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Atypical teratoid/rhabdoid tumour (view source)
Revision as of 11:00, 21 January 2020
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{{ Infobox diagnosis | |||
| Name = {{PAGENAME}} | |||
| Image = ATRT-HE-Overview.jpg | |||
| Width = | |||
| Caption = AT/RT. [[H&E stain]]. | |||
| Synonyms = | |||
| Micro = cellular tumour with small round cells usu. with a prominent nucleolus, rhabdoid cells (eosinophilic granular cytoplasm + eccentric nucleus), mitoses. +/-necrosis (common) | |||
| Subtypes = | |||
| LMDDx = [[primitive neuroectodermal tumour]] (PNET), [[medulloblastoma]], [[diffuse astrocytoma]], [[choroid plexus carcinoma]], [[embryonal carcinoma]] | |||
| Stains = | |||
| IHC = INI1 -ve, S-100 +ve, EMA +ve, SMA +ve | |||
| EM = | |||
| Molecular = | |||
| IF = | |||
| Gross = | |||
| Grossing = | |||
| Site = [[CNS tumours|CNS]] - typically supratentorial | |||
| Assdx = | |||
| Syndromes = | |||
| Clinicalhx = usu. <3 years olds, occasionally adults | |||
| Signs = | |||
| Symptoms = | |||
| Prevalence = uncommon - esp. in adults | |||
| Bloodwork = | |||
| Rads = | |||
| Endoscopy = | |||
| Prognosis = very poor | |||
| Other = | |||
| ClinDDx = | |||
| Tx = | |||
}} | |||
'''Atypical teratoid/rhabdoid tumour''', abbreviated '''AT/RT''', is malignant tumour usually found supratentorially. | |||
It may be written '''atypical teratoid rhabdoid tumour''' (abbreviated '''ATRT''') or '''atypical teratoid-rhabdoid tumour''' (abbreviated '''AT-RT'''). | |||
It should '''not''' be confused with the ''[[extrarenal malignant rhabdoid tumour]]''. | |||
==General== | |||
*Usually supratentorial, occasionally in posterior fossa, case reports of spinal cord. | |||
*Individuals usually <3 years old, uncommon in adults.<ref name=pmid24477665>{{Cite journal | last1 = Kanoto | first1 = M. | last2 = Toyoguchi | first2 = Y. | last3 = Hosoya | first3 = T. | last4 = Kuchiki | first4 = M. | last5 = Sugai | first5 = Y. | title = Radiological Image Features of the Atypical Teratoid/Rhabdoid Tumor in Adults: A Systematic Review. | journal = Clin Neuroradiol | volume = | issue = | pages = | month = Jan | year = 2014 | doi = 10.1007/s00062-013-0282-2 | PMID = 24477665 }}</ref> | |||
*Prognosis very poor, but long-term survivors reported.<ref>{{Cite journal | last1 = von Hoff | first1 = K. | last2 = Hinkes | first2 = B. | last3 = Dannenmann-Stern | first3 = E. | last4 = von Bueren | first4 = AO. | last5 = Warmuth-Metz | first5 = M. | last6 = Soerensen | first6 = N. | last7 = Emser | first7 = A. | last8 = Zwiener | first8 = I. | last9 = Schlegel | first9 = PG. | title = Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database. | journal = Pediatr Blood Cancer | volume = 57 | issue = 6 | pages = 978-85 | month = Dec | year = 2011 | doi = 10.1002/pbc.23236 | PMID = 21796761 }}</ref> | |||
==Microscopic== | |||
Features: | |||
*Cellular. | |||
*Small round cells usu. with a prominent nucleolus. | |||
*[[Rhabdoid]] cells. | |||
**Cells with eosinophilic granular cytoplasm + eccentric nucleus. | |||
*Mitoses. | |||
*+/-[[Necrosis]] (common). | |||
DDx: | |||
*[[Primitive neuroectodermal tumour]] (PNET). | |||
*[[Medulloblastoma]]. | |||
*[[Small cell carcinoma]] metastasis. | |||
*[[Choroid plexus carcinoma]]. | |||
*[[Embryonal carcinoma]]. | |||
*[[Rhabdoid meningioma]]. | |||
*Intracranial [[Desmoplastic small round cell tumour]]. | |||
===Images=== | |||
<gallery> | |||
Image:Rhabdoidtumourcell.jpg | Rhabdoid tumour cell. (WC/marvin101) | |||
Image:ATRT-HE-Overview.jpg | AT/RT. (WC/marvin101) | |||
Image:ATRT-INI1.jpg | AT/RT -ve for INI1. (WC/marvin101) | |||
Image:Rhabdoid cells ATRT1.jpg | Rhabdoid cells in a AT/RT (WC/jensflorian) | |||
Image:ATRT-MRI.jpg | AT/RT may be found anywhere in the brain or spinal cord (WC/marvin101) | |||
Image:Neuropathology_case_IV_01.jpg | AT/RT low mag.(WC/jensflorian) | |||
Image:Neuropathology_case_IV_02.jpg | AT/RT intermed. mag.(WC/jensflorian) | |||
Image:Neuropathology_case_IV_03.jpg | AT/RT high mag.(WC/jensflorian) | |||
Image:Neuropathology_case_IV_04.jpg | INI1 loss in a AT/RT. (WC/jensflorian) | |||
</gallery> | |||
www: | |||
*[http://path.upmc.edu/cases/case99/micro.html AR/RT (upmc.edu)]. | |||
==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/>). | |||
**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>). | |||
**Few other brain tumours express it. | |||
*Vimentin +ve - perinuclear condensation (4/4 cases<ref name=pmid19212771/>). | |||
*LIN28 focally +ve <ref>{{Cite journal | last1 = Korshunov | first1 = A. | last2 = Ryzhova | first2 = M. | last3 = Jones | first3 = DT. | last4 = Northcott | first4 = PA. | last5 = van Sluis | first5 = P. | last6 = Volckmann | first6 = R. | last7 = Koster | first7 = J. | last8 = Versteeg | first8 = R. | last9 = Cowdrey | first9 = C. | title = LIN28A immunoreactivity is a potent diagnostic marker of embryonal tumor with multilayered rosettes (ETMR). | journal = Acta Neuropathol | volume = 124 | issue = 6 | pages = 875-81 | month = Dec | year = 2012 | doi = 10.1007/s00401-012-1068-3 | PMID = 23161096 }}</ref> | |||
Others: | |||
*GFAP +ve (focal - in tumour cells). | |||
*EMA +ve - patchy cytoplasmic (4/4 cases<ref name=pmid19212771/>). | |||
*Smooth muscle actin +ve.(4/4 cases<ref name=pmid19212771/>). <ref>{{Cite journal | last1 = Lee | first1 = MC. | last2 = Park | first2 = SK. | last3 = Lim | first3 = JS. | last4 = Jung | first4 = S. | last5 = Kim | first5 = JH. | last6 = Woo | first6 = YJ. | last7 = Lee | first7 = JS. | last8 = Kim | first8 = HI. | last9 = Jeong | first9 = MJ. | title = Atypical teratoid/rhabdoid tumor of the central nervous system: clinico-pathological study. | journal = Neuropathology | volume = 22 | issue = 4 | pages = 252-60 | month = Dec | year = 2002 | doi = | PMID = 12564764 }}</ref> | |||
*Cytokeratin +ve.<ref>{{Cite journal | last1 = Lee | first1 = MC. | last2 = Park | first2 = SK. | last3 = Lim | first3 = JS. | last4 = Jung | first4 = S. | last5 = Kim | first5 = JH. | last6 = Woo | first6 = YJ. | last7 = Lee | first7 = JS. | last8 = Kim | first8 = HI. | last9 = Jeong | first9 = MJ. | title = Atypical teratoid/rhabdoid tumor of the central nervous system: clinico-pathological study. | journal = Neuropathology | volume = 22 | issue = 4 | pages = 252-60 | month = Dec | year = 2002 | doi = | PMID = 12564764 }}</ref> | |||
*Kir 7.1 occasionally +ve<ref>{{Cite journal | last1 = Schittenhelm | first1 = J. | last2 = Nagel | first2 = C. | last3 = Meyermann | first3 = R. | last4 = Beschorner | first4 = R. | title = Atypical teratoid/rhabdoid tumors may show morphological and immunohistochemical features seen in choroid plexus tumors. | journal = Neuropathology | volume = 31 | issue = 5 | pages = 461-7 | month = Oct | year = 2011 | doi = 10.1111/j.1440-1789.2010.01189.x | PMID = 21276081 }}</ref> | |||
==Molecular== | |||
*Almost all cases associated with SMARCB1 abberations.<ref>{{Cite journal | last1 = Hasselblatt | first1 = M. | last2 = Isken | first2 = S. | last3 = Linge | first3 = A. | last4 = Eikmeier | first4 = K. | last5 = Jeibmann | first5 = A. | last6 = Oyen | first6 = F. | last7 = Nagel | first7 = I. | last8 = Richter | first8 = J. | last9 = Bartelheim | first9 = K. | title = High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. | journal = Genes Chromosomes Cancer | volume = 52 | issue = 2 | pages = 185-90 | month = Feb | year = 2013 | doi = 10.1002/gcc.22018 | PMID = 23074045 }}</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> | |||
** Group 1: usu. supratentorial, ASCL1-positive: high-risk. | |||
** Group 2: usu. infratentorial, BMP-signalling: very high risk. | |||
==See also== | |||
*[[Neuropathology tumours]]. | |||
*[[Extrarenal malignant rhabdoid tumour]]. | |||
*[[Renal malignant rhabdoid tumour]]. | |||
*[[Miscellaneous ovarian tumours|Ovarian small cell carcinoma of the hypercalcemic type]] | |||
==References== | |||
{{Reflist|2}} | |||
[[Category:Diagnosis]] | |||
[[Category:Neuropathology tumours]] | |||
[[Category:Small round blue cell tumours]] | |||