NF1-associated plexiform neurofibroma
Thursday 7 May 2009
Definition: The hallmark of neurofibromatosis type 1 is the development of dermal and plexiform neurofibromas. Neurofibromatosis type 1 patients with plexiform neurofibromas are at risk of developing malignant peripheral nerve sheath tumors.
A limited number of pathways are potentially involved in plexiform neurofibroma development. (#11758709#)
The upregulated genes mainly encode molecules involved in cell adhesion, extracellular matrix, fibrogenesis, and angiogenesis.
Several CCN gene family members were dysregulated in neurofibromatosis type 1 tumorigenesis (#11758709#):
the angiogenic gene CCN1/CYR61 is specifically upregulated in the plexiform neurofibromas;
CCN4/WISP1 is upregulated;
CCN3/NOV and CCN5/WISP2 are downregulated in paired comparisons of plexiform neurofibroma and malignant peripheral nerve sheath tumor from the same patients.
CCN1 and CCN3 proteins are detected by immunohistochemistry in neurofibromatosis type 1-associated tumors. (#11758709#)
Upregulation of S100A8, S100A9, and CD36 is also observed and suggests a role of this pathway in inflammation-associated genesis of plexiform neurofibromas. (#11758709#)
neurofibromatosis type 1
Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis. Pasmant E, Ortonne N, Rittié L, Laurendeau I, Lévy P, Lazar V, Parfait B, Leroy K, Dessen P, Valeyrie-Allanore L, Perbal B, Wolkenstein P, Vidaud M, Vidaud D, Bièche I. J Neuropathol Exp Neurol. 2010 Jan;69(1):60-9. PMID: #20010302#
Malignant schwannoma of the sciatic nerve originating in a spinal plexiform neurofibroma associated with neurofibromatosis type 1 - case report. Topsakal C, Akdemir I, Tiftikci M, Ozercan I, Aydin Y. Neurol Med Chir (Tokyo). 2001 Nov;41(11):551-5. PMID: #11758709#