Neurofibromatosis 1
Research News and Information

Saturday, November 21, 2009

Natural history and outcome of optic pathway gliomas in children.

13 Dec 2009 BACKGROUND: The optimal management of optic pathway gliomas (OPGs) is complicated by their variable natural history, the association with neurofibromatosis type 1 (NF1) and difficulties in defining progression and response to treatment. METHODS: ... Read more...

Characteristics of children enrolled in treatment trials for NF1-related plexiform neurofibromas.

18 Oct 2009 OBJECTIVE: To describe the characteristics of children enrolled in treatment trials for neurofibromatosis type 1 (NF1)-related plexiform neurofibroma (PN), PN tumor burden, PN-related complications, and treatment outcomes and to highlight the ... Read more...

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array.

29 Sep 2009 Neurofibromatosis Type I (NF1) is an autosomal dominant disorder characterized by the development of both benign and malignant tumors. The lifetime risk for developing a malignant peripheral nerve sheath tumor (MPNST) in NF1 patients is ... Read more...

Latest indexed articles for 'Neurofibromatosis 1'

These are the very latest articles for this heading:

• Natural history and outcome of optic pathway gliomas in children. 13 Dec 2009
• Characteristics of children enrolled in treatment trials for NF1-related plexiform neurofibromas. 18 Oct 2009
• Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. 29 Sep 2009
• Primary pulmonary rhabdomyosarcoma in an adult with neurofibromatosis-1. 29 Sep 2009
• Risks of radiation therapy in patients with neurofibromatosis. 29 Sep 2009
• Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. 6 Sep 2009
• [Spontaneous hemothorax in a neurofibromatosis type I patient - a case report] 30 Aug 2009
• [Neurofibroma of the cranial vault in a patient with neurofibromatosis type 1] 30 Aug 2009
• Multiple sclerosis and neurofibromatosis type 1: report of seven patients from Iran. 30 Aug 2009
• A case of neurofibromatosis type I presenting with rapid enophthalmos caused by thoracoentesis. 30 Aug 2009
• Manifestation of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy. 30 Aug 2009
• Parental reports of health-related quality of life in greek children with neurofibromatosis type 1. 30 Aug 2009
• Glaucoma and globe enlargement associated with neurofibromatosis type 1. 30 Aug 2009
• Large intrathoracic meningocele associated with neurofibromatosis type 1. 30 Aug 2009
• Translaminar screw fixation of a kyphosis of the cervical and thoracic spine in neurofibromatosis. 30 Aug 2009
• Bone sarcomas arising in patients with neurofibromatosis type 1. 30 Aug 2009
• Health-related quality of life measures in genetic disorders: an outcome variable for consideration in clinical trials. 13 Aug 2009
• Taurine: a novel preventer of neurofibroma growth? 30 Jul 2009
• Cutaneous malignant peripheral nerve sheath tumors. 30 Jul 2009
• Diagnostic and management considerations posed by multiple café au lait spots. 30 Jul 2009

See a longer list of these articles.

Technical information about 'Neurofibromatosis 1'

Definition: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Descriptor UI: D009456

Alternative terms: Neurofibromatosis 1; NF1 (Neurofibromatosis 1); Recklinghausens Disease of Nerve; Recklinghausen's Disease of Nerve; Recklinghausen Disease, Nerve; von Recklinghausen Disease; von Recklinghausen's Disease; von Recklinghausens Disease; Neurofibromatosis, Peripheral, NF 1; Peripheral Neurofibromatosis; Neurofibromatoses, Peripheral; Neurofibromatosis, Peripheral; Peripheral Neurofibromatoses; Neurofibromatosis I; Neurofibromatosis Type I; I, Neurofibromatosis Type; Type I, Neurofibromatosis; Neurofibromatosis Type 1; Type 1, Neurofibromatosis; Neurofibromatosis, Type 1; Type 1 Neurofibromatosis; Neurofibromatosis, Type I; Neurofibromatoses, Type I; Type I Neurofibromatoses; Neurofibromatosis, Peripheral, NF1; Recklinghausen Disease of Nerve; Watson Syndrome; Syndrome, Watson;

Related Mesh Headings: Noonan Syndrome; Genes, Neurofibromatosis 1; Neurofibromin 1; LEOPARD Syndrome;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C04.557.580.600.580.590.650; C04.700.645.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.645.650;

History Note: 1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991

Technical Notes: do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant