Neurofibroma pathophysiology: Difference between revisions

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==Pathogenesis==
==Pathogenesis==
* Neurofibromas arise from nonmyelinating-type [[Schwann cells]] that exhibit [[Allele|biallelic inactivation]] of the NF1 gene that codes for the protein [[Neurofibromin 1|neurofibromin]].<ref name="pmid11159187">{{cite journal |author=Muir D, Neubauer D, Lim IT, Yachnis AT, Wallace MR. |title=Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cells. |journal= American Journal of Pathology |volume=158 |issue=2 |pages=501–13 |year=2003 |pmid=11159187 |doi= 10.1016/S0002-9440(10)63992-2|pmc=1850316}}</ref> This protein is responsible for regulating the [[Ras (protein)|RAS]]-mediated [[cell growth]] [[signaling pathway]].
* Neurofibromas arise from nonmyelinating-type [[Schwann cells]].<ref name="pmid11159187">{{cite journal |author=Muir D, Neubauer D, Lim IT, Yachnis AT, Wallace MR. |title=Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cells. |journal= American Journal of Pathology |volume=158 |issue=2 |pages=501–13 |year=2003 |pmid=11159187 |doi= 10.1016/S0002-9440(10)63992-2|pmc=1850316}}</ref>  
 
* Dermal neurofibromas originate in [[nerve]]s in the [[skin]].
:* Discrete cutaneous neurofibromas: Sessile or pedunculated masses on the skin, which are fleshy and non-tender, and can vary in size.
:* Discrete subcutaneous neurofibromas: Lie below and look like bumps on the skin, which can sometimes be tender.
:* Deep nodular neurofibromas: Involving tissues and organs underneath the [[dermis]], but otherwise resembling cutaneous and subcutaneous neurofibromas.
 
 
* Plexiform neurofibromas can grow from [[nerve]]s in the [[skin]] or from more internal nerve bundles, and can be very large.<ref>Neurofibroma. Wikipedia 2015. https://en.wikipedia.org/wiki/Neurofibroma#cite_note-Yamashiroya2002-3</ref>
* Plexiform neurofibromas can grow from [[nerve]]s in the [[skin]] or from more internal nerve bundles, and can be very large.<ref>Neurofibroma. Wikipedia 2015. https://en.wikipedia.org/wiki/Neurofibroma#cite_note-Yamashiroya2002-3</ref>
* About 10% of plexiform neurofibromas undergo transformation into a [[malignant peripheral nerve sheath tumor]] (MPNST).<ref name="pmid12898075">{{cite journal |author=Mautner VF, Friedrich RE, von Deimling A, Hagel C, Korf B, Knöfel MT, Wenzel R, Fünsterer C. |title=Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma. |journal=American Journal of Pathology |volume=45 |issue=9 |pages=618–25 |year=2003 |pmid=12898075 |doi=10.1007/s00234-003-0964-6}}</ref>
* About 10% of plexiform neurofibromas undergo transformation into a [[malignant peripheral nerve sheath tumor]] (MPNST).<ref name="pmid12898075">{{cite journal |author=Mautner VF, Friedrich RE, von Deimling A, Hagel C, Korf B, Knöfel MT, Wenzel R, Fünsterer C. |title=Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma. |journal=American Journal of Pathology |volume=45 |issue=9 |pages=618–25 |year=2003 |pmid=12898075 |doi=10.1007/s00234-003-0964-6}}</ref>

Revision as of 20:39, 13 November 2015

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shanshan Cen, M.D. [2]

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References

  1. Muir D, Neubauer D, Lim IT, Yachnis AT, Wallace MR. (2003). "Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cells". American Journal of Pathology. 158 (2): 501–13. doi:10.1016/S0002-9440(10)63992-2. PMC 1850316. PMID 11159187.
  2. Neurofibroma. Wikipedia 2015. https://en.wikipedia.org/wiki/Neurofibroma#cite_note-Yamashiroya2002-3
  3. Mautner VF, Friedrich RE, von Deimling A, Hagel C, Korf B, Knöfel MT, Wenzel R, Fünsterer C. (2003). "Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma". American Journal of Pathology. 45 (9): 618–25. doi:10.1007/s00234-003-0964-6. PMID 12898075.
  4. Kluwe L, Friedrich R, Mautner VF (1999). <283::AID-GCC15>3.0.CO;2-K "Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma". Genes, Chromosomes & Cancer. 24 (3): 283–5. PMID 10451710. Retrieved 2015-11-13.


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