Atypical teratoid rhabdoid tumor differential diagnosis: Difference between revisions

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{{Atypical teratoid rhabdoid tumor}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Atypical_teratoid_rhabdoid_tumor]]
{{CMG}}{{AE}}{{SR}}
{{CMG}}{{AE}}{{SR}}{{Sab}}


==Overview==
==Overview==
Atypical teratoid rhabdoid tumor must be differentiated from [[medulloblastoma]], [[pineoblastoma]], spinal primitive neuroectodermal tumors, and [[pineal gland tumor|other pineal gland masses]].<ref name=ddxatrt1>Differential diagnosis of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015</ref><ref name=ddxatrt2>Differential diagnosis of atypical teratoid rhabdoid tumor. Wikipedia 2015. https://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor. Accessed on December 15, 2015</ref>
Atypical teratoid rhabdoid tumor must be differentiated from [[medulloblastoma]], [[pineoblastoma]], spinal primitive neuroectodermal tumors, and [[pineal gland tumor|other pineal gland masses]].<ref name="ddxatrt1">Differential diagnosis of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015</ref><ref name="ddxatrt2">Differential diagnosis of atypical teratoid rhabdoid tumor. Wikipedia 2015. https://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor. Accessed on December 15, 2015</ref>


==Differentiating Atypical Teratoid Rhabdoid Tumor from other Diseases==
==Differentiating Atypical Teratoid Rhabdoid Tumor from other Diseases==
Atypical teratoid rhabdoid tumor must be differentiated from:<ref name=ddxatrt1>Differential diagnosis of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015</ref><ref name=ddxatrt2>Differential diagnosis of atypical teratoid rhabdoid tumor. Wikipedia 2015. https://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor. Accessed on December 15, 2015</ref>
Atypical teratoid rhabdoid tumor must be differentiated from:<ref name="ddxatrt1">Differential diagnosis of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015</ref><ref name="ddxatrt2">Differential diagnosis of atypical teratoid rhabdoid tumor. Wikipedia 2015. https://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor. Accessed on December 15, 2015</ref>
*[[Medulloblastoma]]
*[[Medulloblastoma]]
*[[Pineoblastoma]]
*[[Pineoblastoma]]
*Spinal primitive neuroectodermal tumors
*Spinal primitive neuroectodermal tumors
*[[pineal gland tumor|Other pineal gland masses]]
*[[pineal gland tumor|Other pineal gland masses]]
*Intracerebral teratoma
*[[teratoma|Intracerebral teratoma]]
*[[Choroid plexus papilloma and carcinoma|Choroid plexus carcinoma]]
*[[Choroid plexus papilloma and carcinoma|Choroid plexus carcinoma]]


=== On the basis of [[seizure]], [[visual disturbance]], and constitutional symptoms, atypical teratoid rhabdoid tumor must be differentiated from [[Medulloblastoma]], [[Pilocytic astrocytoma]], [[Ependymoma]], [[Craniopharyngioma]], and [[Pinealoma]]. ===
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! rowspan="4" |Diseases
| colspan="5" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Clinical manifestations'''
! colspan="3" rowspan="2" |Para-clinical findings
| colspan="1" rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Gold<br>standard'''
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Additional findings
|-
| colspan="4" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Symptoms'''
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical examination
|-
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab Findings
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |MRI
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Immunohistopathology
|-
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Head-<br>ache
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Seizure
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Visual disturbance
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Constitutional
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Focal neurological deficit
|-
! colspan="11" style="background: #7d7d7d; color: #FFFFFF; padding: 5px; text-align: center;" |Childhood primary brain tumors
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Atypical teratoid rhabdoid tumor
| style="background: #F5F5F5; padding: 5px; text-align: center;" |+
| style="background: #F5F5F5; padding: 5px; text-align: center;" |+/-
| style="background: #F5F5F5; padding: 5px; text-align: center;" |+/-
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-
| style="background: #F5F5F5; padding: 5px; text-align: center;" |+
| style="background: #F5F5F5; padding: 5px; text-align: center;" |On [[CSF]] analysis:
* Large [[tumor]] [[Cell (biology)|cells]]
* Eccentricity of the [[Cell nucleus|nuclei]]
* Prominent [[Nucleolus|nucleoli]]
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
* Iso- to slight hyperintensity on T1-weighted [[imaging]]
* Hyperintensity on T2-weighted [[imaging]]
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
* Loss of INI-1 [[staining]] in the [[Cancer|neoplastic]] [[Cell (biology)|cells]]
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
* [[Biopsy]]
| style="background: #F5F5F5; padding: 5px;" |
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Medulloblastoma]]<br><ref name="DorwartWara1981">{{cite journal|last1=Dorwart|first1=R H|last2=Wara|first2=W M|last3=Norman|first3=D|last4=Levin|first4=V A|title=Complete myelographic evaluation of spinal metastases from medulloblastoma.|journal=Radiology|volume=139|issue=2|year=1981|pages=403–408|issn=0033-8419|doi=10.1148/radiology.139.2.7220886}}</ref><ref name="Fruehwald-PallamarPuchner2011">{{cite journal|last1=Fruehwald-Pallamar|first1=Julia|last2=Puchner|first2=Stefan B.|last3=Rossi|first3=Andrea|last4=Garre|first4=Maria L.|last5=Cama|first5=Armando|last6=Koelblinger|first6=Claus|last7=Osborn|first7=Anne G.|last8=Thurnher|first8=Majda M.|title=Magnetic resonance imaging spectrum of medulloblastoma|journal=Neuroradiology|volume=53|issue=6|year=2011|pages=387–396|issn=0028-3940|doi=10.1007/s00234-010-0829-8}}</ref><ref name="BurgerGrahmann1987">{{cite journal|last1=Burger|first1=P. C.|last2=Grahmann|first2=F. C.|last3=Bliestle|first3=A.|last4=Kleihues|first4=P.|title=Differentiation in the medulloblastoma|journal=Acta Neuropathologica|volume=73|issue=2|year=1987|pages=115–123|issn=0001-6322|doi=10.1007/BF00693776}}</ref>
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/−
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/−
| style="background: #F5F5F5; padding: 5px; text-align: center;" | −
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | −
| style="background: #F5F5F5; padding: 5px;" |
* [[Infratentorial]]
* Mostly in [[cerebellum]]
* Non communicating [[hydrocephalus]]
| style="background: #F5F5F5; padding: 5px;" |
* [[Neuroectoderm]] origin
* Homer wright rosettes
| style="background: #F5F5F5; padding: 5px;" |
* [[Biopsy]]
| style="background: #F5F5F5; padding: 5px;" |
* [[Drop metastasis]] ([[metastasis]] through [[CSF]])
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Pilocytic astrocytoma]]<br><ref name="pmid179640282">{{cite journal |vauthors=Sathornsumetee S, Rich JN, Reardon DA |title=Diagnosis and treatment of high-grade astrocytoma |journal=Neurol Clin |volume=25 |issue=4 |pages=1111–39, x |date=November 2007 |pmid=17964028 |doi=10.1016/j.ncl.2007.07.004 |url=}}</ref><ref name="pmid228197182">{{cite journal |vauthors=Pedersen CL, Romner B |title=Current treatment of low grade astrocytoma: a review |journal=Clin Neurol Neurosurg |volume=115 |issue=1 |pages=1–8 |date=January 2013 |pmid=22819718 |doi=10.1016/j.clineuro.2012.07.002 |url=}}</ref><ref name=":02">{{cite book | last = Mattle | first = Heinrich | title = Fundamentals of neurology : an illustrated guide | publisher = Thieme | location = Stuttgart New York | year = 2017 | isbn = 9783131364524 }}</ref>
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/−
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/−
| style="background: #F5F5F5; padding: 5px; text-align: center;" | −
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | −
| style="background: #F5F5F5; padding: 5px;" |
* [[Infratentorial]]
* Solid and [[Cyst|cystic]] component
* Mostly in [[posterior fossa]]
* Usually in [[Cerebellar hemisphere|cerebellar hemisphers]] and [[Cerebellar vermis|vermis]]
| style="background: #F5F5F5; padding: 5px;" |
* [[Glial cell]] origin
*Solid and [[Cyst|cystic]] component
* [[GFAP]] +
| style="background: #F5F5F5; padding: 5px;" |
* [[Biopsy]]
| style="background: #F5F5F5; padding: 5px;" |
* Most of the time, [[Cerebellum|cerebellar]] dysfunction is the presenting [[signs]].
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Ependymoma]]<br><ref name="YuhBarkovich2009">{{cite journal|last1=Yuh|first1=E. L.|last2=Barkovich|first2=A. J.|last3=Gupta|first3=N.|title=Imaging of ependymomas: MRI and CT|journal=Child's Nervous System|volume=25|issue=10|year=2009|pages=1203–1213|issn=0256-7040|doi=10.1007/s00381-009-0878-7}}</ref><ref name=":0" />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/−
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/−
| style="background: #F5F5F5; padding: 5px; text-align: center;" | −
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | −
| style="background: #F5F5F5; padding: 5px;" |
* [[Infratentorial]]
* Usually found in [[Fourth ventricle|4th ventricle]]
* Mixed [[Cyst|cystic]]/solid [[lesion]]
* Hydrocephalus
| style="background: #F5F5F5; padding: 5px;" |
* [[Ependymal cell]] origin
* Peri[[vascular]] pseudorosette
| style="background: #F5F5F5; padding: 5px;" |
* [[Biopsy]]
| style="background: #F5F5F5; padding: 5px;" |
* Causes an unusually persistent, continuous [[headache]] in children.
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Craniopharyngioma]]<br><ref name="pmid12407316">{{cite journal |vauthors=Brunel H, Raybaud C, Peretti-Viton P, Lena G, Girard N, Paz-Paredes A, Levrier O, Farnarier P, Manera L, Choux M |title=[Craniopharyngioma in children: MRI study of 43 cases] |language=French |journal=Neurochirurgie |volume=48 |issue=4 |pages=309–18 |date=September 2002 |pmid=12407316 |doi= |url=}}</ref><ref name="PrabhuBrown2005">{{cite journal|last1=Prabhu|first1=Vikram C.|last2=Brown|first2=Henry G.|title=The pathogenesis of craniopharyngiomas|journal=Child's Nervous System|volume=21|issue=8-9|year=2005|pages=622–627|issn=0256-7040|doi=10.1007/s00381-005-1190-9}}</ref><ref name="pmid766825">{{cite journal |vauthors=Kennedy HB, Smith RJ |title=Eye signs in craniopharyngioma |journal=Br J Ophthalmol |volume=59 |issue=12 |pages=689–95 |date=December 1975 |pmid=766825 |pmc=1017436 |doi= |url=}}</ref><ref name=":0" />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/−
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + [[Bitemporal hemianopia]]
| style="background: #F5F5F5; padding: 5px; text-align: center;" | −
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px;" |
* [[Hypopituitarism]] as a result of pressure effect on [[pituitary gland]]
| style="background: #F5F5F5; padding: 5px;" |
* [[Calcification]]
* Lobulated contour
* Motor-oil like fluid within [[tumor]]
| style="background: #F5F5F5; padding: 5px;" |
* [[Ectoderm|Ectodermal]] origin ([[Rathke's pouch|Rathkes pouch]])
* [[Calcification]] +
| style="background: #F5F5F5; padding: 5px;" |
* [[Biopsy]]
| style="background: #F5F5F5; padding: 5px;" |
* Initialy presents with lower bitemporal quadrantanopsia followed by [[Bitemporal hemianopia|bitemporal hemianopsia]] (pressure on [[Optic chiasm|optic chiasma]] from above)
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Pinealoma]]<br><ref name="pmid6625640">{{cite journal |vauthors=Ahmed SR, Shalet SM, Price DA, Pearson D |title=Human chorionic gonadotrophin secreting pineal germinoma and precocious puberty |journal=Arch. Dis. Child. |volume=58 |issue=9 |pages=743–5 |date=September 1983 |pmid=6625640 |doi= |url=}}</ref><ref name="Sano1976">{{cite journal|last1=Sano|first1=Keiji|title=Pinealoma in Children|journal=Pediatric Neurosurgery|volume=2|issue=1|year=1976|pages=67–72|issn=1016-2291|doi=10.1159/000119602}}</ref><ref name="Baggenstoss1939">{{cite journal|last1=Baggenstoss|first1=Archie H.|title=PINEALOMAS|journal=Archives of Neurology And Psychiatry|volume=41|issue=6|year=1939|pages=1187|issn=0096-6754|doi=10.1001/archneurpsyc.1939.02270180115011}}</ref>
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/−
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/−
| style="background: #F5F5F5; padding: 5px; text-align: center;" | −
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + vertical gaze palsy
| style="background: #F5F5F5; padding: 5px;" |
* B-hCG rise leads to [[precocious puberty]] in [[Male|males]]
| style="background: #F5F5F5; padding: 5px;" |
* [[Hydrocephalus]] (compression of [[cerebral aqueduct]])
| style="background: #F5F5F5; padding: 5px;" |
* Similar to [[testicular seminoma]]
| style="background: #F5F5F5; padding: 5px;" |
* [[Biopsy]]
| style="background: #F5F5F5; padding: 5px;" |
* May cause prinaud syndrome ([[Vertical gaze center|vertical gaze]] palsy, pupillary light-near dissociation, lid retraction and convergence-retraction [[nystagmus]]
|-
|}
==References==
==References==
{{reflist|2}}
{{reflist|2}}

Latest revision as of 19:36, 31 July 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]Sabawoon Mirwais, M.B.B.S, M.D.[3]

Overview

Atypical teratoid rhabdoid tumor must be differentiated from medulloblastoma, pineoblastoma, spinal primitive neuroectodermal tumors, and other pineal gland masses.[1][2]

Differentiating Atypical Teratoid Rhabdoid Tumor from other Diseases

Atypical teratoid rhabdoid tumor must be differentiated from:[1][2]

On the basis of seizure, visual disturbance, and constitutional symptoms, atypical teratoid rhabdoid tumor must be differentiated from Medulloblastoma, Pilocytic astrocytoma, Ependymoma, Craniopharyngioma, and Pinealoma.

Diseases Clinical manifestations Para-clinical findings Gold
standard
Additional findings
Symptoms Physical examination
Lab Findings MRI Immunohistopathology
Head-
ache
Seizure Visual disturbance Constitutional Focal neurological deficit
Childhood primary brain tumors
Atypical teratoid rhabdoid tumor + +/- +/- - + On CSF analysis:
  • Iso- to slight hyperintensity on T1-weighted imaging
  • Hyperintensity on T2-weighted imaging
Medulloblastoma
[3][4][5]
+ +/− +/− +
  • Homer wright rosettes
Pilocytic astrocytoma
[6][7][8]
+ +/− +/− +
Ependymoma
[9][10]
+ +/− +/− +
  • Hydrocephalus
  • Causes an unusually persistent, continuous headache in children.
Craniopharyngioma
[11][12][13][10]
+ +/− + Bitemporal hemianopia +
Pinealoma
[14][15][16]
+ +/− +/− + vertical gaze palsy
  • May cause prinaud syndrome (vertical gaze palsy, pupillary light-near dissociation, lid retraction and convergence-retraction nystagmus

References

  1. 1.0 1.1 Differential diagnosis of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015
  2. 2.0 2.1 Differential diagnosis of atypical teratoid rhabdoid tumor. Wikipedia 2015. https://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor. Accessed on December 15, 2015
  3. Dorwart, R H; Wara, W M; Norman, D; Levin, V A (1981). "Complete myelographic evaluation of spinal metastases from medulloblastoma". Radiology. 139 (2): 403–408. doi:10.1148/radiology.139.2.7220886. ISSN 0033-8419.
  4. Fruehwald-Pallamar, Julia; Puchner, Stefan B.; Rossi, Andrea; Garre, Maria L.; Cama, Armando; Koelblinger, Claus; Osborn, Anne G.; Thurnher, Majda M. (2011). "Magnetic resonance imaging spectrum of medulloblastoma". Neuroradiology. 53 (6): 387–396. doi:10.1007/s00234-010-0829-8. ISSN 0028-3940.
  5. Burger, P. C.; Grahmann, F. C.; Bliestle, A.; Kleihues, P. (1987). "Differentiation in the medulloblastoma". Acta Neuropathologica. 73 (2): 115–123. doi:10.1007/BF00693776. ISSN 0001-6322.
  6. Sathornsumetee S, Rich JN, Reardon DA (November 2007). "Diagnosis and treatment of high-grade astrocytoma". Neurol Clin. 25 (4): 1111–39, x. doi:10.1016/j.ncl.2007.07.004. PMID 17964028.
  7. Pedersen CL, Romner B (January 2013). "Current treatment of low grade astrocytoma: a review". Clin Neurol Neurosurg. 115 (1): 1–8. doi:10.1016/j.clineuro.2012.07.002. PMID 22819718.
  8. Mattle, Heinrich (2017). Fundamentals of neurology : an illustrated guide. Stuttgart New York: Thieme. ISBN 9783131364524.
  9. Yuh, E. L.; Barkovich, A. J.; Gupta, N. (2009). "Imaging of ependymomas: MRI and CT". Child's Nervous System. 25 (10): 1203–1213. doi:10.1007/s00381-009-0878-7. ISSN 0256-7040.
  10. 10.0 10.1
  11. Brunel H, Raybaud C, Peretti-Viton P, Lena G, Girard N, Paz-Paredes A, Levrier O, Farnarier P, Manera L, Choux M (September 2002). "[Craniopharyngioma in children: MRI study of 43 cases]". Neurochirurgie (in French). 48 (4): 309–18. PMID 12407316.
  12. Prabhu, Vikram C.; Brown, Henry G. (2005). "The pathogenesis of craniopharyngiomas". Child's Nervous System. 21 (8–9): 622–627. doi:10.1007/s00381-005-1190-9. ISSN 0256-7040.
  13. Kennedy HB, Smith RJ (December 1975). "Eye signs in craniopharyngioma". Br J Ophthalmol. 59 (12): 689–95. PMC 1017436. PMID 766825.
  14. Ahmed SR, Shalet SM, Price DA, Pearson D (September 1983). "Human chorionic gonadotrophin secreting pineal germinoma and precocious puberty". Arch. Dis. Child. 58 (9): 743–5. PMID 6625640.
  15. Sano, Keiji (1976). "Pinealoma in Children". Pediatric Neurosurgery. 2 (1): 67–72. doi:10.1159/000119602. ISSN 1016-2291.
  16. Baggenstoss, Archie H. (1939). "PINEALOMAS". Archives of Neurology And Psychiatry. 41 (6): 1187. doi:10.1001/archneurpsyc.1939.02270180115011. ISSN 0096-6754.

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