Neurofibromatosis Type I and Multiple Gastrointestinal Stromal Tumors: A Unique Identity

Abstract

Von Recklinghausen’s disease (VRD) is a genetic disorder characterized by the growth of multiple
noncancerous tumors of nerves and skin (neurofibromas) and areas of hypo or hyperpigmentation
of the skin. It is also known as Neurofibromatosis type I (NF1) and represents one
type of VRD. It is an autosomal dominant disorder with a rate of occurrence of 1 in 3000 in the
general population.1 The cause of NF1 is a mutation in the NF1 gene, located at the chromosome
17q11.2, which encodes the tumor suppressor gene, neurofibromin. Loss of neurofibromin
function results in activity of Ras oncogene and consequently tumor formation.