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Difference between revisions of "Meningioma"
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molecular
Jensflorian (talk | contribs) (molecular) |
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*Whorls, Onion bulb formations. | *Whorls, Onion bulb formations. | ||
*Few psammoma bodies. | *Few psammoma bodies. | ||
Molecular: | |||
*AKT E17K mutations.<ref>{{Cite journal | last1 = Sahm | first1 = F. | last2 = Bissel | first2 = J. | last3 = Koelsche | first3 = C. | last4 = Schweizer | first4 = L. | last5 = Capper | first5 = D. | last6 = Reuss | first6 = D. | last7 = Böhmer | first7 = K. | last8 = Lass | first8 = U. | last9 = Göck | first9 = T. | title = AKT1E17K mutations cluster with meningothelial and transitional meningiomas and can be detected by SFRP1 immunohistochemistry. | journal = Acta Neuropathol | volume = 126 | issue = 5 | pages = 757-62 | month = Nov | year = 2013 | doi = 10.1007/s00401-013-1187-5 | PMID = 24096618 }}</ref> | |||
<gallery> | <gallery> | ||
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Microscopic: | Microscopic: | ||
*Clear cells - contain glycogen (PAS +ve). | *Clear cells - contain glycogen (PAS +ve). | ||
Molecular: | |||
*SMARCE1 mutations.<ref>{{Cite journal | last1 = Smith | first1 = MJ. | last2 = Wallace | first2 = AJ. | last3 = Bennett | first3 = C. | last4 = Hasselblatt | first4 = M. | last5 = Elert-Dobkowska | first5 = E. | last6 = Evans | first6 = LT. | last7 = Hickey | first7 = WF. | last8 = van Hoff | first8 = J. | last9 = Bauer | first9 = D. | title = Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas. | journal = J Pathol | volume = 234 | issue = 4 | pages = 436-40 | month = Dec | year = 2014 | doi = 10.1002/path.4427 | PMID = 25143307 }}</ref> | |||
Images: | Images: | ||
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*EMA +ve.<ref name=Ref_PSNP13>{{Ref PSNP|13}}</ref> | *EMA +ve.<ref name=Ref_PSNP13>{{Ref PSNP|13}}</ref> | ||
*Other CKs usually -ve. | *Other CKs usually -ve. | ||
==Molecular== | |||
Non-syndromal meningiomas may show SMO and AKT mutations.<ref>{{Cite journal | last1 = Clark | first1 = VE. | last2 = Erson-Omay | first2 = EZ. | last3 = Serin | first3 = A. | last4 = Yin | first4 = J. | last5 = Cotney | first5 = J. | last6 = Ozduman | first6 = K. | last7 = Avşar | first7 = T. | last8 = Li | first8 = J. | last9 = Murray | first9 = PB. | title = Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. | journal = Science | volume = 339 | issue = 6123 | pages = 1077-80 | month = Mar | year = 2013 | doi = 10.1126/science.1233009 | PMID = 23348505 }}</ref> | |||
Several inherited diseases are associated with meningiomas: | |||
*[[Neurofibromatosis]] type II<ref>{{Cite journal | last1 = Fontaine | first1 = B. | last2 = Rouleau | first2 = GA. | last3 = Seizinger | first3 = BR. | last4 = Menon | first4 = AG. | last5 = Jewell | first5 = AF. | last6 = Martuza | first6 = RL. | last7 = Gusella | first7 = JF. | title = Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma). | journal = Ann N Y Acad Sci | volume = 615 | issue = | pages = 338-43 | month = | year = 1991 | doi = | PMID = 2039155 }}</ref> | |||
*Germline SMARCE1 and SMARCB1 mutations<ref>{{Cite journal | last1 = Smith | first1 = MJ. | last2 = O'Sullivan | first2 = J. | last3 = Bhaskar | first3 = SS. | last4 = Hadfield | first4 = KD. | last5 = Poke | first5 = G. | last6 = Caird | first6 = J. | last7 = Sharif | first7 = S. | last8 = Eccles | first8 = D. | last9 = Fitzpatrick | first9 = D. | title = Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. | journal = Nat Genet | volume = 45 | issue = 3 | pages = 295-8 | month = Mar | year = 2013 | doi = 10.1038/ng.2552 | PMID = 23377182 }}</ref><ref>{{Cite journal | last1 = van den Munckhof | first1 = P. | last2 = Christiaans | first2 = I. | last3 = Kenter | first3 = SB. | last4 = Baas | first4 = F. | last5 = Hulsebos | first5 = TJ. | title = Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. | journal = Neurogenetics | volume = 13 | issue = 1 | pages = 1-7 | month = Feb | year = 2012 | doi = 10.1007/s10048-011-0300-y | PMID = 22038540 }}</ref> | |||
*Loss of SUFU (SHH-Pathway)<ref>{{Cite journal | last1 = Aavikko | first1 = M. | last2 = Li | first2 = SP. | last3 = Saarinen | first3 = S. | last4 = Alhopuro | first4 = P. | last5 = Kaasinen | first5 = E. | last6 = Morgunova | first6 = E. | last7 = Li | first7 = Y. | last8 = Vesanen | first8 = K. | last9 = Smith | first9 = MJ. | title = Loss of SUFU function in familial multiple meningioma. | journal = Am J Hum Genet | volume = 91 | issue = 3 | pages = 520-6 | month = Sep | year = 2012 | doi = 10.1016/j.ajhg.2012.07.015 | PMID = 22958902 }}</ref> | |||
===DDx of meningioma & IHC<ref name=pmid16393681>{{cite journal |author=Hahn HP, Bundock EA, Hornick JL |title=Immunohistochemical staining for claudin-1 can help distinguish meningiomas from histologic mimics |journal=Am. J. Clin. Pathol. |volume=125 |issue=2 |pages=203–8 |year=2006 |month=February |pmid=16393681 |doi=10.1309/G659-FVVB-MG7U-4RPQ |url=http://ajcp.ascpjournals.org/content/125/2/203.full.pdf}}</ref>=== | ===DDx of meningioma & IHC<ref name=pmid16393681>{{cite journal |author=Hahn HP, Bundock EA, Hornick JL |title=Immunohistochemical staining for claudin-1 can help distinguish meningiomas from histologic mimics |journal=Am. J. Clin. Pathol. |volume=125 |issue=2 |pages=203–8 |year=2006 |month=February |pmid=16393681 |doi=10.1309/G659-FVVB-MG7U-4RPQ |url=http://ajcp.ascpjournals.org/content/125/2/203.full.pdf}}</ref>=== | ||