Genetic alterations and growth factors in the pathogenesis of von Recklinghausen neurofibromatosis.

This paper is a summary review of recent developments with regard to the pathogenesis of von Recklinghausen neurofibromatosis, or NF-1. In the section on molecular biology of NF-1, the focus is on genetic linkage, with a note about prenatal diagnosis, tumor genetics and animal models. In the section on growth factors and receptors, the first element deals with neurofibromatosis as a model of cellular interaction, and particularly the issues of dysplasia versus neoplasia, cell-cell interactions and 'vicious cycle' positive feedback mechanisms; additional elements focus on nerve growth factor-beta, Schwann cell mitogens and other growth factors. In the last section, the focus is on further developments in terms of molecular biology, but with additional emphasis on the need for very intense input from the clinicians characterizing the many phenotypes of NF-1 and its NF and non-NF alternatives.