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Difference between revisions of "Schwannoma"
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→Molecular: INI1
Jensflorian (talk | contribs) (→Cellular schwannoma: +defintion) |
Jensflorian (talk | contribs) (→Molecular: INI1) |
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* less common: ARID1A, ARID1B, DDR, TSC1, TSC2. | * less common: ARID1A, ARID1B, DDR, TSC1, TSC2. | ||
* 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> | |||
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). | ||