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→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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==General== | ==General== | ||
*A common [[neuropathology]] [[CNS tumours|tumour]] that occasionally shows-up elsewhere. | *A common [[neuropathology]] [[CNS tumours|tumour]] that occasionally shows-up elsewhere. | ||
* | *often encapsulated tumour of tissue surrounding a nerve. | ||
**Axons adjacent to the tumour are normal... but may be compressed. | **Axons adjacent to the tumour are normal... but may be compressed. | ||
*May be a part of [[neurofibromatosis type 2]]. | *May be a part of [[neurofibromatosis type 2]]. | ||
*Occurs at all ages. | |||
==Macro== | |||
*Usu. encapsulated. | |||
*Cystic. | |||
*Yellow patches on white surface. | |||
**Variable lipidization. | |||
==Microscopic== | ==Microscopic== | ||
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*In the GI tract: classically have a ''peripheral lymphoid cuff''.<ref name=pmid15728600>{{cite journal |author=Levy AD, Quiles AM, Miettinen M, Sobin LH |title=Gastrointestinal schwannomas: CT features with clinicopathologic correlation |journal=AJR Am J Roentgenol |volume=184 |issue=3 |pages=797–802 |year=2005 |month=March |pmid=15728600 |doi= |url=http://www.ajronline.org/cgi/content/full/184/3/797}}</ref> | *In the GI tract: classically have a ''peripheral lymphoid cuff''.<ref name=pmid15728600>{{cite journal |author=Levy AD, Quiles AM, Miettinen M, Sobin LH |title=Gastrointestinal schwannomas: CT features with clinicopathologic correlation |journal=AJR Am J Roentgenol |volume=184 |issue=3 |pages=797–802 |year=2005 |month=March |pmid=15728600 |doi= |url=http://www.ajronline.org/cgi/content/full/184/3/797}}</ref> | ||
*+/-Hemosiderin deposition within tumour. | *+/-Hemosiderin deposition within tumour. | ||
*Reticulin stain +ve (around individual cells). | |||
Notes: | Notes: | ||
*Tumour does ''not'' smear well.<ref>MUN. 24 November 2010.</ref> | *Tumour does ''not'' smear well.<ref>MUN. 24 November 2010.</ref> | ||
*Antoni A: may look somewhat like scattered matchsticks. | *Antoni A: may look somewhat like scattered matchsticks. | ||
*Hybrid Schwannoma / [[Neurofibroma]] are overrepresented in hereditary conditions.<ref>{{Cite journal | last1 = Harder | first1 = A. | last2 = Wesemann | first2 = M. | last3 = Hagel | first3 = C. | last4 = Schittenhelm | first4 = J. | last5 = Fischer | first5 = S. | last6 = Tatagiba | first6 = M. | last7 = Nagel | first7 = C. | last8 = Jeibmann | first8 = A. | last9 = Bohring | first9 = A. | title = Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients. | journal = Am J Surg Pathol | volume = 36 | issue = 5 | pages = 702-9 | month = May | year = 2012 | doi = 10.1097/PAS.0b013e31824d3155 | PMID = 22446939 }}</ref> | |||
DDx: | DDx: | ||
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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). | ||