There are three major clinically and genetically distinct forms of neurofibromatosis: neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis. NF1, also known as von Recklinghausen disease, is the most common type. The hallmarks of NF1 are the multiple café-au-lait macules and neurofibromas. The condition is called segmental NF1 when clinical features are limited to one area of the body.A total of 40 patients with NF-1 were identified between August 1998 to June 2000 with a prevalence rate of 20.4 per 10,000 individuals attending our clinic. Male to female ratio was 2.3: 1. The age of the patients ranged from 15 to 70 years with a mean age of 29.57 years
Most patients (18 cases) belonged to age group of 21-30 years followed by 11-20 years age group (11 cases). Twenty four cases had onset of disease between 11-20 years of age and ten cases in 21-30 years age group.Soft-tissue sarcomas, which result in approximately 10,700 diagnoses and 3,800 deaths per year in the United States1, show remarkable histologic diversity, with more than 50 recognized subtypes2. However, knowledge of their genomic alterations is limited. We describe an integrative analysis of DNA sequence, copy number and mRNA expression in 207 samples encompassing seven major subtypes.