Journal ArticleDOI
Neurofibromatosis type 1 revisited.
Virginia Williams,John T. Lucas,Michael A. Babcock,David H. Gutmann,Bruce R. Korf,Bernard L. Maria +5 more
TLDR
The clinical manifestations, recent molecular and genetic findings, and current and developing therapies for managing clinical problems associated with neurofibromatosis type 1 are described.Abstract:
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of 1 per 2500 to 3000 individuals. Caused by a germ-line‐ inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical features of neurofibromatosis type 1. Moreover, improved understanding of how the neurofibromatosis type 1 protein, neurofibromin, regulates cell growth recently provided insight into the pathogenesis of the disease and has led to the development of new therapies. In this review, we describe the clinical manifestations, recent molecular and genetic findings, and current and developing therapies for managing clinical problems associated with neurofibromatosis type 1. Pediatrics 2009;123:124‐133read more
Citations
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Journal ArticleDOI
The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation
TL;DR: There are numerous overlapping phenotypic features between the RASopathies, including characteristic facial features, cardiac defects, cutaneous abnormalities, neurocognitive delay and a predisposition to malignancies.
Journal ArticleDOI
Clinical and genetic aspects of neurofibromatosis 1.
Kimberly Jett,Jan M. Friedman +1 more
TL;DR: One of the most common Mendelian disorders, neurofibromatosis 1, is caused by heterozygous mutations of the NF1 gene and almost one half of all affected individuals have de novo mutations.
Journal ArticleDOI
Neurofibromatosis type 1: a multidisciplinary approach to care.
Angela C. Hirbe,David H. Gutmann +1 more
TL;DR: Clinicians must be aware of the diverse clinical features of neurofibromatosis type 1, and advocate a multidisciplinary approach to care, entailing a dedicated team of specialists throughout the lifetime of the patient.
Journal ArticleDOI
PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
Kim M. Keppler-Noreuil,Jonathan J. Rios,Victoria E. R. Parker,Robert K. Semple,Marjorie J. Lindhurst,Julie C. Sapp,Ahmad I. Alomari,Marybeth Ezaki,William B. Dobyns,Leslie G. Biesecker +9 more
TL;DR: The phenotypic spectrum associated with different genotypes and mutation burdens was characterized, including a better understanding of associated complications and natural history, and preliminary recommendations for a uniform approach to assessment of overgrowth and molecular diagnostic testing were determined.
Journal ArticleDOI
Noonan syndrome and clinically related disorders
TL;DR: An overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations are provided.
References
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AZD2171, a Pan-VEGF Receptor Tyrosine Kinase Inhibitor, Normalizes Tumor Vasculature and Alleviates Edema in Glioblastoma Patients
Tracy T. Batchelor,A. Gregory Sorensen,A. Gregory Sorensen,Emmanuelle di Tomaso,Wei Ting Zhang,Wei Ting Zhang,Dan G. Duda,Kenneth S. Cohen,Kevin R. Kozak,Daniel P. Cahill,Poe Jou Chen,Poe Jou Chen,Mingwang Zhu,Mingwang Zhu,Marek Ancukiewicz,Maciej M. Mrugala,Scott R. Plotkin,Jan Drappatz,David N. Louis,Percy Ivy,David T. Scadden,Thomas Benner,Jay S. Loeffler,Patrick Y. Wen,Rakesh K. Jain +24 more
TL;DR: This study provides insight into different mechanisms of action of this class of drugs in recurrent glioblastoma patients and suggests that the timing of combination therapy may be critical for optimizing activity against this tumor.
Journal ArticleDOI
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients
Margaret R. Wallace,Douglas A. Marchuk,Lone B. Andersen,Roxanne Letcher,Hana Odeh,Ann M. Saulino,Jane W. Fountain,Anne Brereton,Jane M. Nicholson,Anna L. Mitchell,Bernard H. Brownstein,Francis S. Collins +11 more
TL;DR: The use of chromosome jumping and yeast artificial chromosome technology has now led to the identification of a large (approximately 13 kilobases) ubiquitously expressed transcript (denoted NF1LT) from this region that is definitely interrupted by one and most likely by both translocations, suggesting that NF1 LT represents the elusive NF1 gene.
Journal ArticleDOI
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.
David H. Gutmann,Arthur S. Aylsworth,John C. Carey,Bruce R. Korf,Joan Marks,Reed E. Pyeritz,Allan E. Rubenstein,David Viskochil +7 more
TL;DR: The diagnostic criteria for neurofibromatosis 1 and neurof fibromaatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders are determined.
Journal ArticleDOI
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.
Richard M. Cawthon,Robert B. Weiss,Gangfeng Xu,David Viskochil,Melanie Culver,Jeff Stevens,Margaret Robertson,Diane M. Dunn,Raymond F. Gesteland,Peter O'Connell,Ray White +10 more
TL;DR: The TBR gene is established as the NF1 gene and a description of a major segment of the gene is provided, indicating base pair changes in the gene.
Journal ArticleDOI
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
TL;DR: The lifetime risk of MPNST in NF1 is much higher than previously estimated and warrants careful surveillance and a low threshold for investigation.