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→Molecular: update
Jensflorian (talk | contribs) (→Molecular: Update on pediatric meningioma) |
Jensflorian (talk | contribs) (→Molecular: update) |
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==Molecular== | ==Molecular== | ||
Non-syndromal meningiomas may show AKT1/TRAF7, SMO, KLF4/TRAF7, and PIK3CA 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> | Non-syndromal meningiomas may show AKT1/TRAF7, SMO, KLF4/TRAF7, and PIK3CA mutations (1/3 of cases).<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> | ||
*AKT/TRAF7 mutations are usually basal and associated with meningothelial histology. | |||
*KLF4/TRAF7 mutations are highly specific for secretory histology. | |||
*TRAF7 mutations are the first step and occur thorughout the WD40 domain. <ref>{{cite journal |vauthors=Dogan H, Blume C, Patel A, Jungwirth G, Sogerer L, Ratliff M, Ketter R, Herold-Mende C, Jones DTW, Wick W, Vollmuth P, Zweckberger K, Reuss D, von Deimling A, Sahm F |title=Single-cell DNA sequencing reveals order of mutational acquisition in TRAF7/AKT1 and TRAF7/KLF4 mutant meningiomas |journal=Acta Neuropathol |volume=144 |issue=4 |pages=799–802 |date=October 2022 |pmid=35984495 |doi=10.1007/s00401-022-02485-6 |url=}}</ref> | |||
Intraventricular meningiomas have NF2 mutations. | |||
<ref>{{cite journal |vauthors=Jungwirth G, Warta R, Beynon C, Sahm F, von Deimling A, Unterberg A, Herold-Mende C, Jungk C |title=Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT |journal=Acta Neuropathol Commun |volume=7 |issue=1 |pages=140 |date=August 2019 |pmid=31470906 |pmc=6716845 |doi=10.1186/s40478-019-0793-4 |url=}}</ref> | |||
Several inherited diseases are associated with meningiomas: | Several inherited diseases are associated with meningiomas: | ||