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Immunohistochemical localization of type I, III, IV, V, and VI collagens and laminin in neurofibroma and neurofibrosarcoma.

By using antibodies to type I, III, IV, V, and VI collagens and laminin, we examined the localization of interstitial collagens and basement membrane components with indirect immunofluorescence and immunoelectron microscopy (IEM). Furthermore, the morphological changes of these collagens in malignant transformation were investigated. In neurofibroma, IEM showed type I, III, and V collagens to be present diffusely on cross-striated collagen fibrils, whereas type VI collagen was present between the fibrils. Type IV collagen and laminin were observed to surround tumor cells. In neurofibrosarcoma, tumor collagen bundles that reacted with antibodies to type I, III, V, and VI collagens were irregularly arranged. Immunofluorescent deposits that reacted with anti-type IV collagen and anti-laminin antibodies were decreased in number, showing a thin and sparse arrangement.

Collagen↗

Plexiform (multinodular) schwannoma. A tumor simulating the plexiform neurofibroma.

We describe a rare variant of schwannoma characterized by a interconnecting multinodular growth mimicking a plexiform neurofibroma. The schwannoma recurred twice. The second recurrence was not excised and has not increased in size for 1 1/2 years. The patient is alive and well, 3 years and 4 months after the first excision with no clinical evidence of metastasis.

Adult↗

Giant plexiform neurofibroma of the back.

Complete excision of a giant neurofibroma can be technically difficult. Thorough preoperative planning with magnetic resonance imaging, computed tomography, and arteriography are indicated to define the extent of the mass and to facilitate operative planning. By following the treatment guidelines discussed in this case report, the authors feel that these tumors can be excised safely with minimal morbidity.

Adult↗

Intraoperative discovery of a neurofibroma during routine ptosis surgery.

A noncosmetic blepharoplasty with levator tuck was planned to repair a congenital ptosis presumed to be caused by levator maldevelopment. During surgery a mass was found in the lid, revealing the ptosis to be mechanical in nature. Biopsy and subsequent pathological exam revealed this to be a plexiform neurofibroma in a reportedly undiagnosed patient.

Adolescent↗

Sarcomatous transformation of neurofibromas. Comparative imaging with Ga-67, Tl-201, Tc-99m pentavalent DMSA and Tc-99m MIBI.

A 29-year-old man, with a history of von Recklinghausen's disease, presented with progressive dyspnea associated with a rapidly growing mass on the right chest wall. Plain radiograph and CT of the chest revealed a huge soft-tissue mass with central low-density area involving the right upper lung and chest wall. SPECT imaging with Ga-67 citrate, Tl-201 chloride, Tc-99m pentavalent DMSA (V-DMSA), and Tc-99m MIBI were performed to characterize the mass. The tumor concentrated Ga-67, Tl-201, and Tc-99m (V) DMSA, but not Tc-99m MIBI. Punch biopsy of the lesion revealed malignant transformation of a thoracic neuroma (neurofibrosarcoma). Subsequently, findings compatible with the presence of a multidrug resistance-1 (MDR1) gene in the tumor was documented, which may explain the poor uptake of Tc-99m MIBI. The patient did not respond to intensive chemotherapeutic regimens, and died 3 months later. This case demonstrates the potential use of combined radionuclide imaging for the detection of malignant transformation of neurofibroma, as well as for predicting tumor response to chemotherapy.

Adult↗

Plexiform neurofibroma of the pelvis in neurofibromatosis: CT findings.

Three cases of intrapelvic plexiform neurofibromas are presented in patients with neurofibromatosis. In all three cases computed tomography demonstrated widespread sheets of nodular tissue lying in an extraperitoneal location in front of the sacrum or extending along the pelvic sidewalls . Symptomatology in these patients related to compression of either nerve roots or adjacent vessels. It is important to differentiate these lesions from pelvic lymphadenopathy to prevent a mistaken diagnosis of malignant disease.

Adolescent↗

Segmental colonic involvement of plexiform neurofibroma in neurofibromatosis type 1.

In a 36-year-old man with neurofibromatosis type 1, rare colonic involvement of plexiform neurofibroma is presented. The diagnosis was confirmed by operation. Radiologic findings consisted of marked concentric thickening of the colonic wall with variable attenuation, namely, a "multilayer appearance," as well as clusters of multiple soft tissue nodules in the mesentery.

Adult↗

Combined laminectomy and thoracoscopic resection of a dumbbell neurofibroma: technical case report.

OBJECTIVE AND IMPORTANCE: We describe combined laminectomy and thoracoscopic surgery for removal of a dumbbell thoracic spinal tumor to demonstrate the feasibility of such an approach. CLINICAL PRESENTATION: We present the case of a 29-year-old man who developed chest pain and spinal cord compression from a thoracic dumbbell neurofibroma. TECHNIQUE: Surgical approaches for benign nerve sheath tumors that extend from the spinal cord into the thoracic cavity include combined laminectomy and thoracotomy either in one or two stages, or a lateral extracavitary approach involving laminectomy, facetectomy, and rib resection in a single stage. We performed a combination laminectomy and thoracoscopic tumor resection in a single stage with good results. CONCLUSION: This technique has not been reported previously in the literature. It has the advantage of avoiding the potential morbidity of a thoracotomy, as well as the extensive muscle dissection and pain associated with the lateral extracavitary approach.

Adult↗

Neurofibroma of the ear: function and aesthetics.

The cutaneous stigmata of neurofibromatosis can be significantly deforming and a source of great anguish. The disease has no cure. Excision of an auricular neurofibroma in a middle-aged man removed an occlusive mass in the ear canal. A suspension of the ear was performed using a strip of Marlex mesh. This technique may offer a more lasting result than autogenous grafts.

Ear Neoplasms↗

Intratracheal neurofibroma.

We have described a unique example of intratracheal neurofibroma in a patient with neurofibromatosis. Although tracheal neoplasms are rare, they should be considered in the presence of obstructive respiratory symptoms. Careful scrutiny of plain roentgenograms with special views should be undertaken for optimal evaluation.

Adolescent↗

Gastric neurofibroma in an adolescent.

A 14-year-old white girl with a large, bleeding, ulcerated mass of the stomach was treated with surgical excision. Histologically, the mass was a plexiform neurofibroma. These tumors are uncommon, especially in the pediatric age group, and are best treated by surgical resection.

Adolescent↗

Macrodactyly of the foot associated with plexiform neurofibroma of the medial plantar nerve.

A case of macrodactyly of the foot associated with plexiform neurofibroma of the digital branches of the medial plantar nerve is reported. The purpose of this article is to investigate the nature of the association of the rare localization of macrodactyly with a pathognomonic feature of von Recklinghausen disease. The case was approached by semiconservative surgical treatment. Two-year follow-up has shown no relapse of the deformity. These facts suggest that this case of macrodactyly was sustained by an underlying disorder, namely, a "forme fruste" of neurofibromatosis, implying the existence of a still unknown pathogenetic mechanism.

Child, Preschool↗

A retrovirus isolated from cell lines derived from neurofibromas in bicolor damselfish (Pomacentrus partitus).

Damselfish neurofibromatosis (DNF) is a naturally occurring, neoplastic disease affecting bicolor damselfish (Pomacentrus partitus) living on coral reefs in southern Florida, USA. The disease consists of multiple neurofibromas, neurofibrosarcomas and chromatophoromas and has been proposed as an animal model for neurofibromatosis type 1 in humans. DNF is transmissible by injection of crude tumour homogenates, cell-free filtrates of homogenates or cells from tumour cell lines. An analysis of tumorigenic cell lines derived from fish with spontaneous or experimentally induced DNF revealed virus particles budding from cells and present in conditioned media. The 90-110 nm particles resembled type C retroviruses. This virus exhibited a buoyant density of 1.14-1.17 g/cm2 in sucrose, at least six virus proteins of 15 to 80 kDa and reverse transcriptase (RT) activity. RT activity was maximized with a poly(rC).oligo(dG) template.primer combination and Mn2+ at a concentration of 0.5-1.0 mM. The optimum temperature for RT was determined to be 20 degrees C, a finding consistent with the ambient temperatures encountered by this species. This retrovirus, tentatively named damselfish neurofibromatosis virus (DNFV) may be the aetiological agent of DNF. Whether DNFV or another, as yet unidentified, virus is the cause of DNF, this agent may be unique in virus oncogenesis; neoplastic transformation of the cell types involved in DNF, Schwann cells and chromatophores, has not been documented in any other transmissible tumour.

Animals↗

Glycosaminoglycans in neurofibromas.

Glycosaminoglycan (GAG) contents in neurofibromas (NFs) were examined to clarify how well they corresponded to their histological features. Eight cutaneous NFs and three plexiform NFs from five patients with Recklinghausen's (R) disease, two senile NFs and control dermis were subjected to the isolation of GAGs. The GAGs were then fractionated and quantitated with two-dimensional electrophoresis on cellulose acetate membranes. Dry weight/wet weight ratios of the NFs were lower than those of the controls; the plexiform NFs were the lowest. In these plexiform NFs, hyaluronic acid (HA) content was most increased and dermatan sulfate (DS) content most decreased, resulting in a marked decrease in the DS/HA ratio. Both cutaneous and senile NFs showed moderate decreases in DS content, increases in chondroitin sulfate and heparan sulfate contents, and slight increases in HA content, resulting in moderate decreases in the DS/HA ratio. Considering that cutaneous or senile NFs are relatively more fibrotic tumors than plexiform NFs, these differences in the GAGs between plexiform NFs and cutaneous or senile NFs appear to be consistent with the changes in GAGs previously described in physiological and pathological conditions such as fibrotic diseases. Thus these results suggest that studies of hereditary disorders like R disease might be useful for understanding the pathogenesis of so-called acquired diseases with unknown etiology.

Adult↗

Pigmented neurofibroma.

Pigmented neurofibroma is a rare tumour of the dermis. The clinical features and histology of a lesion occurring in a female of 69 years are described in this report. This entity was first described by Willis in 1959 in three patients with pigmented dermal tumours which showed a plexiform structure and the presence of pseudo-Meissnerian bodies.

Aged↗

Characterization of cultured neurofibroma cells derived from von Recklinghausen's disease.

We have examined the cytoplasmic distribution of actin and fibronectin in cultured neurofibroma cells (NF cells) derived from a patient with von Recklinghausen's disease by using phase contrast and indirect immunofluorescence microscopy. NF cells were larger in size and more dendritic in shape compared to normal human dermal fibroblasts. NF cells also showed abundant granular staining of actin and a decrease in the linear staining pattern of fibronectin. Furthermore, employing a colony-formation assay on the top of an agar-gel in the presence of fibroblast growth factor (FGF), normal fibroblasts showed a significant number of colonies, whereas NF cells did not demonstrate colony formation even after addition of FGF. These findings suggests that NF cells from patients with von Recklinghausen's disease may have different characteristics when compared with normal fibroblasts, and that NF cells are similar to transformed cells with regard to their actin and fibronectin distribution.

Actins↗

Multiple congenital melanocytic naevi presenting with neurofibroma-like lesions complicated by malignant melanoma.

Giant congenital pigmented naevi and neurofibromatosis (NF-1) may rarely occur together. We report an unusual case where extensive congenital melanocytic naevi were associated with neurofibroma-like lesions that were clinically and histologically confused with neurofibromatosis. The development of malignant melanomas within the pigmented and pendulous lesions representing multiple congenital melanocytic naevi highlights the importance of an accurate diagnosis and a close follow-up of such patients.

Diagnosis, Differential↗