Disease relevance of Neurofibromatosis 1

• Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene [1].
• Type 1 neurofibromatosis (NF1), Watson syndrome (WS), and Noonan syndrome (NS) show some overlap in clinical manifestations [2].
• Skin manifestations are less common than in neurofibromatosis type 1 (NF1; von Recklinghausen disease) [3].
• Plexiform neurofibromas in this area have been described in children with von Recklinghausen's disease or neurofibromatosis 1 (NF 1) [4].
• Malignant peripheral nerve sheath tumors (MPNSTs) are highly aggressive Schwann cell neoplasms that are frequently associated with Type I Neurofibromatosis (NF1) and respond poorly to current therapeutic regimens [5].

High impact information on Neurofibromatosis 1

• Phaeochromocytomas usually occur sporadically but may also be a feature of three autosomal dominantly inherited cancer syndromes, multiple endocrine neoplasia type 2, von Hippel-Lindau disease (VHL), and, very rarely, type 1 neurofibromatosis [6].
• Acute promyelocytic leukemia after treatment of malignant glioma in a patient with von Recklinghausen's disease: case report and review of the literature [7].
• Sequential development of Wilms tumor, T-cell acute lymphoblastic leukemia, medulloblastoma and myeloid leukemia in a child with type 1 neurofibromatosis: a clinical and cytogenetic case report [8].
• Growth hormone in von Recklinghausen's disease: reckless or recommended [9]?
• 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 [10].

Chemical compound and disease context of Neurofibromatosis 1

• Multivariate Cox analysis of our series showed that the association of von Recklinghausen's disease, tumour depth, and the presence of rhabdomyoblasts (malignant triton tumour) each had an independent negative impact on overall survival [11].
• Letter: Muscle relaxant requirements in patients with von Recklinghausen's disease [12].
• Hypersensitivity to pancuronium in a patient with von Recklinghausen's disease [13].
• Galactose metabolism and reproductive history in women with type 1 neurofibromatosis [14].
• It is concluded that atracurium offers advantages over the other nondepolarizing muscle relaxants in patients with von Recklinghausen's disease [15].

Biological context of Neurofibromatosis 1

• Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1) [16].
• The GTPase activating proteins Ras GAP and the neurofibromatosis-type 1 (NF1) gene product have been implicated as both potential mediators and regulators of the mitogenic effects of the ras proteins [17].
• In 236 families with type 1 neurofibromatosis (NF-1) evaluated through the USF Regional Genetics Program between January 1982 and September 1993, four patients had clitoral involvement [18].
• Capacitative calcium entry and calcium wave propagation were studied in keratinocytes from healthy volunteers and patients with type 1 neurofibromatosis (NF1) in calcium-depleted and in low calcium culture medium [19].
• Two separate triton tumor specimens from one patient and a MPNST specimen from another patient, both with peripheral neurofibromatosis (NF-1, von Recklinghausen disease), showed complex near-triploid complements and partial deletion of the short arm of chromosome 1 [20].

Anatomical context of Neurofibromatosis 1

• Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders [21].
• Keratinocytes cultured from patients with type 1 neurofibromatosis (NF1) had a tendency to form cultures with markedly altered calcium-related signaling characteristics [22].
• Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest [23].
• Expression of CD117 in a malignant peripheral nerve sheath tumour arising in a patient with type 1 neurofibromatosis [24].
• Malignant schwannoma in a case of type 1 neurofibromatosis with decreased immunoreactivity of smooth muscle alpha-actin in tumor vessels [25].

Gene context of Neurofibromatosis 1

• Phaeochromocytomas may occur sporadically, or as part of the inherited cancer syndromes multiple endocrine neoplasia (MEN) type 2, von Hippel-Lindau disease (VHL), and, rarely, in type 1 neurofibromatosis [26].
• BRCA1-related malignancies in a family presenting with von Recklinghausen's disease [27].
• BACKGROUND: NF1 refers to type 1 neurofibromatosis syndrome, which has been linked with mutations of the large NF1 gene [28].
• GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype [29].
• Included in this appraisal is a search for a pre-disposition syndrome, the most common of which are neurofibromatosis-1 and -2 (NF1, NF2) and schwannomatosis, which may require life-long careful follow up [30].

Analytical, diagnostic and therapeutic context of Neurofibromatosis 1

• The bicolor damselfish is affected by a disease termed damselfish neurofibromatosis (DNF), being developed as an animal model of neurofibromatosis-type 1 (NF1) in humans [31].

References