Difference between revisions of "Ganglioglioma"

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#redirect [[Neuropathology_tumours#Ganglioglioma]]
{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      = Anaplastic ganglioglioma HE.jpg
| Width      =
| Caption    =
| Synonyms  =
| Micro      =
| Subtypes  =
| LMDDx      = piloid gliosis, [[pilocytic astrocytoma]], [[DNT]]
| Stains    = PAS-D +ve (eosinophilic granular bodies)
| IHC        = GFAP +ve, Synapto +ve
| EM        =
| Molecular  =
| IF        =
| Gross      = usually temporal +/-cystic
| Grossing  =
| Site      = brain - usu. supratentorial
| Assdx      =
| Syndromes  = associated with epilepsy
| Clinicalhx =
| Signs      =
| Symptoms  =
| Prevalence = rare - esp. in children
| Bloodwork  =
| Rads      =
| Endoscopy  =
| Prognosis  = good (WHO Grade I)
| Other      =
| ClinDDx    =
| Tx        =
}}
Ganglioglioma is a epilepsy-associated glioneuronal tumour with benign course. '''Not''' to be confused with ''[[ganglioneuroma]]''.
 
====General====
*Gangliolioma: Grade I WHO mixed neuronal-glial tumour (ICD-O code: 9505/1).
*Anaplastic ganglioglioma: Grade III (ICD-O: 9505/3)
*Rare (approx. 0.5% of all CNS tumors).
*Usu. temporal lobe.
*Predominantly children (mean age: 9 years).
*Recognized as a cause of [[epilepsy]].<ref name=pmid12125968>{{Cite journal  | last1 = Im | first1 = SH. | last2 = Chung | first2 = CK. | last3 = Cho | first3 = BK. | last4 = Lee | first4 = SK. | title = Supratentorial ganglioglioma and epilepsy: postoperative seizure outcome. | journal = J Neurooncol | volume = 57 | issue = 1 | pages = 59-66 | month = Mar | year = 2002 | doi =  | PMID = 12125968 }}</ref>
*Favourable prognosis (survival rates up to 97%)
**Anaplastic ganglioglioma have a recurrence risk of 69%-100% and median OS: 27months<ref>{{Cite journal  | last1 = Terrier | first1 = LM. | last2 = Bauchet | first2 = L. | last3 = Rigau | first3 = V. | last4 = Amelot | first4 = A. | last5 = Zouaoui | first5 = S. | last6 = Filipiak | first6 = I. | last7 = Caille | first7 = A. | last8 = Almairac | first8 = F. | last9 = Aubriot-Lorton | first9 = MH. | title = Natural course and prognosis of anaplastic gangliogliomas: a multicenter retrospective study of 43 cases from the French Brain Tumor Database. | journal = Neuro Oncol | volume = 19 | issue = 5 | pages = 678-688 | month = 05 | year = 2017 | doi = 10.1093/neuonc/now186 | PMID = 28453747 }}</ref><ref>{{Cite journal  | last1 = Zanello | first1 = M. | last2 = Pages | first2 = M. | last3 = Tauziède-Espariat | first3 = A. | last4 = Saffroy | first4 = R. | last5 = Puget | first5 = S. | last6 = Lacroix | first6 = L. | last7 = Dezamis | first7 = E. | last8 = Devaux | first8 = B. | last9 = Chrétien | first9 = F. | title = Clinical, Imaging, Histopathological and Molecular Characterization of Anaplastic Ganglioglioma. | journal = J Neuropathol Exp Neurol | volume = 75 | issue = 10 | pages = 971-980 | month = Oct | year = 2016 | doi = 10.1093/jnen/nlw074 | PMID = 27539475 }}</ref>
 
==Imaging==
*Well-defined, T2-hyperintense.
*Strong CM enhancement.
*May contain cysts.
*Associated with temporal lobe.
 
==Gross==
*Circumscribed lesion.
*Usu. contrast enhancing.
*Solid, but intracortical cysts may be present.
*Little mass effect.
 
==Microscopic==
 
====Microscopic====
Features:
*Dysplastic neurons.
**Out of regular architecture / heterotopic location.
**Cytomegaly
**Abnormal clustering
**Binucleated (very occassionally).
**Perimembranous Nissl aggreation.
*Atypical glia (ie neoplastic).
*Eosinophilic granular bodies (more common than rosenthal fibers).
*Dystrophic calcification.
*Prominent capillary network.
*Lymphocytic cuffing.
*May contain some reticulin.
*Glial component may resemble:
**Fibrillary astrocytoma.
**Oligodendroglioma.
**Pilocytic astrocytoma.
 
Anaplastic ganglioglioma:
*Brisk mitotic activity
*Necrosis
 
====IHC====
*Neurons:
**[[MAP2]] +ve
**Synaptophysin +ve
***Perikaryal surface immunoreactivity for synaptophysin.<ref name="pmid8246055">{{cite journal |authors=Lang FF, Epstein FJ, Ransohoff J, Allen JC, Wisoff J, Abbott IR, Miller DC |title=Central nervous system gangliogliomas. Part 2: Clinical outcome |journal=J. Neurosurg. |volume=79 |issue=6 |pages=867–73 |date=December 1993 |pmid=8246055 |doi=10.3171/jns.1993.79.6.0867 |url=}}</ref>
***This is however also seen in reactive changes.<ref name="pmid9591724">{{cite journal |authors=Quinn B |title=Synaptophysin staining in normal brain: importance for diagnosis of ganglioglioma |journal=Am. J. Surg. Pathol. |volume=22 |issue=5 |pages=550–6 |date=May 1998 |pmid=9591724 |doi=10.1097/00000478-199805000-00005 |url=}}</ref>
** Neurofilament +ve
** Chromogranin +ve
*Glia:
**CD34+/-ve
*BRAF V600E +ve (approx. 25%, mainly ganglion cells).
*MAP2: usu. absent.
*MIB-1 (low, but resembles proliferative tumor component).
 
====Molecular====
*BRAF V600E-mutated(approx. 25%).<ref>{{Cite journal  | last1 = Schindler | first1 = G. | last2 = Capper | first2 = D. | last3 = Meyer | first3 = J. | last4 = Janzarik | first4 = W. | last5 = Omran | first5 = H. | last6 = Herold-Mende | first6 = C. | last7 = Schmieder | first7 = K. | last8 = Wesseling | first8 = P. | last9 = Mawrin | first9 = C. | title = Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. | journal = Acta Neuropathol | volume = 121 | issue = 3 | pages = 397-405 | month = Mar | year = 2011 | doi = 10.1007/s00401-011-0802-6 | PMID = 21274720 }}</ref>
**BRAF V600E antibody stains especially neuronal cells.<ref>{{Cite journal  | last1 = Koelsche | first1 = C. | last2 = Wöhrer | first2 = A. | last3 = Jeibmann | first3 = A. | last4 = Schittenhelm | first4 = J. | last5 = Schindler | first5 = G. | last6 = Preusser | first6 = M. | last7 = Lasitschka | first7 = F. | last8 = von Deimling | first8 = A. | last9 = Capper | first9 = D. | title = Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells. | journal = Acta Neuropathol | volume = 125 | issue = 6 | pages = 891-900 | month = Jun | year = 2013 | doi = 10.1007/s00401-013-1100-2 | PMID = 23435618 }}</ref>
*IDH1/2 wt.
*No 1p/19q codeletion.
*Usu. Chr. 7 gain.
*Rare cases with KIAA1459-BRAF fusion.<ref>{{Cite journal  | last1 = Pekmezci | first1 = M. | last2 = Villanueva-Meyer | first2 = JE. | last3 = Goode | first3 = B. | last4 = Van Ziffle | first4 = J. | last5 = Onodera | first5 = C. | last6 = Grenert | first6 = JP. | last7 = Bastian | first7 = BC. | last8 = Chamyan | first8 = G. | last9 = Maher | first9 = OM. | title = The genetic landscape of ganglioglioma. | journal = Acta Neuropathol Commun | volume = 6 | issue = 1 | pages = 47 | month = 06 | year = 2018 | doi = 10.1186/s40478-018-0551-z | PMID = 29880043 }}</ref>
** DDx: consider pilocytic astrocytoma with ganglioglioma component. <ref>{{Cite journal  | last1 = Mesturoux | first1 = L. | last2 = Durand | first2 = K. | last3 = Pommepuy | first3 = I. | last4 = Robert | first4 = S. | last5 = Caire | first5 = F. | last6 = Labrousse | first6 = F. | title = Molecular Analysis of Tumor Cell Components in Pilocytic Astrocytomas, Gangliogliomas, and Oligodendrogliomas. | journal = Appl Immunohistochem Mol Morphol | volume = 24 | issue = 7 | pages = 496-500 | month = Aug | year = 2016 | doi = 10.1097/PAI.0000000000000288 | PMID = 27389560 }}</ref>
*CDKN2A deletions, ATRX loss and TERT promotor mutations in anaplastic ganglioglioma.<ref>{{Cite journal  | last1 = Zanello | first1 = M. | last2 = Pages | first2 = M. | last3 = Tauziède-Espariat | first3 = A. | last4 = Saffroy | first4 = R. | last5 = Puget | first5 = S. | last6 = Lacroix | first6 = L. | last7 = Dezamis | first7 = E. | last8 = Devaux | first8 = B. | last9 = Chrétien | first9 = F. | title = Clinical, Imaging, Histopathological and Molecular Characterization of Anaplastic Ganglioglioma. | journal = J Neuropathol Exp Neurol | volume = 75 | issue = 10 | pages = 971-980 | month = Oct | year = 2016 | doi = 10.1093/jnen/nlw074 | PMID = 27539475 }}</ref>
**DD: consider anaplastic astrocytoma with piloid features (similiar molecular profile).<ref>{{Cite journal  | last1 = Reinhardt | first1 = A. | last2 = Stichel | first2 = D. | last3 = Schrimpf | first3 = D. | last4 = Sahm | first4 = F. | last5 = Korshunov | first5 = A. | last6 = Reuss | first6 = DE. | last7 = Koelsche | first7 = C. | last8 = Huang | first8 = K. | last9 = Wefers | first9 = AK. | title = Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations. | journal = Acta Neuropathol | volume = 136 | issue = 2 | pages = 273-291 | month = Aug | year = 2018 | doi = 10.1007/s00401-018-1837-8 | PMID = 29564591 }}
</ref>
*H3F3A wildtype.
**DDx: consider [[Diffuse hemispheric glioma, H3 G34-mutant]] (rare cases may contain dysplastic ganglion cells).<ref>{{Cite journal  | last1 = Andreiuolo | first1 = F. | last2 = Lisner | first2 = T. | last3 = Zlocha | first3 = J. | last4 = Kramm | first4 = C. | last5 = Koch | first5 = A. | last6 = Bison | first6 = B. | last7 = Gareton | first7 = A. | last8 = Zanello | first8 = M. | last9 = Waha | first9 = A. | title = H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components. | journal = Acta Neuropathol Commun | volume = 7 | issue = 1 | pages = 78 | month = May | year = 2019 | doi = 10.1186/s40478-019-0731-5 | PMID = 31109382 }}</ref>
*Rare cases with co-occurrence of K27M mutation.<ref>{{Cite journal  | last1 = Pagès | first1 = M. | last2 = Beccaria | first2 = K. | last3 = Boddaert | first3 = N. | last4 = Saffroy | first4 = R. | last5 = Besnard | first5 = A. | last6 = Castel | first6 = D. | last7 = Fina | first7 = F. | last8 = Barets | first8 = D. | last9 = Barret | first9 = E. | title = Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma. | journal = Brain Pathol | volume =  | issue =  | pages =  | month = Dec | year = 2016 | doi = 10.1111/bpa.12473 | PMID = 27984673 }}</ref>
 
===Images===
 
<gallery>
File:Ganglioglioma lymphocytic cuffing PAS.jpg | Lymphocytic cuffing in ganglioglioma (WC/jensflorian)
File:Ganglioglioma calcification.jpg | Calcification in ganglioglioma (WC/jensflorian)
File:Ganglioglioma Cd34 x200.jpg | CD34 immunostain in ganglioglioma (WC/jensflorian)
File:Anaplastic ganglioglioma HE.jpg | Pleomorphic ganglion cells in ganglioglioma (WC/jensflorian)
</gallery>
 
==Prognosis==
*Very good (10-year OS: 97%)
*Primary treatment: surgery.
**Seizure free outcome: 81%.
**Incomplete resection as major factor for persisting epilepsia.<ref>{{Cite journal  | last1 = Devaux | first1 = B. | last2 = Chassoux | first2 = F. | last3 = Landré | first3 = E. | last4 = Turak | first4 = B. | last5 = Laurent | first5 = A. | last6 = Zanello | first6 = M. | last7 = Mellerio | first7 = C. | last8 = Varlet | first8 = P. | title = Surgery for dysembryoplastic neuroepithelial tumors and gangliogliomas in eloquent areas. Functional results and seizure control. | journal = Neurochirurgie | volume = 63 | issue = 3 | pages = 227-234 | month = Jun | year = 2017 | doi = 10.1016/j.neuchi.2016.10.009 | PMID = 28506485 }}</ref>
 
====DDx:====
*[[DNT]].
*[[Oligodendroglioma]].
*[[PXA]].
*Desmoplastic infantile astrocytoma and ganglioglioma.
*Cortical tuber.
*Trapped cortical neurons in diffuse astrocytoma.
*Papillary glioneuronal tumor.
 
==See also==
*[[Neuropathology tumours]].
*[[Pilocytic Astrocytoma]].
 
==References==
{{Reflist|2}}


[[Category:Diagnosis]]
[[Category:Diagnosis]]
[[Category:Neuropathology tumours]]

Latest revision as of 09:01, 4 April 2022

Ganglioglioma
Diagnosis in short
LM DDx piloid gliosis, pilocytic astrocytoma, DNT
Stains PAS-D +ve (eosinophilic granular bodies)
IHC GFAP +ve, Synapto +ve
Gross usually temporal +/-cystic
Site brain - usu. supratentorial
Syndromes associated with epilepsy
Prevalence rare - esp. in children
Prognosis good (WHO Grade I)

Ganglioglioma is a epilepsy-associated glioneuronal tumour with benign course. Not to be confused with ganglioneuroma.

General

  • Gangliolioma: Grade I WHO mixed neuronal-glial tumour (ICD-O code: 9505/1).
  • Anaplastic ganglioglioma: Grade III (ICD-O: 9505/3)
  • Rare (approx. 0.5% of all CNS tumors).
  • Usu. temporal lobe.
  • Predominantly children (mean age: 9 years).
  • Recognized as a cause of epilepsy.[1]
  • Favourable prognosis (survival rates up to 97%)
    • Anaplastic ganglioglioma have a recurrence risk of 69%-100% and median OS: 27months[2][3]

Imaging

  • Well-defined, T2-hyperintense.
  • Strong CM enhancement.
  • May contain cysts.
  • Associated with temporal lobe.

Gross

  • Circumscribed lesion.
  • Usu. contrast enhancing.
  • Solid, but intracortical cysts may be present.
  • Little mass effect.

Microscopic

Microscopic

Features:

  • Dysplastic neurons.
    • Out of regular architecture / heterotopic location.
    • Cytomegaly
    • Abnormal clustering
    • Binucleated (very occassionally).
    • Perimembranous Nissl aggreation.
  • Atypical glia (ie neoplastic).
  • Eosinophilic granular bodies (more common than rosenthal fibers).
  • Dystrophic calcification.
  • Prominent capillary network.
  • Lymphocytic cuffing.
  • May contain some reticulin.
  • Glial component may resemble:
    • Fibrillary astrocytoma.
    • Oligodendroglioma.
    • Pilocytic astrocytoma.

Anaplastic ganglioglioma:

  • Brisk mitotic activity
  • Necrosis

IHC

  • Neurons:
    • MAP2 +ve
    • Synaptophysin +ve
      • Perikaryal surface immunoreactivity for synaptophysin.[4]
      • This is however also seen in reactive changes.[5]
    • Neurofilament +ve
    • Chromogranin +ve
  • Glia:
    • CD34+/-ve
  • BRAF V600E +ve (approx. 25%, mainly ganglion cells).
  • MAP2: usu. absent.
  • MIB-1 (low, but resembles proliferative tumor component).

Molecular

  • BRAF V600E-mutated(approx. 25%).[6]
    • BRAF V600E antibody stains especially neuronal cells.[7]
  • IDH1/2 wt.
  • No 1p/19q codeletion.
  • Usu. Chr. 7 gain.
  • Rare cases with KIAA1459-BRAF fusion.[8]
    • DDx: consider pilocytic astrocytoma with ganglioglioma component. [9]
  • CDKN2A deletions, ATRX loss and TERT promotor mutations in anaplastic ganglioglioma.[10]
    • DD: consider anaplastic astrocytoma with piloid features (similiar molecular profile).[11]
  • H3F3A wildtype.
  • Rare cases with co-occurrence of K27M mutation.[13]

Images

  • Lymphocytic cuffing in ganglioglioma (WC/jensflorian)

  • Calcification in ganglioglioma (WC/jensflorian)

  • CD34 immunostain in ganglioglioma (WC/jensflorian)

  • Pleomorphic ganglion cells in ganglioglioma (WC/jensflorian)

Prognosis

  • Very good (10-year OS: 97%)
  • Primary treatment: surgery.
    • Seizure free outcome: 81%.
    • Incomplete resection as major factor for persisting epilepsia.[14]

DDx:

  • DNT.
  • Oligodendroglioma.
  • PXA.
  • Desmoplastic infantile astrocytoma and ganglioglioma.
  • Cortical tuber.
  • Trapped cortical neurons in diffuse astrocytoma.
  • Papillary glioneuronal tumor.

See also

References

  1. ↑ Im, SH.; Chung, CK.; Cho, BK.; Lee, SK. (Mar 2002). "Supratentorial ganglioglioma and epilepsy: postoperative seizure outcome.". J Neurooncol 57 (1): 59-66. PMID 12125968.
  2. ↑ Terrier, LM.; Bauchet, L.; Rigau, V.; Amelot, A.; Zouaoui, S.; Filipiak, I.; Caille, A.; Almairac, F. et al. (05 2017). "Natural course and prognosis of anaplastic gangliogliomas: a multicenter retrospective study of 43 cases from the French Brain Tumor Database.". Neuro Oncol 19 (5): 678-688. doi:10.1093/neuonc/now186. PMID 28453747.
  3. ↑ Zanello, M.; Pages, M.; Tauziède-Espariat, A.; Saffroy, R.; Puget, S.; Lacroix, L.; Dezamis, E.; Devaux, B. et al. (Oct 2016). "Clinical, Imaging, Histopathological and Molecular Characterization of Anaplastic Ganglioglioma.". J Neuropathol Exp Neurol 75 (10): 971-980. doi:10.1093/jnen/nlw074. PMID 27539475.
  4. ↑ Lang FF, Epstein FJ, Ransohoff J, Allen JC, Wisoff J, Abbott IR, Miller DC (December 1993). "Central nervous system gangliogliomas. Part 2: Clinical outcome". J. Neurosurg. 79 (6): 867–73. doi:10.3171/jns.1993.79.6.0867. PMID 8246055.
  5. ↑ Quinn B (May 1998). "Synaptophysin staining in normal brain: importance for diagnosis of ganglioglioma". Am. J. Surg. Pathol. 22 (5): 550–6. doi:10.1097/00000478-199805000-00005. PMID 9591724.
  6. ↑ Schindler, G.; Capper, D.; Meyer, J.; Janzarik, W.; Omran, H.; Herold-Mende, C.; Schmieder, K.; Wesseling, P. et al. (Mar 2011). "Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma.". Acta Neuropathol 121 (3): 397-405. doi:10.1007/s00401-011-0802-6. PMID 21274720.
  7. ↑ Koelsche, C.; Wöhrer, A.; Jeibmann, A.; Schittenhelm, J.; Schindler, G.; Preusser, M.; Lasitschka, F.; von Deimling, A. et al. (Jun 2013). "Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells.". Acta Neuropathol 125 (6): 891-900. doi:10.1007/s00401-013-1100-2. PMID 23435618.
  8. ↑ Pekmezci, M.; Villanueva-Meyer, JE.; Goode, B.; Van Ziffle, J.; Onodera, C.; Grenert, JP.; Bastian, BC.; Chamyan, G. et al. (06 2018). "The genetic landscape of ganglioglioma.". Acta Neuropathol Commun 6 (1): 47. doi:10.1186/s40478-018-0551-z. PMID 29880043.
  9. ↑ Mesturoux, L.; Durand, K.; Pommepuy, I.; Robert, S.; Caire, F.; Labrousse, F. (Aug 2016). "Molecular Analysis of Tumor Cell Components in Pilocytic Astrocytomas, Gangliogliomas, and Oligodendrogliomas.". Appl Immunohistochem Mol Morphol 24 (7): 496-500. doi:10.1097/PAI.0000000000000288. PMID 27389560.
  10. ↑ Zanello, M.; Pages, M.; Tauziède-Espariat, A.; Saffroy, R.; Puget, S.; Lacroix, L.; Dezamis, E.; Devaux, B. et al. (Oct 2016). "Clinical, Imaging, Histopathological and Molecular Characterization of Anaplastic Ganglioglioma.". J Neuropathol Exp Neurol 75 (10): 971-980. doi:10.1093/jnen/nlw074. PMID 27539475.
  11. ↑ Reinhardt, A.; Stichel, D.; Schrimpf, D.; Sahm, F.; Korshunov, A.; Reuss, DE.; Koelsche, C.; Huang, K. et al. (Aug 2018). "Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations.". Acta Neuropathol 136 (2): 273-291. doi:10.1007/s00401-018-1837-8. PMID 29564591.
  12. ↑ Andreiuolo, F.; Lisner, T.; Zlocha, J.; Kramm, C.; Koch, A.; Bison, B.; Gareton, A.; Zanello, M. et al. (May 2019). "H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components.". Acta Neuropathol Commun 7 (1): 78. doi:10.1186/s40478-019-0731-5. PMID 31109382.
  13. ↑ Pagès, M.; Beccaria, K.; Boddaert, N.; Saffroy, R.; Besnard, A.; Castel, D.; Fina, F.; Barets, D. et al. (Dec 2016). "Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma.". Brain Pathol. doi:10.1111/bpa.12473. PMID 27984673.
  14. ↑ Devaux, B.; Chassoux, F.; Landré, E.; Turak, B.; Laurent, A.; Zanello, M.; Mellerio, C.; Varlet, P. (Jun 2017). "Surgery for dysembryoplastic neuroepithelial tumors and gangliogliomas in eloquent areas. Functional results and seizure control.". Neurochirurgie 63 (3): 227-234. doi:10.1016/j.neuchi.2016.10.009. PMID 28506485.
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