Difference between revisions of "Subependymal giant cell astrocytoma"

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{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      = SEGA HE.jpg
| Width      =
| Caption    = Subependymal giant cell astrocytoma [[H&E stain]].
| Synonyms  = SEGA
| Micro      =
| Subtypes  =
| LMDDx      = [[ganglioglioma]], [[pleomorphic xanthoastrocytoma]], [[glioblastoma]]
| Stains    =
| IHC        = GFAP +ve
| EM        =
| Molecular  =
| IF        =
| Gross      =
| Grossing  =
| Site      = brain - usu. wall of ventricles
| Assdx      =
| Syndromes  =
| Clinicalhx =
| Signs      =
| Symptoms  =
| Prevalence = rare - esp. in young adults
| Bloodwork  =
| Rads      =
| Endoscopy  =
| Prognosis  = good (WHO Grade I)
| Other      =
| ClinDDx    =
| Tx        =
}}
'''Subependymal giant cell astrocytoma''', abbreviated '''SEGA''', is a low-grade astrocytoma associated with [[tuberous sclerosis complex]].  
'''Subependymal giant cell astrocytoma''', abbreviated '''SEGA''', is a low-grade astrocytoma associated with [[tuberous sclerosis complex]].  


==General==
==General==
*Associated with [[tuberous sclerosis complex]] (TSC).<ref name=pmid21455842>{{Cite journal  | last1 = Grajkowska | first1 = W. | last2 = Kotulska | first2 = K. | last3 = Jurkiewicz | first3 = E. | last4 = Roszkowski | first4 = M. | last5 = Daszkiewicz | first5 = P. | last6 = Jóźwiak | first6 = S. | last7 = Matyja | first7 = E. | title = Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas. | journal = Folia Neuropathol | volume = 49 | issue = 1 | pages = 39-46 | month =  | year = 2011 | doi =  | PMID = 21455842 }}</ref>
*Associated with [[tuberous sclerosis complex]] (TSC).<ref name=pmid21455842>{{Cite journal  | last1 = Grajkowska | first1 = W. | last2 = Kotulska | first2 = K. | last3 = Jurkiewicz | first3 = E. | last4 = Roszkowski | first4 = M. | last5 = Daszkiewicz | first5 = P. | last6 = Jóźwiak | first6 = S. | last7 = Matyja | first7 = E. | title = Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas. | journal = Folia Neuropathol | volume = 49 | issue = 1 | pages = 39-46 | month =  | year = 2011 | doi =  | PMID = 21455842 }}</ref>
** 6-14% of all TSC patients will develop a SEGA.
** Sporadic examples of SEGA may represent undetected TSC patients (i.e., low-level somatic mosaicism)<ref>{{Cite journal  | last1 = Overwater | first1 = IE. | last2 = Swenker | first2 = R. | last3 = van der Ende | first3 = EL. | last4 = Hanemaayer | first4 = KB. | last5 = Hoogeveen-Westerveld | first5 = M. | last6 = van Eeghen | first6 = AM. | last7 = Lequin | first7 = MH. | last8 = van den Ouweland | first8 = AM. | last9 = Moll | first9 = HA. | title = Genotype and brain pathology phenotype in children with tuberous sclerosis complex. | journal = Eur J Hum Genet | volume = 24 | issue = 12 | pages = 1688-1695 | month = 12 | year = 2016 | doi = 10.1038/ejhg.2016.85 | PMID = 27406250 }}</ref>.
*Associated with epilepsy.
*WHO Grade I.
*WHO Grade I.


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*Well-demarcated.
*Well-demarcated.
*Often projecting into a ventricle.
*Often projecting into a ventricle.
*May be calcified
*Circumscribed tumour.


<gallery>
<gallery>
File:MRI of brain with sub-ependymal giant cell astrocytoma.jpg | SEGA in Tuberous sclerosis. (WC/AFIP)
Image:Sega_gross.jpg | SEGA. (WC/AFIP)
Image:Sega_gross.jpg | SEGA. (WC/AFIP)
</gallery>
</gallery>
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==Microscopic==
==Microscopic==
Features:<ref name=upmc_case179/><ref name=pmid9595853>{{Cite journal  | last1 = Taraszewska | first1 = A. | last2 = Kroh | first2 = H. | last3 = Majchrowski | first3 = A. | title = Subependymal giant cell astrocytoma: clinical, histologic and immunohistochemical characteristic of 3 cases. | journal = Folia Neuropathol | volume = 35 | issue = 3 | pages = 181-6 | month =  | year = 1997 | doi =  | PMID = 9595853 }}</ref>
Features:<ref name=upmc_case179/><ref name=pmid9595853>{{Cite journal  | last1 = Taraszewska | first1 = A. | last2 = Kroh | first2 = H. | last3 = Majchrowski | first3 = A. | title = Subependymal giant cell astrocytoma: clinical, histologic and immunohistochemical characteristic of 3 cases. | journal = Folia Neuropathol | volume = 35 | issue = 3 | pages = 181-6 | month =  | year = 1997 | doi =  | PMID = 9595853 }}</ref>
*Giant cells with nuclear atypia ("bizarre cells").
*Giant cells with nuclear atypia ("bizarre cells", "ganglioid cells").
**[[Vesicular nuclei]].
**[[Vesicular nuclei]].
**[[Nuclear pseudoinclusions]].<ref name=upmc179>URL: [http://path.upmc.edu/cases/case179/micro.html http://path.upmc.edu/cases/case179/micro.html]. Accessed on: 8 January 2012.</ref>
**[[Nuclear pseudoinclusions]].<ref name=upmc179>URL: [http://path.upmc.edu/cases/case179/micro.html http://path.upmc.edu/cases/case179/micro.html]. Accessed on: 8 January 2012.</ref>
*Glassy eosinophilic cytoplasm.
*Glassy eosinophilic cytoplasm.
*Elongated cells in a fibrillary background.
*Abundant [[mast cell]]s.<ref name=upmc179>URL: [http://path.upmc.edu/cases/case179/micro.html http://path.upmc.edu/cases/case179/micro.html]. Accessed on: 8 January 2012.</ref>
*Abundant [[mast cell]]s.<ref name=upmc179>URL: [http://path.upmc.edu/cases/case179/micro.html http://path.upmc.edu/cases/case179/micro.html]. Accessed on: 8 January 2012.</ref>
*Lymphocytic infiltrates.
*Endothelial proliferations and/or necrosis are not a sign of malignancy.


===Images===
===Images===
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Image:SEGA HE.jpg | SEGA. (WC/Sbrandner)
Image:SEGA HE.jpg | SEGA. (WC/Sbrandner)
Image:SEGA NF.jpg | SEGA - NF stain. (WC/Sbrandner)
Image:SEGA NF.jpg | SEGA - NF stain. (WC/Sbrandner)
Image:SEGA GFAP x100.jpg | SEGA - GFAP stain. (WC/Sbrandner)
Image:SEGA GFAP x100.jpg | SEGA - GFAP stain. (WC/jensflorian)
File:SEGA GFAP.jpg | SEGA -GFAP stain. (WC/Sbrandner)
</gallery>
</gallery>
www:
www:
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==IHC==
==IHC==
Features:<ref name=pmid9595853/>
Features:<ref name=pmid9595853/><ref name=pmid8546029>{{Cite journal  | last1 = Hirose | first1 = T. | last2 = Scheithauer | first2 = BW. | last3 = Lopes | first3 = MB. | last4 = Gerber | first4 = HA. | last5 = Altermatt | first5 = HJ. | last6 = Hukee | first6 = MJ. | last7 = VandenBerg | first7 = SR. | last8 = Charlesworth | first8 = JC. | title = Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study. | journal = Acta Neuropathol | volume = 90 | issue = 4 | pages = 387-99 | month =  | year = 1995 | doi =  | PMID = 8546029 }}</ref>
*GFAP +ve. (???)
*GFAP +ve. (50%)
*Vimentin +ve. (???)
*Vimentin +ve. (100%)
*S100 +ve. (???)
*S100 +ve. (100%)
*Neurofilament +/-ve (ganglionic component).
*Synaptophysin +/-ve (ganglionic component)..
*[[TTF-1]]  (7 out of  7).<ref name=pmid25669749>{{Cite journal  | last1 = Hewer | first1 = E. | last2 = Vajtai | first2 = I. | title = Consistent nuclear expression of thyroid transcription factor 1 in subependymal giant cell astrocytomas suggests lineage-restricted histogenesis. | journal = Clin Neuropathol | volume = 34 | issue = 3 | pages = 128-31 | month =  | year =  | doi = 10.5414/NP300818 | PMID = 25669749 }}</ref>
*Olig2-ve.<ref>{{Cite journal  | last1 = Overwater | first1 = IE. | last2 = Swenker | first2 = R. | last3 = van der Ende | first3 = EL. | last4 = Hanemaayer | first4 = KB. | last5 = Hoogeveen-Westerveld | first5 = M. | last6 = van Eeghen | first6 = AM. | last7 = Lequin | first7 = MH. | last8 = van den Ouweland | first8 = AM. | last9 = Moll | first9 = HA. | title = Genotype and brain pathology phenotype in children with tuberous sclerosis complex. | journal = Eur J Hum Genet | volume = 24 | issue = 12 | pages = 1688-1695 | month = 12 | year = 2016 | doi = 10.1038/ejhg.2016.85 | PMID = 27406250 }}</ref>
* MIB-1 usu. low (1-5%).


==See also==
==See also==
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[[Category:Diagnosis]]
[[Category:Diagnosis]]
[[Category:Neuropathology tumours]]
[[Category:Neuropathology tumours]]
[[Category:WHO grade I tumours]]

Latest revision as of 08:37, 14 October 2019

Subependymal giant cell astrocytoma
Diagnosis in short

Subependymal giant cell astrocytoma H&E stain.
Synonyms SEGA
LM DDx ganglioglioma, pleomorphic xanthoastrocytoma, glioblastoma
IHC GFAP +ve
Site brain - usu. wall of ventricles
Prevalence rare - esp. in young adults
Prognosis good (WHO Grade I)


Subependymal giant cell astrocytoma, abbreviated SEGA, is a low-grade astrocytoma associated with tuberous sclerosis complex.

General

  • Associated with tuberous sclerosis complex (TSC).[1]
    • 6-14% of all TSC patients will develop a SEGA.
    • Sporadic examples of SEGA may represent undetected TSC patients (i.e., low-level somatic mosaicism)[2].
  • Associated with epilepsy.
  • WHO Grade I.

Gross/radiology

  • Well-demarcated.
  • Often projecting into a ventricle.
  • May be calcified
  • Circumscribed tumour.

  • SEGA in Tuberous sclerosis. (WC/AFIP)

  • SEGA. (WC/AFIP)

Microscopic

Features:[3][4]

  • Giant cells with nuclear atypia ("bizarre cells", "ganglioid cells").
  • Glassy eosinophilic cytoplasm.
  • Elongated cells in a fibrillary background.
  • Abundant mast cells.[5]
  • Lymphocytic infiltrates.
  • Endothelial proliferations and/or necrosis are not a sign of malignancy.

Images

  • SEGA. (WC/Sbrandner)

  • SEGA - NF stain. (WC/Sbrandner)

  • SEGA - GFAP stain. (WC/jensflorian)

  • SEGA -GFAP stain. (WC/Sbrandner)

www:

IHC

Features:[4][6]

  • GFAP +ve. (50%)
  • Vimentin +ve. (100%)
  • S100 +ve. (100%)
  • Neurofilament +/-ve (ganglionic component).
  • Synaptophysin +/-ve (ganglionic component)..
  • TTF-1 (7 out of 7).[7]
  • Olig2-ve.[8]
  • MIB-1 usu. low (1-5%).

See also

References

  1. ↑ Grajkowska, W.; Kotulska, K.; Jurkiewicz, E.; Roszkowski, M.; Daszkiewicz, P.; Jóźwiak, S.; Matyja, E. (2011). "Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas.". Folia Neuropathol 49 (1): 39-46. PMID 21455842.
  2. ↑ Overwater, IE.; Swenker, R.; van der Ende, EL.; Hanemaayer, KB.; Hoogeveen-Westerveld, M.; van Eeghen, AM.; Lequin, MH.; van den Ouweland, AM. et al. (12 2016). "Genotype and brain pathology phenotype in children with tuberous sclerosis complex.". Eur J Hum Genet 24 (12): 1688-1695. doi:10.1038/ejhg.2016.85. PMID 27406250.
  3. ↑ 3.0 3.1 URL: http://path.upmc.edu/cases/case179.html. Accessed on: 29 July 2011.
  4. ↑ 4.0 4.1 Taraszewska, A.; Kroh, H.; Majchrowski, A. (1997). "Subependymal giant cell astrocytoma: clinical, histologic and immunohistochemical characteristic of 3 cases.". Folia Neuropathol 35 (3): 181-6. PMID 9595853.
  5. ↑ 5.0 5.1 URL: http://path.upmc.edu/cases/case179/micro.html. Accessed on: 8 January 2012.
  6. ↑ Hirose, T.; Scheithauer, BW.; Lopes, MB.; Gerber, HA.; Altermatt, HJ.; Hukee, MJ.; VandenBerg, SR.; Charlesworth, JC. (1995). "Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study.". Acta Neuropathol 90 (4): 387-99. PMID 8546029.
  7. ↑ Hewer, E.; Vajtai, I.. "Consistent nuclear expression of thyroid transcription factor 1 in subependymal giant cell astrocytomas suggests lineage-restricted histogenesis.". Clin Neuropathol 34 (3): 128-31. doi:10.5414/NP300818. PMID 25669749.
  8. ↑ Overwater, IE.; Swenker, R.; van der Ende, EL.; Hanemaayer, KB.; Hoogeveen-Westerveld, M.; van Eeghen, AM.; Lequin, MH.; van den Ouweland, AM. et al. (12 2016). "Genotype and brain pathology phenotype in children with tuberous sclerosis complex.". Eur J Hum Genet 24 (12): 1688-1695. doi:10.1038/ejhg.2016.85. PMID 27406250.
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