Clinical and genetic aspects of neurofibromatosis 1

Jett, Kimberly; Friedman, Jan M.

doi:10.1097/gim.0b013e3181bf15e3

Cited by 410 publications

(419 citation statements)

References 216 publications

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“…The percentage of major clinical phenotypes is in accordance to previous reports (Tonsgard 2006; Jett and Friedman 2010). When patients under 12 years of age were excluded, the incidence of neurofibromas and LNs decreased (Huson 2008).…”

Section: Resultssupporting

confidence: 92%

“…The most common features of NF1 are pigmentary abnormalities such as café‐au‐lait macules (CALs) and skinfold freckling, Lisch nodules (LNs), cutaneous and plexiform neurofibromas (PNs), optic gliomas, and bone lesions. These symptoms are age‐dependent (with a full clinical manifestation typically by 12 years of age) and present high variability in expressivity, even among affected members of the same family (Jett and Friedman 2010). …”

Section: Introductionmentioning

confidence: 99%

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126 novel mutations in Italian patients with neurofibromatosis type 1

Bianchessi¹,

Morosini²,

Saletti³

et al. 2015

Molec Gen & Gen Med

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Genetic analysis of Neurofibromatosis type 1 (NF1) may facilitate the identification of patients in early phases of the disease. Here, we present an overview of our diagnostic research spanning the last 11 years, with a focus on the description of 225 NF1 mutations, 126 of which are novel, found in a series of 607 patients (513 unrelated) in Italy. Between 2003 and 2013, 443 unrelated patients were profiled by denaturing high pressure liquid chromatography (DHPLC) analysis of 60 amplicons derived from genomic NF1 DNA and subsequent sequencing of heterozygotic PCR products. In addition, a subset of patients was studied by multiplex ligation‐dependent probe amplification (MLPA) to identify any duplications, large deletions or microdeletions present at the locus. Over the last year, 70 unrelated patients were investigated by MLPA and sequencing of 22 amplicons spanning the entire NF1 cDNA. Mutations were found in 70% of the 293 patients studied by DHPLC, thereby fulfilling the NIH criterion for the clinical diagnosis of NF1 (detection rate: 70%); furthermore, 87% of the patients studied by RNA sequencing were genetically characterized. Mutations were also found in 36 of the 159 patients not fulfilling the NIH clinical criteria. We confirmed a higher incidence of intellectual disability in patients harboring microdeletion type 1 and observed a correlation between a mild phenotype and the small deletion c.2970_2972delAAT or the missense alteration in amino acid residue 1809 (p.Arg1809Cys). These data support the use of RNA‐based methods for genetic analysis and provide novel information for improving the management of symptoms in oligosymptomatic patients.

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Section: Resultssupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

126 novel mutations in Italian patients with neurofibromatosis type 1

Bianchessi¹,

Morosini²,

Saletti³

et al. 2015

Molec Gen & Gen Med

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“…NF1 is also one of the most common cancer predisposing disorders with a prevalence of 1 in 3000 1. The development of malignancies is a major cause of morbidity and mortality in NF1.…”

Section: Introductionmentioning

confidence: 99%

Synchronous neuroendocrine tumor and non‐small‐cell lung cancer in neurofibromatosis type 1

Hsu

Han

2015

Clinical Case Reports

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“…Coronal (a, b) and axial (c, d) enhanced T1-weighted (a, c) and T2-weighted (b, d) MR images showed the presence of a pontine-based infiltrative lesion (arrows), which presented inhomogenous signal intensity on both T1-weighted and T2-weighted images for the coexistence of isointense and hyperintense areas. These MRI findings were suggestive of a BSG gliomas [1,2]. NF1-associated BSGs are less common than NF1-associated optic gliomas (OGs) and seem to represent a particular entity which tend, as a whole, to have a more favorable prognosis and a more indolent course than BSGs in patients without NF1 [3][4][5]; nevertheless, some NF1-associted BSG may rapidly progress [4].…”

mentioning

confidence: 99%

“…NF-1 is an autosomal dominant disorder characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules [1]. NF-1 is also characterized by low-grade tumors of the central and peripheral nervous system.…”

mentioning

confidence: 99%

Usefulness of 18F-FDG-PET/CT in Evaluating a Brainstem Glioma in an Adult Patient with Neurofibromatosis Type 1

Treglia

Muoio

Ciello

et al. 2013

Nucl Med Mol Imaging

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We describe a case of a brainstem glioma (BSG) occurred in an adult patient with neurofibromatosis type 1 (NF1) and evaluated by Flourine-18-Fluorodeoxyglucose-positron emission tomography/computed tomography ( 18 F-FDG-PET/CT). A 32-year-old male patient with NF1 underwent brain magnetic resonance imaging (MRI) for the onset of diplopia, facial paresis and cerebellar signs and symptoms. MRI showed a brainstem lesion compatible with BSG. Biopsy was not performed. 18 F-FDG-PET/CT demonstrated intense 18 F-FDG uptake in the brainstem lesion, suggesting an aggressive neoplasm. The patient was referred to radiotherapy but he developed rapid disease progression. In this case, 18 F-FDG-PET/CT provided useful information about this rare NF1-associated tumor ( Figs. 1 and 2).Subsequently, the patient was referred to radiotherapy, but he developed rapid disease progression and died 3 months later. NF-1 is an autosomal dominant disorder characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules [1]. NF-1 is also characterized by low-grade tumors of the central and peripheral nervous system. There is also an increased risk of developing malignant tumors such as malignant peripheral nerve sheath tumors or central nervous system high-grade Fig. 1 We report the case of a 32-year-old male patient with neurofibromatosis type 1 (NF1) affected by a brainstem glioma (BSG). The patient underwent brain magnetic resonance imaging (MRI) for the onset of diplopia, facial paresis and cerebellar signs and symptoms. Coronal (a, b) and axial (c, d) enhanced T1-weighted (a, c) and T2-weighted (b, d) MR images showed the presence of a pontine-based infiltrative lesion (arrows), which presented inhomogenous signal intensity on both T1-weighted and T2-weighted images for the coexistence of isointense and hyperintense areas. These MRI findings were suggestive of a BSG

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Clinical and genetic aspects of neurofibromatosis 1

Cited by 410 publications

References 216 publications

126 novel mutations in Italian patients with neurofibromatosis type 1

126 novel mutations in Italian patients with neurofibromatosis type 1

Synchronous neuroendocrine tumor and non‐small‐cell lung cancer in neurofibromatosis type 1

Usefulness of 18F-FDG-PET/CT in Evaluating a Brainstem Glioma in an Adult Patient with Neurofibromatosis Type 1

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