Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “NEUROFIBROMA”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 199 records · Page 11Linked to original sources
PubMed2000

Solitary neurofibroma of the mesentery: report of a case and review of the literature.

Neurofibromas of the gastrointestinal tract are usually associated with neurofibromatosis type 1 (Nfl), or they are exclusive manifestations of the so-called "familial intestinal neurofibromatosis". Gastrointestinal neurofibromas can rarely occur as sporadic lesions in the jejunum and stomach, and only exceptionally in the mesentery. A critical review of the literature revealed that only seven cases of solitary neurofibromas (SNFs) of the mesentery (six in the ileal mesentery; one in the gastrocolic mesentery) have been reported in patients without stigmata of Nf1. We report the clinicopathologic features of an additional case of SNF of the ileal mesentery, incidentally found in a patient with an advanced gastric carcinoma. Since there is increasing evidence that some patients may have some features of Nf1, including dermal or nodular SNFs alone - limited to one or more body segments - (segmental Nf1), the possibility that SNFs of the mesentery may also represent a segmental manifestation of Nf1 is postulated.

Adenocarcinoma↗
PubMed2006

Neurofibroma derived from the deep peroneal nerve: a case report.

Neurofibromas may arise anywhere along a nerve from the dorsal root ganglion to the terminal nerve branches; however, peroneal nerve involvement is not common. Surgical resection of neurofibroma with total preservation of nerve function had been thought to be difficult. Here, we report a case of an intermuscular intraneural neurofibroma derived from the deep peroneal nerve in a patient with neurofibromatosis type 1. The diagnostic criteria, characteristics of imaging studies, and operative approach are described. The function of the deep peroneal nerve was preserved, with satisfactory results.

Adult↗
PubMedDate not supplied

A case of episcleral neurofibroma.

PURPOSE: To report a rare case of episcleral neurofibroma and discuss the possible differential diagnoses. METHODS: Case report of a 36-year-old man who presented with a painless epibulbar mass of the left eye. We describe the clinical and histopathologic features of the tumour and compare it with other tumours which may have a similar clinical presentation. RESULTS: An excisional biopsy of the tumour was performed. Histopathologic examination revealed the tumour to be an isolated episcleral neurofibroma. CONCLUSION: It is often difficult to clinically differentiate this tumour from other conditions. Because of the slow growth of neurofibromas and its slow risk of malignant transformation, these lesions may be observed periodically for progression. Surgical excision may be performed if the lesion is found to be progressively enlarging in size.

Adult↗
PubMed2002

Solitary neurofibroma of the spermatic cord.

We report a case of solitary neurofibroma of the spermatic cord. Such benign tumors arise from perineural and Schwann cells and may be located in various parts of the body, but are rarely observed in the spermatic cord. No clinical or laboratorial manifestations of von Recklinghausen disease (Neurofibromatosis) were identified. Distinct criteria have been established for a diagnosis of von Recklinghausen disease, so that a solitary neurofibroma may not represent this complex. Only a little number of solitary neurofibromas of the spermatic cord are reported in the literature.

Aged↗
PubMed2002

Thyroid gland neurofibroma in a NF1 patient.

Neurofibromas are a hallmark of neurofibromatosis type 1 (NF1). They are usually benign and rarely present in the thyroid gland region. There is a suspected association between NF1 and intramedullary thyroid carcinoma and there is a well-known association between NF1 and pheochromocytoma. Here, we present a 55-year-old man with typical symptoms of NF1, whose course was complicated by a neurofibroma of the thyroid gland. His clinical spectrum of symptoms included bilateral cataract established before the age of 35 years, quadriparesis and an intrathoracic mass. The patient died because of abdominal carcinomatosis of unknown origin. The rarity of thyroid gland neurofibroma is discussed here, emphasizing the importance of early detection of these and other NF1 complications, also including the risk of malignant transformation with lethal outcome.

Abdominal Neoplasms↗
PubMed2003

Expression of angiogenic factors in neurofibromas.

We studied the expression of angiogenic factors (vascular endothelial growth factor, basic fibroblast growth factor, platelet-derived growth factor and hepatocyte growth factor) in cutaneous neurofibroma samples from patients with neurofibromatosis-1. Immunohistochemical staining and the reverse transcribed polymerase chain reaction (RT-PCR) method demonstrated that vascular endothelial and basic fibroblast growths factor are highly expressed in neurofibroma cells at both the protein and mRNA level. These data suggest that vascular endothelial and basic fibroblast growth factors may contribute to both the angiogenesis and hypervascularity of neurofibromas.

Angiogenic Proteins↗
PubMed1998

Nerve sheath tumours with hybrid features of neurofibroma and schwannoma: a conceptual challenge.

AIMS: To characterize and delineate a subset of rare nerve sheath tumours showing hybrid features of neurofibroma and schwannoma. METHODS AND RESULTS: Nine lesions were identified in the authors' files showing predominant features of neurofibroma with distinct, often nodular regions of classical schwannomatous differentiation. Most patients were adults, eight out of nine were male. Of the nine lesions, two were dermal, two were subcutaneous and five were subfascial. Five lesions had a plexiform architecture and one patient had overt neurofibromatosis. One out of six patients with follow-up developed local recurrence. Schwannoma-like regions displayed strong S100 staining, in contrast to more varied and limited S100 reactivity in neurofibromatous areas. The Antoni A areas could be quite cellular with high MIB-1 proliferation indices. No lesion underwent malignant change. CONCLUSIONS: Our results demonstrate that some nerve sheath tumours may contain histologically clear components of both neurofibroma and schwannoma, suggesting that (despite evident and well-defined clinicopathological differences) these two lesions may be even more closely related than previously recognized. Whether this phenomenon results from a localized microenvironmental change or from a clonal genetic alteration remains unknown.

Adolescent↗
PubMed2003

Diffuse neurofibroma on the lower back.

Diffuse neurofibroma is an uncommon form of neurofibroma, which occurs principally in children and young adults. This tumor presents most often in the head and neck region. We have seen a young girl with a diffuse neurofibroma on the lower back that was successfully excised.

Back↗
PubMed2002

Neurofibroma of the lacrimal sac.

Neurofibroma is an extremely rare neural tumor of the lacrimal sac. We present a case of neurofibroma of the lacrimal sac in a 45-year-old lady. Based on the history of intermittent epiphora, presence of a mass in the lacrimal sac region, dacryocystogram suggestive of space occupying lesion within the lacrimal sac and computed tomographic image of a tumor lying in the lacrimal fossa region, a tentative diagnosis of lacrimal sac neoplasm was made. Excision of the tumor with repair of the lacrimal sac was performed. Histopathology proved it to be neurofibroma of the lacrimal sac. Until now, only four cases have been reported worldwide. The paucity of reported cases limits our knowledge regarding the natural course, treatment, results and prognosis of this tumor.

Eye Neoplasms↗
PubMed1996

p53 expression in neurofibroma and malignant peripheral nerve sheath tumor. An immunohistochemical study of sporadic and NF1-associated tumors.

Malignant peripheral nerve sheath tumors (MPNST) are highly malignant sarcomas arising either de novo or in transition from neurofibroma. Although relatively little is known of the molecular genetic alterations that underlie their formation, recent DNA sequencing studies have demonstrated the presence of p53 mutations in some MPNST. This tumor-suppressor gene has been implicated in the progression of a variety of human malignancies, including sarcomas. Employing the anti-p53 monoclonal antibody Do-7, this retrospective immunohistochemical study of p53 gene overexpression in MPNST found reactivity to be present in 68% and to be significant in degree in 57%. In contrast, although some degree of p53 overexpression was present in 48% of neurofibromas, none stained strongly and only 1 of the 27 (4%), a cellular example, showed significant staining. No difference in the frequency or degree of p53 staining was noted between MPNSTs from patients with or without neurofibromatosis 1. The observed overexpression of the gene product, possibly the reflection of a p53 gene mutation, suggests a role for p53 in the progression of neurofibroma to MPNST. Although the prognostic of p53 overexpression in MPNST remains to be confirmed, in the present series immunopositive tumors were associated with a shorter median patient survival (18 months) than were tumors showing no reactivity (82 months) (P = .02).

Adolescent↗
PubMed2002

Cutaneous lipomatous neurofibroma.

We report a cutaneous lipomatous neurofibroma on the skin of the left-side parietal area of approximately 9 months' duration in a 67-year-old woman. The regular distribution of adipose tissue throughout the lesion suggested that fat was an integral part of the tumor, not a metaplastic or degenerative process. To our knowledge, this type of lesion has not been documented. The main differential diagnosis embraces neurocristic cutaneous hamartoma, lipoma and its variants, cutaneous meningioma, and neural nevus with fat replacement. We propose that lipomatous neurofibroma of the skin is caused by aberrant development of adipose tissue in a neurofibroma. The lesion originated as pluripotential neural crest cells after migration. This acquired lesion could arise from local stem cells. The old suggestion that neuroectoderm is capable of mesenchymal differentiation may be relevant to the histogenesis of this neoplasm.

Adipose Tissue↗
PubMed1986

Neurofibroma of the ear.

Neurofibromas cause unsightly and crippling deformities. These locally destructive tumors arise along the distribution of peripheral and cranial nerves. The 2 patients presented here had neurofibromas of the external ear. In one patient, the lesion was limited to the auricle. In the other, the tumor extended into the facial nerve and parotid gland. Preoperative computed tomographic scanning, a postauricular approach to the tumor, and careful dissection produced an aesthetic debulking of the auricular neurofibromas with preservation of facial nerve function and improvement in hearing.

Child↗
PubMed1990

Large vascular plexiform neurofibroma of scalp: excision and coverage with free tissue transfer.

Diffuse neurofibroma (paraneurofibroma) is an unusual variant of neurofibroma in which the tumor cells diffusely infiltrate beyond the usual well-circumscribed boundary. Histological features of the tumor include both typical and plexiform neurofibroma. Although benign, diffuse vascularity with the possibility of life-threatening hemorrhage dictates treatment. The combination of preoperative angiography, wide surgical excision, and resurfacing the defect with well-vascularized tissue offers one-stage reconstruction and possible cure.

Adult↗
PubMed2006

Single-stage total and near-total resection of massive pediatric head and neck neurofibromas.

Plexiform neurofibromas traditionally have posed a surgical challenge in pediatric patients. Expert preoperative planning, advanced surgical techniques, and vigilant postoperative care results in minimal morbidity and resolution of tumor symptomatology. A retrospective review of four consecutive pediatric patients with massive head and neck neurofibromas who underwent single-stage total or near-total removal of their tumors was performed. All four patients had obstructive airway symptoms. There were two minor complications. All patients had complete relief of their symptoms and return of function without any additional neurologic deficits. It is possible to safely achieve total or near-total removal of extensive plexiform neurofibromas with minimal morbidity while restoring lost function.

Adolescent↗
PubMed1981

Morphological and histochemical studies on the collagen in neurinomas, neurofibromas, and fibromas.

The collagen in neurinomas, neurofibromas was studied by optical and electron microscopy. Neurinomas were shown to be composed mainly of thin argyrophilic, weakly birefringent fibers formed by thin collagen fibrils. Fibromas presented only thick, non-argyrophilic, strongly birefringent fibers composed of thick collagen fibrils. Neurofibromas showed populations of the two above-mentioned types of fibers occupying different areas of their parenchyma. These results suggest that the collagen of neurinomas is mainly of type III, while fibromas present collagen type I, and neurofibromas are composed of both types of collagen.

Collagen↗
PubMed1998

Surgical management of spinal cord compression from plexiform neurofibromas in patients with neurofibromatosis 1.

OBJECTIVE: Plexiform neurofibromas with sizable intraspinal extensions and resultant spinal cord compromise pose challenging management problems, because these lesions may involve multiple nerves and engulf adjacent vascular and visceral structures. In this report, we review our experience with the surgical treatment of these lesions. METHODS: Patients were identified by a detailed review of hospital medical records and the database of our multidisciplinary neurofibromatosis clinic. Ten patients had large plexiform neurofibromas that extended intraspinally, producing a combination of myelopathy and radiculopathy. Two patients exhibited single-level intraspinal growth, and eight showed multilevel involvement. Four patients showed bilateral plexiform neurofibromatous growth intraspinally, with "hourglass" compression of the spinal cord. Operative approaches and outcomes were reviewed in detail. RESULTS: Gross total resection of the symptomatic intraspinal tumor component was achieved for nine patients. The management of the extraspinal component was individualized, depending on the pattern and extent of involvement of the surrounding structures. Nine patients experienced complete recovery of neurological function postoperatively; the remaining patient demonstrated significant functional improvement. With a median follow-up period of 4 years, only one patient has developed recurrent intraspinal compression, in this case from tumor involvement by the same plexiform lesion at a lower spinal level. Two patients treated early in the series using standard laminectomy approaches developed significant kyphotic deformities, necessitating subsequent fusion. Based on these initial results, osteoplastic laminotomy techniques were used in the last five cases, allowing anatomic reconstruction of the involved levels; none of these latter patients has developed significant kyphosis, with a median follow-up period of 3 years. CONCLUSION: Radical resection of intraspinal tumor components in patients with neurofibromatosis 1 and large plexiform neurofibromas can help to preserve excellent neurological function. Technical factors in the management of these lesions are presented.

Adolescent↗
PubMed2004

Unilateral limited laminectomy as the approach of choice for the removal of thoracolumbar neurofibromas.

STUDY DESIGN: The paper reports a minimally invasive approach to the dorsolumbar spine for the removal of neurofibromas. OBJECTIVES: Demonstrating that a limited unilateral approach is the one of choice for this kind of tumors. SUMMARY OF BACKGROUND DATA: Spinal intradural extramedullary tumors are generally removed by single-level or multilevel laminectomy with midline dural incision. Cases of delayed postoperative kyphosis and spinal instability (6%) may be reduced by unilateral microsurgery, causing minimum damage to ligaments and joints. METHODS: Ten patients with dorsolumbar neurofibroma were operated on between June 2000 and June 2002. There were 5 males (all with lumbar) and 5 females (2 with lumbar and 3 with inferior dorsal neurofibromas). One female had 3 lumbar tumors and required two operations. Surgery was performed in the prone position with a unilateral approach, sparing the joint and the ligamentum interspinosum. The dura was opened paramedially and the tumor dissected from the root and removed in one piece when possible. Water-tight dural closure was done with 5-0 or 6-0 stitches. RESULTS: All the patients were mobilized on day 2 and discharged on day 4 or day 5. No complications resulting from the technique were observed. Static and dynamic plain radiograph films showed that none of them had kyphosis and/or instability 6 months postoperatively. Neurologic results were good. CONCLUSIONS: Hospital stay may be reduced and stability may be preserved with an appropriate microsurgical technique. The technique reported in the paper should thus become the one of choice and extended to other spinal intradural extramedullary tumors.

Adult↗
PubMed2005

Dendritic cell neurofibroma with pseudorosettes lacks mutations in exons 1-15 of the neurofibromatosis type 2 gene.

Dendritic cell neurofibroma with pseudorosettes (DCNWPR) is a recently proposed variant of neurofibroma with a distinctive microscopic appearance that is produced by a pseudorosette pattern formed by small, dark, lymphocyte-like cells (Type I cells) arranged concentrically around larger cells, with pale-staining vesicular nuclei and copious faintly eosinophilic cytoplasm (Type II cells). Although DCNWPR appears not to be associated with neurofibromatosis (NF), 1 patient with DCNWPR has been described and suggested to have a form of NF because of multiple skin lesions, with 2 of them being DCNWPR as confirmed histologically. The aim of this study was to find out whether the neurofibromatosis type 2 (NF2) gene is mutated in DCNWPR. Seven histologically proven cases of DCNWPR, from which a substantial amount of archival paraffin-embedded material was available, were selected for this study. Three cases have been previously reported, including the intraneural lesion, and 4 cases were newly identified. There were 3 female and 4 male patients, ranging in age from 30 to 61 years (median, 48 yrs). All patients clinically presented with a small solitary lesion that was clinically diagnosed as fibroma or neurofibroma, and none of the patients had signs of NF. Follow-up was known for 6 patients (range, 1-5 yrs; median, 2.5 yrs) and was uneventful in each case. Microscopically, all lesions fulfilled the criteria for DCNWPR. Exons 1 to 15 of the NF2 gene were amplified by PCR using primers previously published. The amplified fragments were purified and sequenced. The obtained sequences were computer analyzed and compared with the data of the GenBank database. No mutation was identified in 5 analyzed samples from which suitable DNA had been extracted. DCNWPR appears to have no mutation in exons 1-15 of the NF2 gene. Given the relatively small number of cases studied, it seems premature to declare that a mutation of the NF2 gene is not involved in DCNWPR, as the possibility cannot be excluded that mutations were present but remained undetected because they occurred in exons that were not examined.

Adult↗