occur on dorsal nerve roots sporadically or in neurofibromatosis types 1 and 2. These are histologically benign tumors, and distinction between them is frequently not made by clinicians. To determine if there is a correlation between the histological pattern of benign spinal nerve sheath tumors and the type of neurofibromatosis, the clinical and pathological features of these tumors (86 surgical specimens and five autopsies) in 68 patients were reviewed. The patients were classified into one of four categories: neurofibromatosis type 1, neurofibromatosis type 2, uncertain, or sporadic. The diagnostic criteria used for neurofibromatosis types 1 and 2 were established by the National Institutes of Health. Patients who did not fulfill criteria for either neurofibromatosis type 1 or 2 but who had multiple nervous system tumors or other stigmata of neurofibromatosis were designated "uncertain." Spinal nerve sheath tumors were considered sporadic in 42 cases (40 schwannomas and two neurofibromas). In the 14 patients with neurofibromatosis type 1, all spinal nerve sheath tumors were neurofibromas. In six of the seven patients with neurofibromatosis type 2, all spinal nerve sheath tumors were schwannomas. One patient with neurofibromatosis type 2 had a spinal nerve sheath schwannoma and a tumor with features of both tumor types. The authors conclude that spinal nerve sheath tumors in patients with neurofibromatosis type 1 are neurofibromas. In contrast, spinal nerve sheath tumors occurring in neurofibromatosis type 2 or sporadically are most frequently schwannomas. The distinct histological features of these tumors may reflect different pathogenetic mechanisms even though they arise at identical sites in neurofibromatosis types 1 and 2.
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PMID:Benign spinal nerve sheath tumors: their occurrence sporadically and in neurofibromatosis types 1 and 2. 184 9

The mechanism of regulatory expression of human cytochrome P-450scc gene by cAMP was investigated in a transient expression system using Y-1 cells (mouse adrenal tumor cell line) and a chimeric DNA composed of the structural gene for bacterial chloramphenicol acetyltransferase and the 5' flanking upstream sequence of the cytochrome P-450scc (cholesterol desmolase) gene which was revealed to contain a DNA element(s) responsive to cAMP [Inoue, H. et al. (1988) Eur. J. Biochem. 171, 435-440]. Introduction of deletions and point mutations in the upstream regulatory sequence demonstrated that three regions were mainly required for response to cAMP. These regions contained a short similar sequence. All of them have a 5-bp motif GTCAT (or ATGAC) in common, and have at least two motifs which conserve four out of five base pairs of the consensus sequence of the cAMP-responsive element (CRE), CGTCA (or TGACG). They are all apparently necessary for regulation by cAMP. Gel mobility shift assays suggested that a binding factor(s) to these regions was present in the nuclear extracts of Y-1 cells and adrenal cortex tissues and appeared to be different from the somatostatin CRE-binding protein. Deletion analysis also suggested that the region around -44 was essential to the basal transcriptional activity. This region shows some similarity to the CTF NF-1 binding site [Johnson and McKnight (1989) Annu. Rev. Biochem. 58, 799-839].
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PMID:Structures of regulatory regions in the human cytochrome P-450scc (desmolase) gene. 184 89

The neurofibromatoses are two distinct entities with different genetic origins. The phenotypic expressions and required treatments are different. The devastating nature of neurofibromatosis-2 may be more effectively controlled through the application of advanced imaging techniques and contemporary neurotologic procedures. The most common manifestation of neurofibromatosis-2 is that of bilateral acoustic neuromas. The eventual total bilateral sensorineural deafness associated with this condition can be obviated in selected cases if the diagnosis is established early. Follow-up data are reported for three patients in whom hearing was preserved in at least one ear. When removal with hearing preservation is not possible, subtotal tumor removal with decompression of the internal auditory canals may delay progression of hearing loss. A new approach to tumors of the pterygomaxillary fossa that have extended to the middle cranial fossa has been successfully applied and is described.
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PMID:Contemporary management of neurofibromatosis. 189 90

Magnetic resonance imaging (MRI) was used to evaluate 22 histologically proven peripheral nerve sheath tumors, approximately two-thirds of which arose in the lower extremity. The histologic distribution was as follows: 12 schwannomas, 7 neurofibromas, and 3 malignant peripheral nerve sheath tumors (2 of which occurred in patients with neurofibromatosis). Most lesions demonstrated an intermediate to moderately bright signal on T1-weighted images and were minimally inhomogeneous. All lesions were moderately bright on proton-density-weighted images and bright on T2-weighted images, again with variable inhomogeneity. The extent of the tumor was best assessed on proton-density- and T2-weighted images. Smooth margins were noted in 19 lesions. Of the 3 remaining lesions, 2 were malignant (but had been subjected to biopsy prior to MRI), and the other lesion was a plexiform neurofibroma. MRI accurately determined the relationship between the lesion and the adjacent neurovascular structures and muscles, thereby assisting surgical management. On MRI, 5 lesions demonstrated coexistent subtle muscle atrophy along the longitudinal axis of surrounding or distally innervated musculature. This latter finding, together with the presence of a tumor in the vicinity of a large nerve trunk, suggests a peripheral nerve sheath neoplasm.
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PMID:Magnetic resonance appearance of peripheral nerve sheath tumors. 190 Mar 74

Between March, 1983, and February, 1989, 19 infants or children with chiasmal/hypothalamic gliomas were treated with chemotherapy after either surgical or radiological diagnosis. The patients ranged in age from 15 weeks to 15.6 years (median 3.2 years) at the start of therapy. Twelve patients were treated immediately after diagnosis because of progressive symptoms, and seven received chemotherapy after either radiographic progression or clinical deterioration, including progressive visual loss or intracranial hypertension. Based on biopsy results, seven of these tumors were classified as juvenile pilocytic astrocytomas, two as astrocytomas, two as highly anaplastic astrocytomas, and one as a subependymal giant-cell astrocytoma. There was associated neurofibromatosis in four patients. The two initial patients were treated with either actinomycin D and vincristine or 5-fluorouracil, hydroxyurea, and 6-thioguanine. The remaining patients received nitrosourea-based therapy; 15 evaluable patients were treated with a five-drug regimen that included 6-thioguanine, procarbazine, dibromodulcitol, 1-(2-chloroethyl)-3-cyclohexyl-1-nitrosourea (CCNU), and vincristine and one received 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU) and 5-fluorouracil. Fifteen of the 18 evaluable patients initially managed with chemotherapy either responded to therapy or their condition stabilized. Median time to tumor progression has not been reached at a median follow-up period of 79 weeks (range 6.6 to 303 weeks), and no tumor-related death has occurred with a median follow-up period of 79 weeks (range 18 to 322 weeks) from the initiation of therapy. The four patients who failed therapy or whose disease progressed after chemotherapy were treated satisfactorily with radiation therapy. Initial improvement or stabilization of visual function was obtained in 16 patients. Endocrine function remained stable in all patients during treatment, although three patients required pharmacological treatment for endocrinopathy that was present at diagnosis. These preliminary results suggest that nitrosourea-based cytotoxic regimens are useful for the initial treatment of children with chiasmal/hypothalamic gliomas, and allow potentially harmful radiation therapy to be deferred until progression of disease.
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PMID:Management of chiasmal and hypothalamic gliomas of infancy and childhood with chemotherapy. 190 97

Three patients (two females and one male) with radiculospinal neurologic involvement secondary to different forms of neurofibromatosis are reported. The first two met the diagnostic criteria for NF-1, although case 2 had a posterior fossa meningioma, which is an uncommon finding in this group. The male patient had an apparently sporadic NF-2, with bilateral acoustic nerve neurinoma, multiple meningioma, multiple radicular neurinoma and an intraspinal tumor apparent in magnetic resonance imaging. In the three cases the whole central nervous system was evaluated with gadolinium-enhanced magnetic resonance imaging. A great number of radicular tumors, many of which were asymptomatic, were detected. In spite of the severity of the clinical features, the three patients showed a dramatic improvement after the surgical removal of the symptomatic tumors. The use of magnetic resonance is encouraged, owing to its high resolution and safety, for the assessment of incidence, character and localization of tumors in neurofibromatosis and to establish a good clinico-lesional correlation before surgery. This technique may help to a better understanding of the spectrum of abnormalities in each type of neurofibromatosis, thus facilitating the evaluation of this complex condition.
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PMID:[Multiple nerve root tumors and neurofibromatosis: contribution of magnetic resonance imaging]. 190 40

Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder mapped to 17q11.2 and typically characterized by the occurrence of neural crest-derived tumors. The gene has recently been cloned using reverse genetics or "positional cloning" approaches. Its function, however, remains unknown. We have performed cytogenetic and molecular analyses on 9 malignant tumors from NF1 patients to look for loss of alleles or chromosome rearrangements involving chromosome 17 to test the hypothesis that the NF1 gene acts as a recessive "tumor suppressor" gene. Loss of alleles on this chromosome was detected for 3 of 9 malignant tumors. Two peripheral nerve sheath tumors showed allele loss at informative loci on both the long and short arms of chromosome 17. In contrast, a glioblastoma with focal gliosarcoma showed loss of heterozygosity on the short arm of chromosome 17 only, and not at loci on the long arm. One nerve sheath tumor was previously shown by direct sequence analysis to have a point mutation at the TP53 locus at 17p13. These data support a role for the TP53 gene or other genes on the short arm of chromosome 17 in at least some malignancies in NF1. Six other neurofibrosarcomas showed no allele loss at informative loci on chromosome 17. Cytogenetic analysis was performed on 7 tumors, including 2 with allele loss. The two tumors with allele loss showed abnormal karyotypes while all others were normal. Southern blot and pulsed-field gel analysis using probes within or closely linked to the NF1 locus detected no gross deletions or rearrangements in the tumors studied.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis. 190 41

Fifty-seven patients with optic gliomas, treated by megavoltage radiotherapy between May 1970 and March 1986, are retrospectively analyzed. The mean follow-up was 7.5 years (2.5-16.5). At presentation, 46% were under 10 years old, 40% had neurofibromatosis, and 51% had neurological and/or endocrinological signs. Twenty-one tumors (37%) were confined to the optic chiasm, and 36 tumors (63%) extended to the hypothalamus, the posterior optic tract, or the adjacent brain. Two among the 16 biopsy-proven tumors were high grade gliomas. Delivered tumor doses were 40 to 60 Gy in 5 to 7 weeks. Forty-nine patients were alive (five with tumor evolution) and eight had died (five from the tumor, one from cerebrovascular complication, two from intercurrent disease). Overall actuarial survival was 83.5% at 5 and 10 years. Control of the disease in 53 evaluables patients was: complete response in 8 (15%), partial response in 25 (46%), and no progression in 12 (22%). Progressive disease was observed in three patients and signs evocative of recurrence in five others. Stabilization of visual impairment or improvement of vision was recorded in 93% of patients who were evaluable. A critical review of the literature is presented and complications discussed. Radiotherapy seems thus effective in chiasmal gliomas and must be delivered in cases of rapidly developing symptoms visual, neurological, or endocrine.
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PMID:Chiasmal gliomas: results of irradiation management in 57 patients and review of literature. 190 59

We present a case of plexiform neurofibroma of the pelvis in a patient with neurofibromatosis using magnetic resonance imaging (MRI) with computed tomography (CT) correlation. We discovered an extensive pelvic mass with a slightly greater signal intensity than muscle in T1-weighted images and a marked increased signal intensity in T2-weighted images. Multiple hypointense septations were identified throughout the tumor, particularly in the T2-weighted images. The MR appearance of pelvic plexiform neurofibroma is identical to those found in spinal and paraspinal locations. In the presence of an extensive pelvic mass in a patient with neurofibromatosis, MRI is recommended in evaluating and diagnosing plexiform neurofibroma. Since the MRI appearance of this tumor is characteristic, other lesions can possibly be ruled out. In addition, MRI's multiplanar capability is ideally suited to demonstrate the extension of these large tumors.
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PMID:Plexiform neurofibroma of the pelvis: CT and MRI findings. 190 33

To identify new DNA markers around the neurofibromatosis-2 gene on human chromosome 22, the critical region (22q12-q13.1) was microdissected and microcloned from GTG-banded metaphase chromosomes. Eighteen thousand recombinant clones were obtained. Twenty-seven of 55 clones tested (50%) detected single-copy DNA sequences. Nine of nine clones analyzed in detail were found to map to chromosome 22. Interestingly one clone (EAN04) is part of the leukemia inhibitory factor gene which has previously been mapped to 22q11.2-q13.1. Four clones (EAN01, EAN47, EAN57, and EAN68) detect DNA polymorphisms. These probes were used to compare constitutional and tumor genotypes of 41 patients with acoustic neurinoma. Loss of constitutional heterozygosity was identified in 17 of 31 informative cases (55%). From our data we conclude that the microdissection library is a valuable resource for physical and genetic mapping studies in neurofibromatosis-2.
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PMID:New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22. 190 84


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