Neurofibromatosis type 1 (NF 1) associated with embryonal rhabdomyosarcoma of the orbit
β Scribed by Hadjistilianou, Theodora ;Mastrangelo, Domenico ;Gragnoli, Anna ;Capretti, Maria Cristina ;De Francesco, Sonia ;Galluzzi, Paolo
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 26 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0098-1532
- DOI
- 10.1002/mpo.1362
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## Communicated by Haig H. Kazazian One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors
Neurofibromatosis type 1 (NF1), an autosomal dominantly-inherited disorder, is mainly characterized by the occurrence of multiple dermal neurofibromas and is caused by mutations in the NF1 gene, a tumor suppressor gene. The variable expressivity of the disease and the lack of a genotype/phenotype co
We studied 20 unrelated NF1 patients by Southern blots with seven cDNA probes and loss of heterozygosity (LOH) analysis with four intragenic microsatellites (IVS26-2.3, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0). Four novel large deletions (178, 184, 236, and 237) have been identified and characteri