Difference between revisions of "Atypical teratoid/rhabdoid tumour"

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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.  
'''Atypical teratoid/rhabdoid tumour''', abbreviated '''AT/RT''', is malignant tumour usually found supratentorially.  


It may be written '''atypical teratoid rhabdoid tumour''', i.e. without the forward slash (abbreviated '''ATRT''', or '''atypical teratoid-rhabdoid tumour''' (abbreviated '''AT-RT''').
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]]''.
It should '''not''' be confused with the ''[[extrarenal malignant rhabdoid tumour]]''.
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==General==
==General==
*Usually supratentorial, occasionally in posterior fossa, case reports of spinal cord.
*Usually supratentorial, occasionally in posterior fossa, case reports of spinal cord.
*Individuals usu. <3 years old, very rare 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>
*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.<ref name=pmid24477665/>
*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==
==Microscopic==
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*Cellular.
*Cellular.
*Small round cells usu. with a prominent nucleolus.
*Small round cells usu. with a prominent nucleolus.
*Rhabdoid cells.
*[[Rhabdoid]] cells.
**Cells with eosinophilic granular cytoplasm + eccentric nucleus.
**Cells with eosinophilic granular cytoplasm + eccentric nucleus.
*Mitoses.
*Mitoses.
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*[[Primitive neuroectodermal tumour]] (PNET).
*[[Primitive neuroectodermal tumour]] (PNET).
*[[Medulloblastoma]].
*[[Medulloblastoma]].
*[[Diffuse astrocytoma]].
*[[Small cell carcinoma]] metastasis.
*[[Choroid plexus carcinoma]].
*[[Choroid plexus carcinoma]].
*[[Embryonal carcinoma]].
*[[Embryonal carcinoma]].
*[[Rhabdoid meningioma]].
*Intracranial [[Desmoplastic small round cell tumour]].


===Images===
===Images===
<gallery>
<gallery>
Image:Rhabdoidtumourcell.jpg | Rhabdoid tumour cell. (WC)
Image:Rhabdoidtumourcell.jpg | Rhabdoid tumour cell. (WC/marvin101)
Image:ATRT-HE-Overview.jpg | AT/RT. (WC)
Image:ATRT-HE-Overview.jpg | AT/RT. (WC/marvin101)
Image:ATRT-INI1.jpg | AT/RT -ve for INI1. (WC)
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>
</gallery>
www:
www:
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==IHC==
==IHC==
*BAF-47 -ve ([[AKA]] ''INI1'', [[AKA]] ''SMARCB1'' - the HGNC symbol<ref name=omim601607>{{OMIM|601607}}</ref>) - virtually diagnostic.
* [[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.
*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.
**Few other brain tumours express it.
*Vimentin +ve (perinuclear condensation).
*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:
Others:
*GFAP +ve (focal - in tumour cells).
*GFAP +ve (focal - in tumour cells).
*EMA +ve (patchy cytoplasmic).
*EMA +ve - patchy cytoplasmic (4/4 cases<ref name=pmid19212771/>).
*Smooth muscle actin +ve.
*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==
==See also==
*[[Neuropathology tumours]].
*[[Neuropathology tumours]].
*[[Extrarenal malignant rhabdoid tumour]].
*[[Renal malignant rhabdoid tumour]].
*[[Miscellaneous ovarian tumours|Ovarian small cell carcinoma of the hypercalcemic type]]


==References==
==References==
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[[Category:Diagnosis]]
[[Category:Diagnosis]]
[[Category:Neuropathology tumours]]
[[Category:Neuropathology tumours]]
[[Category:Small round blue cell tumours]]

Latest revision as of 11:00, 21 January 2020

Atypical teratoid/rhabdoid tumour
Diagnosis in short

AT/RT. H&E stain.
LM cellular tumour with small round cells usu. with a prominent nucleolus, rhabdoid cells (eosinophilic granular cytoplasm + eccentric nucleus), mitoses. +/-necrosis (common)
LM DDx primitive neuroectodermal tumour (PNET), medulloblastoma, diffuse astrocytoma, choroid plexus carcinoma, embryonal carcinoma
IHC INI1 -ve, S-100 +ve, EMA +ve, SMA +ve
Site CNS - typically supratentorial
Clinical history usu. <3 years olds, occasionally adults
Prevalence uncommon - esp. in adults
Prognosis very poor

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.[1]
  • Prognosis very poor, but long-term survivors reported.[2]

Microscopic

Features:

  • Cellular.
  • Small round cells usu. with a prominent nucleolus.
  • Rhabdoid cells.
    • Cells with eosinophilic granular cytoplasm + eccentric nucleus.
  • Mitoses.
  • +/-Necrosis (common).

DDx:

Images

  • Rhabdoid tumour cell. (WC/marvin101)

  • AT/RT. (WC/marvin101)

  • AT/RT -ve for INI1. (WC/marvin101)

  • Rhabdoid cells in a AT/RT (WC/jensflorian)

  • AT/RT may be found anywhere in the brain or spinal cord (WC/marvin101)

  • AT/RT low mag.(WC/jensflorian)

  • AT/RT intermed. mag.(WC/jensflorian)

  • AT/RT high mag.(WC/jensflorian)

  • INI1 loss in a AT/RT. (WC/jensflorian)

www:

IHC

  • INI1-ve (AKA BAF-47, AKA SMARCB1 - the HGNC symbol[3]) - virtually diagnostic (4/4 cases[4]).
    • Endothelial cells +ve control.
  • S-100 +ve (4/4 cases[4]).
    • Few other brain tumours express it.
  • Vimentin +ve - perinuclear condensation (4/4 cases[4]).
  • LIN28 focally +ve [5]

Others:

  • GFAP +ve (focal - in tumour cells).
  • EMA +ve - patchy cytoplasmic (4/4 cases[4]).
  • Smooth muscle actin +ve.(4/4 cases[4]). [6]
  • Cytokeratin +ve.[7]
  • Kir 7.1 occasionally +ve[8]

Molecular

  • Almost all cases associated with SMARCB1 abberations.[9]
  • Single cases with SMARCA4 mutation.[10]
  • Two molecular subgroups:[11]
    • Group 1: usu. supratentorial, ASCL1-positive: high-risk.
    • Group 2: usu. infratentorial, BMP-signalling: very high risk.

See also

References

  1. ↑ Kanoto, M.; Toyoguchi, Y.; Hosoya, T.; Kuchiki, M.; Sugai, Y. (Jan 2014). "Radiological Image Features of the Atypical Teratoid/Rhabdoid Tumor in Adults: A Systematic Review.". Clin Neuroradiol. doi:10.1007/s00062-013-0282-2. PMID 24477665.
  2. ↑ von Hoff, K.; Hinkes, B.; Dannenmann-Stern, E.; von Bueren, AO.; Warmuth-Metz, M.; Soerensen, N.; Emser, A.; Zwiener, I. et al. (Dec 2011). "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.". Pediatr Blood Cancer 57 (6): 978-85. doi:10.1002/pbc.23236. PMID 21796761.
  3. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 601607
  4. ↑ 4.0 4.1 4.2 4.3 4.4 Ertan, Y.; Sezak, M.; Turhan, T.; Kantar, M.; Erşahin, Y.; Mutluer, S.; Vergin, C.; Oniz, H. et al. (Jun 2009). "Atypical teratoid/rhabdoid tumor of the central nervous system: clinicopathologic and immunohistochemical features of four cases.". Childs Nerv Syst 25 (6): 707-11. doi:10.1007/s00381-009-0811-0. PMID 19212771.
  5. ↑ Korshunov, A.; Ryzhova, M.; Jones, DT.; Northcott, PA.; van Sluis, P.; Volckmann, R.; Koster, J.; Versteeg, R. et al. (Dec 2012). "LIN28A immunoreactivity is a potent diagnostic marker of embryonal tumor with multilayered rosettes (ETMR).". Acta Neuropathol 124 (6): 875-81. doi:10.1007/s00401-012-1068-3. PMID 23161096.
  6. ↑ Lee, MC.; Park, SK.; Lim, JS.; Jung, S.; Kim, JH.; Woo, YJ.; Lee, JS.; Kim, HI. et al. (Dec 2002). "Atypical teratoid/rhabdoid tumor of the central nervous system: clinico-pathological study.". Neuropathology 22 (4): 252-60. PMID 12564764.
  7. ↑ Lee, MC.; Park, SK.; Lim, JS.; Jung, S.; Kim, JH.; Woo, YJ.; Lee, JS.; Kim, HI. et al. (Dec 2002). "Atypical teratoid/rhabdoid tumor of the central nervous system: clinico-pathological study.". Neuropathology 22 (4): 252-60. PMID 12564764.
  8. ↑ Schittenhelm, J.; Nagel, C.; Meyermann, R.; Beschorner, R. (Oct 2011). "Atypical teratoid/rhabdoid tumors may show morphological and immunohistochemical features seen in choroid plexus tumors.". Neuropathology 31 (5): 461-7. doi:10.1111/j.1440-1789.2010.01189.x. PMID 21276081.
  9. ↑ Hasselblatt, M.; Isken, S.; Linge, A.; Eikmeier, K.; Jeibmann, A.; Oyen, F.; Nagel, I.; Richter, J. et al. (Feb 2013). "High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors.". Genes Chromosomes Cancer 52 (2): 185-90. doi:10.1002/gcc.22018. PMID 23074045.
  10. ↑ Hasselblatt, M.; Gesk, S.; Oyen, F.; Rossi, S.; Viscardi, E.; Giangaspero, F.; Giannini, C.; Judkins, AR. et al. (Jun 2011). "Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.". Am J Surg Pathol 35 (6): 933-5. doi:10.1097/PAS.0b013e3182196a39. PMID 21566516.
  11. ↑ Torchia, J.; Picard, D.; Lafay-Cousin, L.; Hawkins, CE.; Kim, SK.; Letourneau, L.; Ra, YS.; Ho, KC. et al. (May 2015). "Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis.". Lancet Oncol 16 (5): 569-82. doi:10.1016/S1470-2045(15)70114-2. PMID 25882982.
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