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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 10:27, 1 April 2015
, 10:27, 1 April 2015+genetics, +references
Jensflorian (talk | contribs) (→Images: +pictures added) |
Jensflorian (talk | contribs) (+genetics, +references) |
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*Usually supratentorial, occasionally in posterior fossa, case reports of spinal cord. | *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> | *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 | *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> | ||
*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> | |||
==Microscopic== | ==Microscopic== | ||
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*[[Primitive neuroectodermal tumour]] (PNET). | *[[Primitive neuroectodermal tumour]] (PNET). | ||
*[[Medulloblastoma]]. | *[[Medulloblastoma]]. | ||
* | *Small cell carcinoma metastasis. | ||
*[[Choroid plexus carcinoma]]. | *[[Choroid plexus carcinoma]]. | ||
*[[Embryonal carcinoma]]. | *[[Embryonal carcinoma]]. | ||
*Rhabdoid meningioma. | |||
===Images=== | ===Images=== | ||
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Image:ATRT-INI1.jpg | AT/RT -ve for INI1. (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:Rhabdoid cells ATRT1.jpg | Rhabdoid cells in a AT/RT (WC/jensflorian) | ||
Image:ATRT-MRI.jpg | | Image:ATRT-MRI.jpg | AT/RT may be found anywhere in the brain or spinal cord (WC/marvin101) | ||
</gallery> | </gallery> | ||
www: | www: | ||
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**Few other brain tumours express it. | **Few other brain tumours express it. | ||
*Vimentin +ve - perinuclear condensation (4/4 cases<ref name=pmid19212771/>). | *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 (4/4 cases<ref name=pmid19212771/>). | *EMA +ve - patchy cytoplasmic (4/4 cases<ref name=pmid19212771/>). | ||
*Smooth muscle actin +ve.(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.{{ | *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> | |||
==See also== | ==See also== | ||
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*[[Extrarenal malignant rhabdoid tumour]]. | *[[Extrarenal malignant rhabdoid tumour]]. | ||
*[[Renal malignant rhabdoid tumour]]. | *[[Renal malignant rhabdoid tumour]]. | ||
*[[Miscellaneous ovarian tumours|Ovarian small cell carcinoma of the hypercalcemic type]] | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||