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Difference between revisions of "Atypical teratoid/rhabdoid tumour"
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Atypical teratoid/rhabdoid tumour (view source)
Revision as of 16:40, 29 September 2017
, 16:40, 29 September 2017→Molecular
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*Single cases with SMARCA4 mutation.<ref>{{Cite journal | last1 = Hasselblatt | first1 = M. | last2 = Gesk | first2 = S. | last3 = Oyen | first3 = F. | last4 = Rossi | first4 = S. | last5 = Viscardi | first5 = E. | last6 = Giangaspero | first6 = F. | last7 = Giannini | first7 = C. | last8 = Judkins | first8 = AR. | last9 = Frühwald | first9 = MC. | title = Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. | journal = Am J Surg Pathol | volume = 35 | issue = 6 | pages = 933-5 | month = Jun | year = 2011 | doi = 10.1097/PAS.0b013e3182196a39 | PMID = 21566516 }}</ref> | *Single cases with SMARCA4 mutation.<ref>{{Cite journal | last1 = Hasselblatt | first1 = M. | last2 = Gesk | first2 = S. | last3 = Oyen | first3 = F. | last4 = Rossi | first4 = S. | last5 = Viscardi | first5 = E. | last6 = Giangaspero | first6 = F. | last7 = Giannini | first7 = C. | last8 = Judkins | first8 = AR. | last9 = Frühwald | first9 = MC. | title = Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. | journal = Am J Surg Pathol | volume = 35 | issue = 6 | pages = 933-5 | month = Jun | year = 2011 | doi = 10.1097/PAS.0b013e3182196a39 | PMID = 21566516 }}</ref> | ||
* Two molecular subgroups:<ref>{{Cite journal | last1 = Torchia | first1 = J. | last2 = Picard | first2 = D. | last3 = Lafay-Cousin | first3 = L. | last4 = Hawkins | first4 = CE. | last5 = Kim | first5 = SK. | last6 = Letourneau | first6 = L. | last7 = Ra | first7 = YS. | last8 = Ho | first8 = KC. | last9 = Chan | first9 = TS. | title = Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis. | journal = Lancet Oncol | volume = 16 | issue = 5 | pages = 569-82 | month = May | year = 2015 | doi = 10.1016/S1470-2045(15)70114-2 | PMID = 25882982 }}</ref> | * Two molecular subgroups:<ref>{{Cite journal | last1 = Torchia | first1 = J. | last2 = Picard | first2 = D. | last3 = Lafay-Cousin | first3 = L. | last4 = Hawkins | first4 = CE. | last5 = Kim | first5 = SK. | last6 = Letourneau | first6 = L. | last7 = Ra | first7 = YS. | last8 = Ho | first8 = KC. | last9 = Chan | first9 = TS. | title = Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis. | journal = Lancet Oncol | volume = 16 | issue = 5 | pages = 569-82 | month = May | year = 2015 | doi = 10.1016/S1470-2045(15)70114-2 | PMID = 25882982 }}</ref> | ||
** Group 1: usu. supratentorial, ASCL1-positive: high-risk | ** Group 1: usu. supratentorial, ASCL1-positive: high-risk. | ||
** Group 2: usu. infratentorial, BMP-signalling: very high risk | ** Group 2: usu. infratentorial, BMP-signalling: very high risk. | ||
==See also== | ==See also== | ||