Neurofibromatosis Type

NF1 neurofibromatosis type 1 benign and malignant peripheral nerve sheath tumors... 

To address whether the co-expression of CXCL12 and CXCR4 results in the activation of receptor signaling, Woemer et al. (2005)examined astrocytomas of various grades, Yang et al. (2007) examined medulloblastoma specimens, and Warrington et al. (2007) examined Neurofibromatosis Type-1 associated pilocytic... 

Rubin JB, Gutmann DH (2005) Neurofibromatosis type 1 - a model for nervous system tumour formation Nat Rev Cancer 5 557-564... 

Warrington NM, Woemer BM, Daginakatte GC, Dasgupta B, Perry A, Gutmaim DH, Rubin JB (2007) Spatiotemporal differences in CXCL12 expression and cyclic AMP underlie the unique pattern of optic glioma growth in neurofibromatosis type 1. Cancer Res 67 8588-8595... 

Neurofibromatosis type 1, a familial disorder characterized by multiple benign tumors of certain glial cells, is due to a mutation in the gene that codes for one form of GAP that regulates Ras [34], The mutation in GAP that leads to neurofibromatosis renders GAP unable to activate GTPase activity of Ras. This means that the GTP-bound form of Ras remains active for abnormally long periods of time, which leads to abnormal cellular growth. 

Eisenbarth, I., Beyer, K., Krone, W. and Assum, G. Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. Am. J. Hum. Genet. 66 393MT1, 2000. 

Neurofibromatosis type 2 is characterized by acoustic neuromas and caf6-au-lait spots. It is caused by mutations in a tumor suppressor gene on chromosome 22. 

A family in which a mutahon causing neurofibromatosis type 1 is transmitted in three generations. The genotype of a marker locus is shown for each pedigree member. 

In November 2005, a phase II/III study in NSCLC patients started in Australia and Canada, hi February 2006, Cediranib was undergoing a UK phase II/III trials in colorectal cancer. At that time, US phase II trials were underway in patients with advanced solid tumors, mesothelioma, melanoma, fiver, ovarian, peritoneal, fallopian tube, kidney, and breast cancers, hi May 2006, a US phase II trial began for neurofibromatosis type I and plexiform neurofibroma. 

Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS. A de novo Alu insertion results in neurofibromatosis type 1. Nature 1991 353(6347) 864-866. 

Utermark T, Alekov A, Lerche H, Abramowski V, Giovannini M, Hanemann CO (2003) Quinidine impairs proliferation of neurofibromatosis type 2-deficient human malignant mesothelioma cells. Cancer 97 1955-1962... 

Ehlers-Danlos syndrome" Pseudoxanthoma elasticum" Neurofibromatosis type I"... 

Wojtkowiak, J., et al. (2008). Induction of apoptosis in Neurofibromatosis Type 1 malignant peripheral nerve sheath tumor cell hnes by a combination of novel farnesyl transferase inhibitors and lovastatin. J Pharm Exp Ther 326 1-11. 

Bianchi AB, Mitsunaga S-1, Cheng JQ, et al. 1995. High frequency of inactivating mutations in the neurofibromatosis type 2 gene (NF2) in primary malignant mesotheliomas. Proc Nad Acad Sei U S A 92 10854-10858. 

A 16-year-old man with neurofibromatosis type 1, a malignant pheochromocytoma with lung and bone metastases, and candidiasis of the gastrointestinal tract with fungemia was taking nifedipine for arterial hjrper-tension. The fungal infection responded to fluconazole, but three attempts to withdraw the fluconazole resulted in recurrence of headache, palpitation, and increased blood pressure. 

Shen MH, Harper PS, Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NEl). J Med Genet 1996 33 2-17. 

Viskochil D, White R, Cawthon RL. The neurofibromatosis type 1 gene. Annu Rev Neurosci 1993 16 183-202. 

NF-1 p21ras-GTPase melanoma. Neurofibromatosis type 1, neuroblastoma... 

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