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PubMed2005

Role for the epidermal growth factor receptor in neurofibromatosis-related peripheral nerve tumorigenesis.

Benign neurofibromas and malignant peripheral nerve sheath tumors are serious complications of neurofibromatosis type 1. The epidermal growth factor receptor is not expressed by normal Schwann cells, yet is overexpressed in subpopulations of Nf1 mutant Schwann cells. We evaluated the role of EGFR in Schwann cell tumorigenesis. Expression of EGFR in transgenic mouse Schwann cells elicited features of neurofibromas: Schwann cell hyperplasia, excess collagen, mast cell accumulation, and progressive dissociation of non-myelin-forming Schwann cells from axons. Mating EGFR transgenic mice to Nf1 hemizygotes did not enhance this phenotype. Genetic reduction of EGFR in Nf1(+/-);p53(+/-) mice that develop sarcomas significantly improved survival. Thus, gain- and loss-of-function experiments support the relevance of EGFR to peripheral nerve tumor formation.

2',3'-Cyclic-Nucleotide Phosphodiesterases↗
PubMed2005

Cervical dumbbell meningioma and thoracic dumbbell schwannoma in a patient with neurofibromatosis.

The occurrence of both dumbbell meningioma and dumbbell schwannoma in one patient has not been reported in the literature. We present a 16-year-old female patient, who had progressive bilateral hearing impairment for 5 years and a progressively enlarged, non-tender neck mass for 1.5 years. Mild motor weakness over her right upper limb was noted 1 week before admission. No café-au-lait spot was noted. Magnetic resonance imaging (MRI) revealed bilateral cerebellopontine angle tumors, a C1-2 dumbbell tumor, and a T5-6 dumbbell tumor. Neurofibromatosis type 2 was diagnosed. The cervical spine and thoracic spine tumors were removed via one-staged combined posterior (laminectomy) and antero-lateral (transforaminal or thoracoscopic) approaches during two operations performed 1 month apart. The pathology revealed meningioma and schwannoma, respectively. The patient had good recovery after these two operations and her motor function improved. Six months after the second surgery, radiosurgery was performed for the bilateral acoustic tumors, because of enlarged tumor size on follow-up MRI. To the best of our knowledge, this is the first case reported in the literature of a patient, having both dumbbell meningioma and dumbbell schwannoma. A literature review of the dumbbell tumors was done, and their treatment strategies were discussed.

Adolescent↗
PubMedDate not supplied

Color duplex ultrasonography in detecting renal artery abnormalities in a patient with neurofibromatosis 1: a case report.

Neurofibromatosis type 1 (NF1) is a rare disease; it involves not only the nervous system, but also both large and small arteries. Common vascular complications of NF1 include arterial stenosis, aneurysms, and arteriovenous fistulas involving the abdominal aorta and its branches. A coexisting left renal artery stenosis and aneurysm in a pediatric patient with NF1 was initially detected by color duplex ultrasonography in our institute.

Aneurysm↗
PubMed2004

Automated detection and volume measurement of plexiform neurofibromas in neurofibromatosis 1 using magnetic resonance imaging.

An automated technique for segmentation and volumetric measurement of plexiform neurofibromas (PN) in neurofibromatosis 1 using short T1-inversion recovery magnetic resonance images is presented. The algorithm described implements heuristics derived from human-based recognition of lesions. This technique combines region-based with boundary-based segmentation. Two observers, who performed semi-automated volume calculations and manual tracings to estimate tumor volume, validated this method on 9 PNs of different size and location. This automated method was reproducible (coefficient of variation 0.6-5.6%), yielded similar results to manual tumor tracings (R = 0.999) and will likely improve the ability to measure PNs in ongoing clinical trials.

Algorithms↗
PubMed2004

Assessment of vertebral scalloping in neurofibromatosis type 1 with plain radiography and MRI.

AIM: To evaluate vertebral scalloping in patients with neurofibromatosis type 1 (NF-1) and spinal deformity using plain radiographs and magnetic resonance imaging (MRI), and to determine the possible aetiological association with neurofibromas, dural ectasia and lateral meningocoeles. MATERIAL AND METHODS: Nineteen patients with NF-1, who had full spine radiographs and whole-spine MRI, were retrospectively reviewed. Dystrophic features and their relationship to the curve were recorded from radiographs. A comparison was then made between the dystrophic features evident on radiographs and adjacent soft-tissue abnormalities identified on MRI. RESULTS: Dystrophic changes were documented in 16 patients on plain radiographs and in all patients on MRI. Rib pencilling was the most common finding on radiographs. In 80% of the cases with scoliosis, scalloping was seen on the concavity of the curvature. In all patients with kyphoscoliosis, scalloping was contiguous to the apex of kyphosis. Twenty-four areas of scalloping were identified on MRI. Scalloping usually developed in the concavity of the scoliotic curve or at levels unrelated to the curve. Scalloping was evident in combination with dural ectasia or neurofibroma in 15 cases. The presence of dural ectasia was confirmed in 75% of the cases of posterior scalloping and in 25% of those of lateral scalloping. The presence of neurofibromas was recognized in 25% of the cases of anterior or lateral scalloping. Dural ectasia was identified in two patients without associated scalloping. Lateral meningocoeles were not related to the development of scalloping. CONCLUSION: Whereas posterior scalloping was commonly associated with dural ectasia, anterior and lateral scalloping were commonly the result of primary mesodermal dysplasia.

Adolescent↗
PubMed2005

The soft-tissue manifestations of neurofibromatosis type 1.

The radiological appearances of neurofibromatosis type 1 (NF-1) are numerous and variable, because of the widespread presence of peripheral nerves. Knowledge of this variability can prevent unnecessary intervention. For example, occasionally lesions can be misinterpreted and biopsies performed unnecessarily. Thus, familiarity with the manifestations of this disease and the spectrum of associated abnormalities is an important part of the radiologist's armamentarium. This paper explores the manifold radiological appearances of extracranial NF-1 as experienced by the Sarcoma and Soft Tissue Tumour Unit at the Royal Marsden Hospital.

Humans↗
PubMed2004

Methylation analysis of the neurofibromatosis type 1 (NF1) promoter in peripheral nerve sheath tumours.

Peripheral nerve sheath tumours are hallmarks of neurofibromatosis type 1 (NF1). Development of plexiform neurofibromas to malignant peripheral nerve sheath tumours (MPNST) is common. The NF1 gene promoter harbours a hypomethylated CpG island. Thus, methylation changes may be involved in the development of different types of neurofibromas and malignant transformation. We investigated NF1-associated dermal (n=9) and plexiform neurofibromas (n=7), MPNST (n=5) and non-NF1 leucocyte samples (n=20) for their methylation pattern by bisulphite genomic sequencing. We could not find global hypermethylation in the NF1 promoter in our series. Nevertheless, site-specific methylation, involving transcription factor binding sites for SP1, CRE (-10), and AP-2, was observed. One region of the 5'-UTR (untranslated region) overlapping with a putative AP-2 binding site was methylated at 30-100% in 4/20 control samples. In conclusion, we did not find hypermethylation in NF1-associated tumours. Instead, low level methylation could parallel a global genomic hypomethylation in malignancy.

Antioxidants↗
PubMed2005

Neurofibromatosis type 1: diffusion weighted imaging findings of brain.

PURPOSE: The purposes of this study were to evaluate the differences in apparent diffusion coefficient (ADC) values between infra and supratentorial unidentified bright objects (UBOs), between UBOs and normal appearing side (NAS, contralateral regions of the UBOs and/or normal appearing region without UBOs) in the neurofibromatosis type 1 patients (NF1) and control group and also to investigate correlation between age and ADC values. METHODS: A total of 30 patients and 26 healthy controls were included. The MRI examination consisted of routine imaging and diffusion weighted imaging (DWI). Seven distinct locations (frontal, parieto-occipital and cerebellar white matter, globus pallidum, thalamus, hippocampus, and midbrain) were selected for the analysis. The ADC values were calculated directly from these automatically generated ADC maps with ROI. RESULTS: The ADC values of UBOs were significantly increased in cerebellar white matter, hippocampus, globus pallidum, midbrain, and thalamus when compared with NAS and control group. There were statistically significant differences between NAS and control group in the ADC values obtained from hippocampus and thalamus. There were statistically significant differences between supra and infratentorial UBOs in ADC values. There was a negative correlation between age and the ADC values obtained from normal appearing midbrain, hippocampus, thalamus, and globus pallidum. CONCLUSION: ADC values both in UBOs and in the normal appearing locations as hippocampus and thalamus were detected to be higher in the patients with NF1. The detection of lesions might be independent of MRI appearance in NF1, i.e. although the brain is affected, MRI appearance may be normal. Therefore, DWI and ADC values should also be utilized in the delineation of brain involvement of NF1 patients.

Adolescent↗
PubMed2005

Early cardiac morphologic and functional changes in neurofibromatosis type 1 hypertensives: an echocardiographic and tissue Doppler study.

BACKGROUND: Hypertension is frequently associated with neurofibromatosis type 1 (NF1), a common inherited disease that limits life expectancy. No data are available on cardiac damage in NF1 patients with hypertension. We evaluated cardiac function in NF1 patients with hypertension diagnosed by 24-h ambulatory blood pressure monitoring (ABPM), compared with normal children. METHODS: We studied 73 NF1 patients (41 boys; mean age 12 years) and 30 normal children comparable for age and sex, using standard 2D echocardiography, standard Doppler and Doppler tissue imaging (DTI). Twelve patients (16%) showed 24-h systolic blood pressure (SBP) or 24-h diastolic blood pressure (DBP) >95th percentile for age and sex. We divided the NF1 group into two subgroups: group A, patients with 24-h SBP and DBP </=95th percentile for age and sex, and group B, patients with 24-h SBP or DBP >95th percentile for age and sex. RESULTS: Group B presented a thicker end-diastolic interventricular septum (p<0.0001), posterior wall (p=0.02), LVMI (p<0.001) and relative wall thickness (p<0.03) than group A and controls. Left atrial dimension in group B was also significantly larger. Examination by standard Doppler showed a deceleration and isovolumic relaxation time significantly prolonged in group B. DTI parameters were significantly higher in NF1 patients than controls. In group B, myocardial early diastolic (E(m)) and systolic (S(m)) velocities were significantly lower than group A. Myocardial early/late diastolic ratio (E(m)/A(m)) in NF1 patients was lower than controls and 19% of group A and 20% of group B showed an E(m)/A(m) ratio <1. No healthy subjects presented an E(m)/A(m) ratio <1. CONCLUSIONS: We demonstrated early cardiac morphologic and functional changes in young NF1 patients with hypertension. Because DTI directly studies cardiac muscle, it can detect changes induced by hypertension as well as those independent of blood pressure.

Adolescent↗
PubMed2005

Association of aortic arch anomalies and subclavian artery supply disruption with neurofibromatosis.

We report an 8-year-old Japanese girl with von Recklinghausen disease, who presented with aortic arch anomalies and left hemilateral oculo-otolaryngeal abnormalities including strabismus, blepharoptosis, a dysplastic external ear and hearing loss. The aortic arch anomalies including subclavian artery obstruction that appeared to be a consequence of the neurofibromatosis, and the hemilateral oculo-otolaryngeal abnormalities could be explained by disruption of the subclavian artery supply during embryogenesis.

Abnormalities, Multiple↗
PubMed2005

Epidural anesthesia in a parturient with neurofibromatosis type 2 undergoing cesarean section.

Neurofibromatosis type 2 (NF2) is a rare condition only recently recognized. We present a case describing successful regional analgesia in a parturient with NF2 after thorough imaging revealed no tumors within the epidural space. The presence of tumors within the spinal cord and nerve roots and their potential enlargement during pregnancy make routine neuraxial anesthesia hazardous in patients with NF2. Lumbosacral imaging before performing regional anesthesia is recommended.

Adult↗
PubMed2006

Can screening for optic nerve gliomas in patients with neurofibromatosis type I be performed with visual-evoked potential testing?

BACKGROUND: Screening for optic nerve gliomas (ONGs) in children with neurofibromatosis type 1 (NF1) is problematic. Visual acuity (VA) can be unreliable in children. Magnetic resonance imaging is the most sensitive test for ONG, but it is expensive. This study was designed to determine whether visual-evoked potential testing (VEP) is a sensitive and cost-effective screening test for ONG in NF1 in children. METHODS: We undertook a retrospective review of patients with NF1 at a tertiary care eye center that were born between 1983 and 2003. VA was considered abnormal if 20/40 or worse or more than 2 lines difference between eyes. VEP was abnormal if the P100 was >108 ms (ms) or the interocular difference was greater than 5.0 ms. RESULTS: Of 297 patients found with NF1, 144 were children and 30 had VEP and MRI. Of those, 14 had ONG and 16 did not. The average P100 of the VEP was 110.5 ms in patients with ONG compared with 103.1 ms (p = 0.004) in those without ONG. VEP was 86% sensitive and 75% specific in detecting ONG. VA was 50% sensitive and 50% specific. Six patients with ONG had normal vision and abnormal VEP. Two subjects had initial abnormal VEP but normal MRI and showed ONG on follow-up imaging. One subject with ONG had a normal VEP initially but subsequent VEP was abnormal. CONCLUSION: Using serial VEPs, the sensitivity is 93%. Cost of VEP and MRI is $150 and $1750, respectively. VEP is a sensitive and cost-effective screening test for ONG in NF1. VEP may assist in earlier diagnoses of ONG, especially in children with equivocal or difficult ophthalmic examinations.

Child↗
PubMed2006

Orbital optic nerve gliomas in children with neurofibromatosis type 1.

PURPOSE: To describe the clinical course and treatment of symptomatic orbital optic nerve gliomas in children with neurofibromatosis type-1 (NF-1). METHODS: A retrospective review of the records of patients with NF-1 and symptomatic orbital optic nerve gliomas seen in a large multidisciplinary NF-1 clinic of a tertiary care children's hospital. The main outcome measures included presenting symptoms and signs, ophthalmologic examination at diagnosis, the presence of progressive disease following diagnosis, type of therapy, and the reasons therapy was instituted. RESULTS: Twelve patients with symptomatic orbital optic nerve gliomas, all of which led to proptosis (eight girls, four boys), were identified. The mean age of diagnosis of NF-1 was 20 months; the mean age of diagnosis of the orbital optic nerve glioma was 26 months. At the time of diagnosis of the tumor, 10 of 12 patients (83%) had decreased visual acuity in the affected eye. Three patients underwent optic nerve resection; eight received chemotherapy, and one was observed without therapy. Of the eight children who received chemotherapy, progressive disease prior to treatment could be documented in only three; none of these eight children had a reproducible improvement in vision following chemotherapy. There was no demonstrable improvement in vision in any treated patient with NF-1-associated orbital optic nerve gliomas. CONCLUSIONS: Although not definitively proven, our data and previous studies suggest that NF-1-associated orbital optic nerve gliomas should not be treated unless there is clear evidence of either ophthalmologic or radiographic progression. Surgical excision of tumors which have led to proptotic eyes without functional vision should be reserved for cosmetic purposes or to treat complications of exposed globes.

Child, Preschool↗
PubMed2004

Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1.

PURPOSE: To examine the relationship between adolescents' families' perception of the severity of neurofibromatosis (NF1) and the clinical severity of NF1, a genetic condition with variable manifestations. METHODS: The Perception of Severity of Chronic Illness (PSCI) questionnaire was administered to 56 parents of 47 adolescents with NF1. Each participant was asked one open-ended question regarding the challenges of living with NF1. Scores assessing the clinical severity of NF1 were assigned by health care providers in the NF Clinic. Correlation coefficients and paired t-test were used to evaluate the relationship between the clinical severity and the families' perceptions. Qualitative data were reviewed and grouped into themes. RESULTS: Parental perceptions were correlated with the degree of medical (r = 0.3116, p <.05), cognitive (r = 0.4911, p <.0001), and behavioral (r = 0.3341, p <.05) impairment of the adolescent. Adolescent perception was correlated with the degree of cognitive impairment (r = 0.5429, p <.0001). Parental and adolescent perceptions were correlated (r = 0.6724, p <.0001); however, adolescents viewed the condition's impact as being less than their parents (p <.001). The qualitative data provide additional insight into the concerns of these families. CONCLUSIONS: Families dealing with more medical, cognitive, and behavioral complications of NF1 perceive the impact of the condition on daily life as being greater than those families with fewer complications. The quantitative and qualitative results of this study have several implications for the clinical care of adolescents with NF1 and their families.

Adolescent↗
PubMed2026

Screening for neurofibromatosis type 1-related optic pathway gliomas: a systematic review.

BACKGROUND: Neurofibromatosis-type 1 (NF1) is a genetic disorder characterized by developing optic pathway gliomas (OPGs) in 15%-20% of patients with higher estimates where consanguinity is prevalent. Clinically, NF1-OPG might be unpredictable with the risk of OPG progression and visual impairment. The optimal time for screening is controversial. We aim to identify the mean/median age at diagnosis of NF1-OPG and its clinical spectrum. METHODS: A systematic review of PubMed, Web of Science, and Embase databases was conducted for English-language publications from January 1993 to October 2025, exploring the visual screening of OPGs in NF1 patients, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and registered in the Prospective Register of Systematic Reviews (PROSPERO ID: CRD420251036244). Inclusion criteria focused on studies reporting the age at OPG diagnosis and visual manifestations in NF1 patients. Data were extracted on demographics, age at NF1 and OPG diagnosis, tumour location (using the Dodge classification), and presenting symptoms. Sixteen studies met the inclusion criteria. RESULTS: Among 4 739 NF1 patients, 818 had OPGs, with prevalence ranging from 4.2% to 46.7%. The age at NF1 diagnosis ranged from 0 to 132 months (mean: 18-38 months), and at OPG diagnosis from 0-240 months (median: 29-58 months). Approximately 58.4% of OPGs were asymptomatic, and 25% were above the age of 5 years. Among symptomatic patients, the most frequent presentations included decreased visual acuity (62%), abnormal optic disc (45%), proptosis (20%), strabismus (12%), and visual field defects (7%). CONCLUSIONS: NF1-related OPGs typically present early within 6 years of age. Early ophthalmologic and/or radiologic screening at the time of NF1 diagnosis enhances the detection of silent OPGs.

Humans↗
PubMed2006

Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke.

Vascular lesions are infrequently recognized as manifestations of neurofibromatosis 1 (NF1), but they can produce serious complications and contribute to mortality at younger ages. Here we report the case of a young female patient with NF1 who suffered from a fatal middle cerebral artery (MCA) infarct. In addition to the MCA infarct, head MRI also disclosed old infarcts at bilateral cerebella and multiple intracranial arterial steno-occlusions. Stroke related to NF1 cerebral vasculopathy was highly suggested after other diseases were excluded. Additionally, genetic analysis of the patient identified a novel mutation at the splicing donor site, c. 2,409+2T>G that resulted in a splicing aberration.

Adult↗
PubMed2004

Glioneuronal tumours in neurofibromatosis type 1: MRI-pathological study.

Neurofibromatosis type 1 (NF1) is an inherited disorder in which affected individuals develop both benign and malignant tumours at an increased frequency. Glioneuronal tumours, such as ganglioglioma and dysembryoplastic neuroepithelial tumour, have been previously reported in patients with NF1. We describe two patients with glioneuronal tumours and typical clinical features of NF1. Molecular analysis of these tumours did not demonstrate loss of the NF1 gene by fluorescence in situ hybridization (FISH) or immunohistochemistry analysis, suggesting they might not be causally associated with gross defects in NF1 expression. Because of the excellent prognosis following the resection of these tumours, it is important to distinguish them from other NF1-associated tumours.

Adult↗