The article titled A clinical study of type 1 neurofibromatosis in north west England (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734324/pdf/v036p00197.pdf) includes a study in NW England about Neurofibromatosis type 1 (NF1). They found that in this particular region about 1 in 3000 to 1 in 4000 people have inherited this disorder which can be found as a mutation on chromosome 17. The authors studied characteristics of NF1 and found Café au lait spots, Axillary freckling, Groin freckling, cutaneous NF as well as subcutaneous NF to be common symptoms associated with NF1. The most common of outcomes due to these symptoms included optic nerve gliomas and Malignant nerve sheath tumors (MNST). The authors used a “time until an event” system from date of diagnosis to date of birth to determine percent’s of individuals and severity of symptoms and age comparison. Out of the 523 persons affected by NF1, 327 of which were found to have a first degree relative showing symptoms of NF1 as well. There was no evidence to show preference over male to females born to mothers known to have NF1. Table 2 (found in article) demonstrates that younger persons tend to have higher numbers of expressed symptoms in comparison with persons of age. This could be due to a higher death rate in cases with more severe symptoms or a greater number of symptoms expressed. Of the reported tumors Plexiform tumors followed by Malignant nerve sheath tumors were found to have to highest percent rate of risk. The necessary information was not available in regards to previous-existing plexiform neurofibromas.
I am more interested in MNST and if anyone knows of a better study or any idea as to where to look, please share. I am looking forward to learning more about MNST and will probably be writing another blog solely about them. Thanks for your help!