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NF1-associated plexiform neurofibroma

Thursday 7 May 2009

Digital cases

- HPC:105 : NF1-associated plexiform neurofibroma
- HPC:401 : Palpebral plexiform neurofibroma in NF1

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.

Expression profile

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)

See also

- plexiform neurofibroma
- NF1
- 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