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→Molecular: Update on pediatric meningioma
Jensflorian (talk | contribs) (→Other morphological variants: Image of rare variant added) |
Jensflorian (talk | contribs) (→Molecular: Update on pediatric meningioma) |
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==Molecular== | ==Molecular== | ||
Non-syndromal meningiomas may show SMO and | 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> | ||
Several inherited diseases are associated with meningiomas: | 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> | *[[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> | *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> | *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> | ||
*Rare YAP1 fusions in a subset of pediatric meningioma (HIPPO pathyway).<ref>{{Cite journal | last1 = Sievers | first1 = P. | last2 = Chiang | first2 = J. | last3 = Schrimpf | first3 = D. | last4 = Stichel | first4 = D. | last5 = Paramasivam | first5 = N. | last6 = Sill | first6 = M. | last7 = Gayden | first7 = T. | last8 = Casalini | first8 = B. | last9 = Reuss | first9 = DE. | title = YAP1-fusions in pediatric NF2-wildtype meningioma. | journal = Acta Neuropathol | volume = | issue = | pages = | month = Nov | year = 2019 | doi = 10.1007/s00401-019-02095-9 | PMID = 31734728 }}</ref> | |||
Methylation profiling distinguishes two major groups with six distinct clinically relevant methylation classes.<ref>{{Cite journal | last1 = Sahm | first1 = F. | last2 = Schrimpf | first2 = D. | last3 = Stichel | first3 = D. | last4 = Jones | first4 = DT. | last5 = Hielscher | first5 = T. | last6 = Schefzyk | first6 = S. | last7 = Okonechnikov | first7 = K. | last8 = Koelsche | first8 = C. | last9 = Reuss | first9 = DE. | title = DNA methylation-based classification and grading system for meningioma: a multicentre, retrospective analysis. | journal = Lancet Oncol | volume = | issue = | pages = | month = Mar | year = 2017 | doi = 10.1016/S1470-2045(17)30155-9 | PMID = 28314689 }}</ref> | Methylation profiling distinguishes two major groups with six distinct clinically relevant methylation classes.<ref>{{Cite journal | last1 = Sahm | first1 = F. | last2 = Schrimpf | first2 = D. | last3 = Stichel | first3 = D. | last4 = Jones | first4 = DT. | last5 = Hielscher | first5 = T. | last6 = Schefzyk | first6 = S. | last7 = Okonechnikov | first7 = K. | last8 = Koelsche | first8 = C. | last9 = Reuss | first9 = DE. | title = DNA methylation-based classification and grading system for meningioma: a multicentre, retrospective analysis. | journal = Lancet Oncol | volume = | issue = | pages = | month = Mar | year = 2017 | doi = 10.1016/S1470-2045(17)30155-9 | PMID = 28314689 }}</ref> | ||