Schwannoma: Difference between revisions
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Jensflorian (talk | contribs) →Molecular: LZTR1 |
Jensflorian (talk | contribs) →Molecular: update |
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| Site = [[soft tissue lesions|soft tissue]] - [[peripheral nerve sheath tumours]] | | Site = [[soft tissue lesions|soft tissue]] - [[peripheral nerve sheath tumours]] | ||
| Assdx = | | Assdx = | ||
| Syndromes = [[neurofibromatosis type 2]], [[Carney complex]] (psammomatous melanotic schwannoma) | | Syndromes = [[neurofibromatosis type 2]], [[Carney complex]] (psammomatous melanotic schwannoma), schwannomatosis | ||
| Clinicalhx = | | Clinicalhx = | ||
| Signs = | | Signs = | ||
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==Molecular== | ==Molecular== | ||
Overview: <ref>{{Cite journal | last1 = Agnihotri | first1 = S. | last2 = Jalali | first2 = S. | last3 = Wilson | first3 = MR. | last4 = Danesh | first4 = A. | last5 = Li | first5 = M. | last6 = Klironomos | first6 = G. | last7 = Krieger | first7 = JR. | last8 = Mansouri | first8 = A. | last9 = Khan | first9 = O. | title = The genomic landscape of schwannoma. | journal = Nat Genet | volume = 48 | issue = 11 | pages = 1339-1348 | month = 11 | year = 2016 | doi = 10.1038/ng.3688 | PMID = 27723760 }}</ref> | Overview: <ref>{{Cite journal | last1 = Agnihotri | first1 = S. | last2 = Jalali | first2 = S. | last3 = Wilson | first3 = MR. | last4 = Danesh | first4 = A. | last5 = Li | first5 = M. | last6 = Klironomos | first6 = G. | last7 = Krieger | first7 = JR. | last8 = Mansouri | first8 = A. | last9 = Khan | first9 = O. | title = The genomic landscape of schwannoma. | journal = Nat Genet | volume = 48 | issue = 11 | pages = 1339-1348 | month = 11 | year = 2016 | doi = 10.1038/ng.3688 | PMID = 27723760 }}</ref> | ||
* Most common: NF2. | * Most common: NF2 (in Vestibular Schwannoma up to84%). | ||
* less common: ARID1A, ARID1B, DDR, TSC1, TSC2. | * less common: ARID1A, ARID1B, DDR, TSC1, TSC2, CDC27 and USP8. | ||
* SH3PXD2A-HTRA1 fusions (10%). | * SH3PXD2A-HTRA1 fusions (10%). | ||