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Atypical teratoid/rhabdoid tumour (view source)
Revision as of 11:00, 21 January 2020
, 11:00, 21 January 2020→Microscopic: DDx
Jensflorian (talk | contribs) (case 102 added) |
Jensflorian (talk | contribs) (→Microscopic: DDx) |
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| Micro = cellular tumour with small round cells usu. with a prominent nucleolus, rhabdoid cells (eosinophilic granular cytoplasm + eccentric nucleus), mitoses. +/-necrosis (common) | | Micro = cellular tumour with small round cells usu. with a prominent nucleolus, rhabdoid cells (eosinophilic granular cytoplasm + eccentric nucleus), mitoses. +/-necrosis (common) | ||
| Subtypes = | | Subtypes = | ||
| LMDDx = [[primitive neuroectodermal tumour]] (PNET), [[medulloblastoma]], [[diffuse astrocytoma]], [[choroid plexus carcinoma]],[[embryonal carcinoma]] | | LMDDx = [[primitive neuroectodermal tumour]] (PNET), [[medulloblastoma]], [[diffuse astrocytoma]], [[choroid plexus carcinoma]], [[embryonal carcinoma]] | ||
| Stains = | | Stains = | ||
| IHC = INI1 -ve, S-100 +ve, EMA +ve, SMA +ve | | IHC = INI1 -ve, S-100 +ve, EMA +ve, SMA +ve | ||
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*[[Embryonal carcinoma]]. | *[[Embryonal carcinoma]]. | ||
*[[Rhabdoid meningioma]]. | *[[Rhabdoid meningioma]]. | ||
*Intracranial [[Desmoplastic small round cell tumour]]. | |||
===Images=== | ===Images=== | ||
| Line 74: | Line 75: | ||
==IHC== | ==IHC== | ||
* INI1-ve ([[AKA]] ''BAF-47'', [[AKA]] ''SMARCB1'' - the HGNC symbol<ref name=omim601607>{{OMIM|601607}}</ref>) - virtually diagnostic (4/4 cases<ref name=pmid19212771/>). | * [[INI1]]-ve ([[AKA]] ''BAF-47'', [[AKA]] ''SMARCB1'' - the HGNC symbol<ref name=omim601607>{{OMIM|601607}}</ref>) - virtually diagnostic (4/4 cases<ref name=pmid19212771/>). | ||
**Endothelial cells +ve control. | **Endothelial cells +ve control. | ||
*S-100 +ve (4/4 cases<ref name=pmid19212771>{{Cite journal | last1 = Ertan | first1 = Y. | last2 = Sezak | first2 = M. | last3 = Turhan | first3 = T. | last4 = Kantar | first4 = M. | last5 = Erşahin | first5 = Y. | last6 = Mutluer | first6 = S. | last7 = Vergin | first7 = C. | last8 = Oniz | first8 = H. | last9 = Akalin | first9 = T. | title = Atypical teratoid/rhabdoid tumor of the central nervous system: clinicopathologic and immunohistochemical features of four cases. | journal = Childs Nerv Syst | volume = 25 | issue = 6 | pages = 707-11 | month = Jun | year = 2009 | doi = 10.1007/s00381-009-0811-0 | PMID = 19212771 }}</ref>). | *S-100 +ve (4/4 cases<ref name=pmid19212771>{{Cite journal | last1 = Ertan | first1 = Y. | last2 = Sezak | first2 = M. | last3 = Turhan | first3 = T. | last4 = Kantar | first4 = M. | last5 = Erşahin | first5 = Y. | last6 = Mutluer | first6 = S. | last7 = Vergin | first7 = C. | last8 = Oniz | first8 = H. | last9 = Akalin | first9 = T. | title = Atypical teratoid/rhabdoid tumor of the central nervous system: clinicopathologic and immunohistochemical features of four cases. | journal = Childs Nerv Syst | volume = 25 | issue = 6 | pages = 707-11 | month = Jun | year = 2009 | doi = 10.1007/s00381-009-0811-0 | PMID = 19212771 }}</ref>). | ||
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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== | ||