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Special issues in the management of gliomas in children with neurofibromatosis 1.

Neurofibromatosis 1 (NF1) is a common multisystem disorder that is frequently associated with neoplastic and non-neoplastic lesions within the central nervous system. Improvements in neuroimaging have led to increased detection of both types of lesions. Focal areas of increased T2 signal represent the most common abnormalities detected. The vast majority of such lesions are non-neoplastic and fluctuate in number and size during childhood. Optic pathway tumors are second in frequency and generally manifest an indolent natural history, although some lesions will increase in size over time and lead to progressive visual impairment. A smaller percentage of patients will develop gliomas within the cerebral and cerebellar hemispheres of brain-stem. This article will review areas of controversy in the evaluation and follow-up of patients with NF1 and will present our approach to these issues. We will also discuss therapeutic considerations in these patients that take into account the unique features of the underlying disorder.

Brain Neoplasms↗
PubMed1990

The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17.

We have investigated genetic linkage of von Recklinghausen neurofibromatosis (NF1) and achondroplasia (ACH) using chromosome-17 markers that are known to be linked to NF1. Physical proximity of the two loci was suggested by the report of a patient with mental retardation and the de novo occurrence of both NF1 and ACH. Since the chance of de novo occurrence of these two disorders in one individual is 1 in 600 million, this suggested a chromosomal deletion as a single unifying molecular event and also that the ACH and NF1 loci might be physically close. To test this, we performed linkage analysis on a three-generation family with ACH. We used seven DNA probes that are tightly linked to the NF1 locus, including DNA sequences that are known to flank the NF1 locus on the centromeric and telomeric side. We detected two recombinants between the ACH trait and markers flanking the NF1 locus. In one recombinant, the flanking markers themselves were nonrecombinant. Multi-point linkage analysis excluded the ACH locus from a region surrounding the NF1 locus that spans more than 15 cM (lod score less than -2). Therefore, analysis of this ACH pedigree suggests that the ACH locus is not linked to the NF1 locus on chromosome 17.

Achondroplasia↗
PubMed1981

Cell culture studies on neurofibromatosis (von Recklinghausen). I. Comparative growth experiments with fibroblasts at high and low concentrations of fetal calf serum.

The growth of strains of fibroblasts derived from patients with neurofibromatosis (NF) was compared with that of strains from appropriate controls in culture medium containing 1% or 15% fetal calf serum. The means of the ratios of final to initial cell numbers do not differ significantly between NF strains and control strains. Weakly significant differences are, however, obtained after conversion of the results to mean numbers of cell population doublings, the NF strains showing the higher numbers. The ratios of final to initial amounts of protein also differ significantly under both sets of growth conditions. High growth parameters occur significantly more frequently among our sample of 11 NF strains than among our sample of 13 control strains. The possibility of the expression of the NF genotype(s) on the level of the cultured fibroblast-like cells and the possible causes of the large ranges of inter- and intra-individual variations of the results are discussed.

Adolescent↗
PubMed1986

Cell culture studies on neurofibromatosis (von Recklinghausen). V. Monosomy 22 and other chromosomal anomalies in cultures from peripheral neurofibromas.

Cell cultures grown from peripheral neurofibromas of three patients suffering from sporadic peripheral neurofibromatosis (NF) were analysed cytogenetically at early in vitro passages. The NF-cultures exhibited a 6.7-fold higher frequency of aneuploid mitoses, including pseudodiploids, than the control cultures derived from the skin of three healthy donors. The predominant numerical anomaly was monosomy 22. Several, as yet unidentified marker chromosomes occurred in the NF-cultures, which also showed a much higher level of unstable chromosomal anomalies. The role of monosomy 22 in tumorigenesis of meningiomas and neurofibromas is discussed.

Cells, Cultured↗
PubMed1983

Cell culture studies on neurofibromatosis (von Recklinghausen). II. Occurrence of glial cells in primary cultures of peripheral neurofibromas.

The occurrence of glial cells in primary cultures established from peripheral neurofibromas of 18 patients with neurofibromatosis (von Recklinghausen) is described. The spindle-shaped cells can be distinguished from fibroblasts on the basis of morphological and ultrastructural criteria. As demonstrated by immunocytochemical analysis, the spindle cells express S-100 protein. Neither glial fibrillar acidic protein nor myelin basic protein can be detected in these cells. In many respects the spindle cells resemble immature Schwann cells in culture.

Cells, Cultured↗
PubMed1996

Neurofibromatosis type 1 and type I Chiari malformation: an unusual association.

We report an 11-year-old boy with neurofibromatosis type 1 (NF1) and asymptomatic type I Chiari malformation. This association may be considered a pure coincidence, due to the relative frequency of the two conditions, but recent reports describing the same association suggest that type I Chiari malformation probably should be added to the list of abnormalities of the central nervous system reported in patients affected by NF1.

Arnold-Chiari Malformation↗
PubMed1993

Pleomorphic xanthoastrocytoma associated with von Recklinghausen neurofibromatosis.

The authors present a case of pleomorphic xanthoastrocytoma that occurred in a 14-year-old boy with von Recklinghausen's neurofibromatosis. The circumscribed tumor with a cystic component was located in the medial right temporal lobe. The designation of pleomorphic xanthoastrocytoma has been suggested for this neoplasm on the basis of its unique histological features. These include positive glial fibrillary acidic protein staining.

Adolescent↗
PubMed1994

Early diagnosis of optic glioma in children with neurofibromatosis type 1.

Twenty-five asymptomatic patients with neurofibromatosis type 1 (NF 1), aged 6-21 years, underwent the following examinations: intracranial magnetic resonance testing (MRI), visual acuity testing, ophthalmoscopy, and visual field and pattern reversal visual evoked potentials (VEPs). MRI showed enlargement of one or both optic nerves in six children, with bilateral involvement in three. VEPs were normal in all these patients; two of them had abnormalities on other visual examinations, although there were no subjective visual disturbances. These results show that VEPs cannot be considered as a screening test for optic pathway lesions in children with NF 1, as previously stated, and that other types of visual function examination may be more sensitive. These data may contribute to the establishment of more precise guidelines for the evaluation and treatment of children with NF 1.

Adolescent↗
PubMed1993

Central nervous system imaging in reevaluation of patients with neurofibromatosis type 1.

We report the results of the reevaluation of 24 patients with neurofibromatosis type 1 (NF1) using central nervous system (CNS) imaging techniques. The first examination by computed tomography (CT) or magnetic resonance imaging (MRI) indicated the presence of optic glioma in three cases, "unidentified bright objects" (UBOs) in six, and a suspected right frontal tumor in one. In two patients optic glioma and UBOs were both present and in one of them a bulbar tumor was also suspected. Later imaging examinations revealed the appearance of optic glioma in three more cases and UBOs in nine. In two of these patients both optic glioma and UBOs were present. This study indicates that the likelihood of detecting imaging abnormalities in patients with NF1 increases when systematic follow-up is performed. Optic gliomas are characteristic of pediatric patients; they rarely give rise to clinical manifestations (1/6 cases) and in general progress very slowly. For these reasons, therapeutic strategy must be carefully considered and individually decided. UBOs are very frequent findings in pediatric patients with NF 1 and therefore they must be considered diagnostically relevant. They are not related to clinical manifestations and spontaneous regression has been observed. The nature of these imaging abnormalities is still unknown, but because they do not behave like tumors, useless and dangerous therapeutic procedures should not be employed.

Adolescent↗
PubMed1986

Cell culture studies on neurofibromatosis (von Recklinghausen's disease). IV. Collagen synthesis.

Comparative measurements of collagen synthesis as a portion of total protein synthesis were performed with fragments of peripheral neurofibromas, of skin adjacent to the tumors, and of unaffected skin from patients with neurofibromatosis (NF). No significant difference was found among these various samples. Collagen synthesis was also measured in cell cultures derived from peripheral neurofibromas of eight NF patients and from skin of ten healthy donors. No differences observed in the following respective parameters: dependence on the concentration of fetal calf serum; dependence on cell population density; portion of synthesized collagens in the culture medium and the cell layer. The ratios of synthesized collagen types III to type I, determined in five pairs of NF and control strains, vary within the same range.

Cell Count↗
PubMed1979

Malignant Schwannoma associated with von Recklinghausen's neurofibromatosis.

A series of 46 malignant schwannomas occurring in soft parts of patients having von Recklinghausen's neurofibromatosis was analyzed. The diagnosis of malignant schwannoma was based upon the occurrence of malignant spindled cells closely resembling Schwann cells in the neoplasm and the close association or origin of the malignant schwannoma in a neurofibroma (27 tumors), or a large peripheral nerve (31 tumors). Additional histologic features useful in making the diagnosis of malignant schwannoma included the arrangement of the spindled tumor cells in a whorled pattern about thin-walled, gaping blood vessels, perivascular cellular proliferation and the presence of prominent myxoid stroma containing abundant hyaluronidase-sensitive acid mucopolysaccharides. Nuclear palisading was present in only one case. Eight tumors containing both neoplastic Schwann cells and rhabdomyoblasts and five containing both neoplastic Schwann cells and rhabdomyoblasts (malignant "Triton" tumors) and five containing foci of malignant cartilage cells were included in the series. The neoplasms occurred principally in adults (median age, 34 years) and were most common in the lower extremity (18 cases) and retroperitoneum (11 cases). A mass with or without pain was the most common presenting symptom (28 cases). The median size of excised tumors was 11 cm. The malignant schwannomas were highly malignant neoplasms, causing the death of 39 patients within five years and two patients within 6--10 years after diagnosis. Only four patients were alive and free of tumor 5--15 years after diagnosis.

Adolescent↗
PubMed1981

Colonic ganglioneuroma. Report of a case in a patient with neurofibromatosis, multiple colonic adenomas and adenocarcinoma.

A 73 year old woman with cutaneous neurofibromatosis developed colonic carcinoma. The resected colon also contained multiple tubular adenomas and a polypoid ganglioneuroma. Multiple neurofibromas were seen during the operation over the serosal surface of the small intestine. Other cases of colonic ganglioneuromas and of combined neurogenic and epithelial colonic tumours are reviewed.

Adenocarcinoma↗
PubMed1983

Computed tomography of lambdoid calvarial defect in neurofibromatosis. A case report.

A patient with neurofibromatosis is reported in whom cranial computed tomography (CT) revealed a calvarial defect with an associated soft-tissue mass in the region of the left lambdoid suture. This defect has been the subject of several previous reports, having been demonstrated by means of conventional skull radiography. It should be included in the differential diagnosis when a lytic calvarial lesion is found on CT.

Adult↗
PubMed1981

Neurogenic sarcomas of the neck in neurofibromatosis.

Based on two observations and a review of the literature, the pathological and clinical findings in sarcomas of the neck in patients with neurofibromatosis are described. Histologically these neurogenic tumours show a manifold picture; in addition to spindle-cell sarcomas pleomorphic structures are to be found, which can be similar to rhabdomyo-, lipo-, chondro-, angio-, or osteogenic sarcomas so that a histological diagnosis of a neurogenic sarcoma cannot always be made without clinical details. Up to the present surgical treatment is preferred; the value of cytostatic therapy and irradiation is controversial. The results of treating these tumours are unsatisfactory. Of 29 cases reported in the literature, only two could be found in which the patient survived without a recurrence for more than five years.

Adolescent↗
PubMed1985

Neurofibroma-derived fibroblast-stimulating factor in the serum of patients with neurofibromatosis (von Recklinghausen's disease).

The effect of serum from patients with von Recklinghausen's disease [neurofibromatosis (NF)] on the cell growth and DNA synthesis of cultured neurofibroma-derived cells (NF fibroblasts grown from explant cultures of cutaneous neurofibromas from seven NF patients, and Schwann cells from a single-cell-suspension culture of the sample from one of these patients) was examined. Serum from patients with NF, whether autologous or allogeneic, enhanced the growth and 3H-thymidine uptake of NF fibroblasts twice as much as non-NF serum. Further study revealed that a dialysable, low-molecular-weight factor isolated from pooled NF serum was responsible for the stimulation of NF fibroblasts. This factor did not influence the DNA synthesis of either dermal fibroblasts cultured from non-NF patients or of Schwann cells. In contrast, no dialysable fraction of pooled serum from healthy persons exhibited such an NF-fibroblast-stimulating activity.

Adult↗
PubMed1985

Cell-culture studies on neurofibromatosis (von Recklinghausen's disease). III. Experiments on X-ray sensitivity.

The X-ray sensitivity of strains of fibroblast-like cells derived from peripheral neurofibromas of ten patients with neurofibromatosis was compared with that of 12 strains of skin fibroblasts derived from healthy donors. Quantitative parameters of the dose-dependent reduction in colony-forming ability did not differ significantly between these two groups of strains. The cloning efficiencies of nonirradiated controls varied within the same range in strains derived from patients and from healthy donors.

Cell Survival↗