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→Molecular: update
Jensflorian (talk | contribs) (→General: +clinic) |
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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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*May be a part of [[neurofibromatosis type 2]]. | *May be a part of [[neurofibromatosis type 2]]. | ||
*Occurs at all ages. | *Occurs at all ages. | ||
==Macro== | |||
*Usu. encapsulated. | |||
*Cystic. | |||
*Yellow patches on white surface. | |||
**Variable lipidization. | |||
==Microscopic== | ==Microscopic== | ||
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====Cellular schwannoma==== | ====Cellular schwannoma==== | ||
*May mimic [[MPNST]]. | *May mimic [[MPNST]]. | ||
*Usu. <4 mitoses in 10 HPF (see [[HPFitis]]). | |||
*Absence of Verocay bodies. | |||
*Usu paravertebral location. | |||
Images: | Images: | ||
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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%). | ||
*INI1 mosaic pattern in familiar schwannomatosis.<ref>{{Cite journal | last1 = Caltabiano | first1 = R. | last2 = Magro | first2 = G. | last3 = Polizzi | first3 = A. | last4 = Praticò | first4 = AD. | last5 = Ortensi | first5 = A. | last6 = D'Orazi | first6 = V. | last7 = Panunzi | first7 = A. | last8 = Milone | first8 = P. | last9 = Maiolino | first9 = L. | title = A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. | journal = Childs Nerv Syst | volume = 33 | issue = 6 | pages = 933-940 | month = Jun | year = 2017 | doi = 10.1007/s00381-017-3340-2 | PMID = 28365909 }}</ref> | |||
* LZTR1-associated vestibular schwannomas.<ref>{{Cite journal | last1 = Evans | first1 = DG. | last2 = Bowers | first2 = NL. | last3 = Tobi | first3 = S. | last4 = Hartley | first4 = C. | last5 = Wallace | first5 = AJ. | last6 = King | first6 = AT. | last7 = Lloyd | first7 = SKW. | last8 = Rutherford | first8 = SA. | last9 = Hammerbeck-Ward | first9 = C. | title = Schwannomatosis: a genetic and epidemiological study. | journal = J Neurol Neurosurg Psychiatry | volume = | issue = | pages = | month = Jun | year = 2018 | doi = 10.1136/jnnp-2018-318538 | PMID = 29909380 }}</ref> | |||
Molecular subgroups:<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> | Molecular subgroups:<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> | ||
*Group 1: vestibular (has significant higher rate of 22q loss). | *Group 1: vestibular (has significant higher rate of 22q loss). | ||