Identification of NF1 mutations in both alleles of a dermal neurofibroma

Sawada, Shuichi; Florell, Scott R.; Purandare, Smita M.; Ota, Masaho; Stephens, Karen; Viskochil, David

doi:10.1038/ng0996-110

Cited by 162 publications

(109 citation statements)

References 23 publications

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“…Consistent with Kudson's "two hit" model of tumorigenesis, the deletions of the germline and the presence of somatic punctiform mutations in the gene NF1 cause inactivity of both copies of the gene [19] and loss of its "tumor soppressor" function. This leads NF1 individuals to develop a variety of malignancies as well as benign tumors [20].…”

Section: Genetic and Tumorigenesismentioning

confidence: 61%

The Neurofibromatosis type 1:A dominantly inherited tumors-predisposing disorder

et al. 2009

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AbstractNeurofibromatosis type I (NF1) is a hereditary multisystem disease involving the skin and nervous system. It is the most common form of autosomal dominant phakomatoses with 100% penetrance but wide phenotypic variability. The NF1 gene is located on chromosome 17q11.2 and encodes for a tumour suppressor protein. Because affected individuals have an increased risk of tumor formation, this disorder is classified as inherited cancer syndrome. The risk of malignancies in NF1 affected patients is estimated to be 5–15% higher than in the general population. We reviewed clinical aspects and genetic mechanisms of tumorigenesis in NF1 affected patients.

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Section: Genetic and Tumorigenesismentioning

confidence: 61%

The Neurofibromatosis type 1:A dominantly inherited tumors-predisposing disorder

et al. 2009

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“…Loss of heterozygosity (LOH) at the NF1 locus has been identified in pheochromocytomas (Xu et al 1992), neurofibrosarcomas (Legius et al 1993), and myeloid leukemias (Side et al 1997). However, only a small percentage of benign neurofibromas, the hallmark feature of NF1, exhibit NF1 LOH (Colman et al 1995;Sawada et al 1996). This may in part be caused by the heterogeneous nature of neurofibromas, which are composed of Schwann cells, neurons, fibroblasts, and perineurial cells (Peltonen et al 1988).…”

mentioning

confidence: 99%

Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain

Zhu¹,

Romero²,

Ghosh³

et al. 2001

Genes Dev.

545

557

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Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder that affects growth properties of neural-crest-derived cell populations. In addition, approximately one-half of NF1 patients exhibit learning disabilities. To characterize NF1 function both in vitro and in vivo, we circumvent the embryonic lethality of NF1 null mouse embryos by generating a conditional mutation in the NF1 gene using Cre/loxP technology. Introduction of a Synapsin I promoter driven Cre transgenic mouse strain into the conditional NF1 background has ablated NF1 function in most differentiated neuronal populations. These mice have abnormal development of the cerebral cortex, which suggests that NF1 has an indispensable role in this aspect of CNS development. Furthermore, although they are tumor free, these mice display extensive astrogliosis in the absence of conspicuous neurodegeneration or microgliosis. These results indicate that NF1-deficient neurons are capable of inducing reactive astrogliosis via a non-cell autonomous mechanism.

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“…Some of these variations can reflect different mutations in NF1, while others might be associated with environmental or other external factors [15]. However, genetic evaluations of the association between NF1 and HPP have never been reported; thus, to ascertain the mechanism of this association further, new studies are necessary.…”

Section: Discussionmentioning

confidence: 99%

Spontaneous Remission of Primary Hyperparathyroidism in a Patient with Neurofibromatosis Type 1: Case Report

MM¹

2012

J Clin Case Rep

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Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem disorder affecting approximately 1 in 3500 individuals. Patients with the disorder can develop carcinoid tumors, medullary thyroid carcinoma, pheochromocytoma and tumor of the hypothalamus. The association of NF1 with Primary Hyperparathyroidism (HPP) is very rare. We report a 56-year-old woman with NF1 who was referred to our service because of nephrolithiasis. Physical examination revealed the characteristic signs of NF1, and her laboratory calcium profile was compatible with HPP. The patient was referred for parathyroidectomy, but during the surgical work-up she underwent spontaneous remission of her HPP. This case is significant not only for the rarity of this presentation in NF1 patients, but also because of the spontaneous remission of HPP.

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Identification of NF1 mutations in both alleles of a dermal neurofibroma

Cited by 162 publications

References 23 publications

The Neurofibromatosis type 1:A dominantly inherited tumors-predisposing disorder

The Neurofibromatosis type 1:A dominantly inherited tumors-predisposing disorder

Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain

Spontaneous Remission of Primary Hyperparathyroidism in a Patient with Neurofibromatosis Type 1: Case Report

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