Neurofibroma

Neurofibroma
Neurofibroma of the skin in a person with neurofibromatosis type I
SpecialtyNeuro-oncology

A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. In 90% of cases, they are found as stand-alone tumors (solitary neurofibroma, solitary nerve sheath tumor[1] or sporadic neurofibroma[1]), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant genetically inherited disease. They can result in a range of symptoms from physical disfiguration and pain to cognitive disability.

Neurofibromas arise from nonmyelinating-type Schwann cells that exhibit biallelic inactivation of the NF1 gene that codes for the protein neurofibromin.[2] This protein is responsible for regulating the RAS-mediated cell growth signaling pathway. In contrast to schwannomas, another type of tumor arising from Schwann cells, neurofibromas incorporate many additional types of cells and structural elements in addition to Schwann cells, making it difficult to identify and understand all the mechanisms through which they originate and develop.[3]

  1. ^ a b Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. ^ Muir D, Neubauer D, Lim IT, Yachnis AT, Wallace MR (February 2001). "Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cells". The American Journal of Pathology. 158 (2): 501–513. doi:10.1016/S0002-9440(10)63992-2. PMC 1850316. PMID 11159187.
  3. ^ Miller RT (October 2004). "Immunohistochemistry in the differential diagnosis of schwannoma and neurofibroma" (PDF). Propath.