Imagerie de la neurofibromatose de type 1

Jacques, Crawford; Dietemann, Jean-Louis

doi:10.1016/s0150-9861(05)83136-0

Cited by 40 publications

(22 citation statements)

References 24 publications

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“…Individuals with NF1 have a high incidence of both malignant and non-malignant complications [3], [4]. Clinical studies have reported that NF1 patients are at a significant risk for both generalized osteoporotic abnormalities [5], [6], [7] and focal skeletal abnormalities including dystrophic kyphoscoliosis and pseudarthrosis [8], [9]. NF1 patients have an increased prevalence of osteoporosis beginning from childhood and adolescence [10], [11], [12], leading to greater risk of fracture later in life [13].…”

Section: Introductionmentioning

confidence: 99%

c-Fms Signaling Mediates Neurofibromatosis Type-1 Osteoclast Gain-In-Functions

Rhodes

Chen

et al. 2012

PLoS ONE

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Skeletal abnormalities including osteoporosis and osteopenia occur frequently in both pediatric and adult neurofibromatosis type 1 (NF1) patients. NF1 (Nf1) haploinsufficient osteoclasts and osteoclast progenitors derived from both NF1 patients and Nf1+/− mice exhibit increased differentiation, migration, and bone resorptive capacity in vitro, mediated by hyperactivation of p21Ras in response to limiting concentrations of macrophage-colony stimulating factor (M-CSF). Here, we show that M-CSF binding to its receptor, c-Fms, results in increased c-Fms activation in Nf1+/ − osteoclast progenitors, mediating multiple gain-in-functions through the downstream effectors Erk1/2 and p90RSK. PLX3397, a potent and selective c-Fms inhibitor, attenuated M-CSF mediated Nf1+/− osteoclast migration by 50%, adhesion by 70%, and pit formation by 60%. In vivo, we administered PLX3397 to Nf1 +/− osteoporotic mice induced by ovariectomy (OVX) and evaluated changes in bone mass and skeletal architecture. We found that PLX3397 prevented bone loss in Nf1+/−-OVX mice by reducing osteoclast differentiation and bone resorptive activity in vivo. Collectively, these results implicate the M-CSF/c-Fms signaling axis as a critical pathway underlying the aberrant functioning of Nf1 haploinsufficient osteoclasts and may provide a potential therapeutic target for treating NF1 associated osteoporosis and osteopenia.

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Section: Introductionmentioning

confidence: 99%

c-Fms Signaling Mediates Neurofibromatosis Type-1 Osteoclast Gain-In-Functions

Rhodes

Chen

et al. 2012

PLoS ONE

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“…With a worldwide incidence of approximately one case in 2500 to 3000 in the general population, type 1 neurofibromatosis is the most common neurocutaneous syndrome (55). This syndrome has a wide variety of intracranial manifestations, including hypothalamic-optic nerve and brainstem pilocytic astrocytomas; neurofibromas; neurofibrosarcomas; plexiform neurofibromas; hydrocephalus; arachnoid cysts; cerebrovascular occlusions; nontumorous highsignal-intensity foci or unidentified bright objects that occur predominantly in the basal ganglia and posterior fossa on T2-weighted images; and highsignal-intensity lesions, distinct from unidentified bright objects, that most commonly appear in the basal ganglia on T1-weighted images (56)(57)(58). These T1-hyperintense basal ganglia lesions occur in approximately 20% of patients with type 1 neurofibromatosis (57,58) and predominantly involve the globus pallidus and internal capsules bilaterally and symmetrically (Fig 18).…”

Section: Other Lesions Type 1 Neurofibromatosismentioning

confidence: 99%

Intracranial Lesions with High Signal Intensity on T1-weighted MR Images: Differential Diagnosis

Ginat¹,

Meyers²

2012

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Various substances, including methemoglobin, melanin, lipid, protein, calcium, iron, copper, and manganese, are responsible for the intrinsically high signal intensity observed in intracranial lesions at T1-weighted magnetic resonance (MR) imaging. Many of these substances have physical properties that lead to other specific imaging features as well. For example, lipid-containing lesions frequently produce chemical shift artifact, and some melanin-containing lesions exhibit a combination of high signal intensity on T1-weighted images and low signal intensity on T2-weighted images. The location and extent of a region of abnormal signal hyperintensity may be helpful for identifying rare diseases such as an ectopic posterior pituitary gland near the floor of the third ventricle, bilateral involvement of the dentate and lentiform nuclei in Cockayne syndrome, and involvement of the anterior temporal lobe and cerebellum in neurocutaneous melanosis. In cases in which diagnostically specific T1-weighted imaging features are lacking, findings obtained with other MR pulse sequences and other modalities can help narrow the differential diagnosis: An elevated glutamine or glutamate level at MR spectroscopy is suggestive of hepatic encephalopathy; a popcorn ball-like appearance at T2-weighted imaging, of cavernous malformations; and hyperattenuation at computed tomography, of mineral deposition disease. In many cases, a comparison of imaging features with clinical measures enables a specific diagnosis.

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“…Par ailleurs, 50 % des patients avec des neurofibrosarcomes ont une NF1 [36,37]. Une biopsie des neurofibromes est indiquée devant la suspicion clinique de transformation maligne, même en l'absence de signes de malignité à l'IRM [38]. La biopsie chirurgicale est peu fiable avec un taux de 18 % de faux-négatifs.…”

Section: Figureunclassified