Difference between revisions of "Ganglioglioma"

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#redirect [[Neuropathology_tumours#Ganglioglioma]]
{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      =
| 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        =
}}
:'''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%)
**Insufficient data für anaplastic ganglioglioma.
 
 
 
==Imaging==
*Well-defined, T2-hyperintense.
*Strong CM enhancement.
*May contain cysts.
*Associated with midline structures.
 
==Gross==
Features:<ref name=Ref_PSNP82>{{Ref PSNP|82}}</ref>
*Usually well-circumscribed, soft.
*Can be cystic with mural nodule.
*Optic gliomas may present as fusiform mass.
*Occ. calcium deposits and hemosiderin.
 
==Microscopic==
Features:<ref name=Ref_PSNP82-4>{{Ref PSNP|82-4}}</ref>
*Classically biphasic (though either may be absent):
*#Fibrillar.
*#Microcystic/loose.
*Hair-like fibres ~ 1 micrometer; ''pilo-'' = hair.<ref>URL: [http://dictionary.reference.com/browse/pilo- http://dictionary.reference.com/browse/pilo-]. Accessed on: 24 November 2010.</ref>
**Best seen on smear or with GFAP [[IHC]].
*Rosenthal fibres - '''key feature'''.
**May be rare.  Not pathognomonic (see below).
*Eosinophilic granular bodies.
*Low cellularity - when compared to medulloblastoma and ependymoma.
 
Notes:
*+/-Microvascular proliferation.
*+/-Focal necrosis.
**Necrosis with pseudopalisading more likely glioblastoma.
*+/-Mitoses - not significant in the context of the Dx.
 
DDx (of Rosenthal fibers):<ref>Munoz D. 9 Mar 2009.</ref>
*Chronic reactive gliosis.
*Subependymoma.
*Pilocytic astrocytoma.
*Ganglioglioma.
 
DDx of pilocystic astrocytoma (brief):
*Piloid gliosis (esp. in sellar lesions).
*[[Oligodendroglioma]].
*[[Glioblastoma]] (uncommon - but important).
*Tanycytic [[Ependymoma]]
*Pilocytic tumor components may be found in [[Ganglioglioma]], [[DNET]], [[RGNT]]
 
===Images===
====Smears====
<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>
====Sections====
<gallery>
Image:Rosenthal_HE_40x.jpg | Rosenthal fibres. (WC)
Image:Pilocytic astrocytoma cell pleomorphism.jpg | Occasional pleomorphism. (WC)
Image:Pilocytic astrocytoma endothelial proliferations.jpg | Microvascular proliferation. (WC)
</gallery>
www:
*[http://moon.ouhsc.edu/kfung/jty1/neurotest/Q19-Ans.htm Rosenthal fibre (ouhsc.edu)].
*[http://path.upmc.edu/cases/case162.html Pilocytic astrocytoma (upmc.edu)].
*[http://path.upmc.edu/cases/case90.html Pilocytic astrocytoma - another case (upmc.edu)].
*[http://path.upmc.edu/cases/case195/images/figure3b.jpg Pilocytic astrocytoma - pennies on a plate (upmc.edu)].<ref>URL: [http://path.upmc.edu/cases/case195.html http://path.upmc.edu/cases/case195.html]. Accessed on: 8 January 2012.</ref>
*[http://path.upmc.edu/cases/case397.html Pilocytic astrocytoma (upmc.edu)].
 
==Stains==
*PAS-D: eosinophilic granular bodies +ve.
 
==IHC==
Features:<ref name=Ref_PSNP84>{{Ref PSNP|84}}</ref>
*GFAP +ve (fibres).
*CD68: may have a significant macrophage component.
*KI-67: may be "high" (~20% ???).
*Olig 2: Usually strongly present.<ref name=pmid21193945>{{Cite journal  | last1 = Otero | first1 = JJ. | last2 = Rowitch | first2 = D. | last3 = Vandenberg | first3 = S. | title = OLIG2 is differentially expressed in pediatric astrocytic and in ependymal neoplasms. | journal = J Neurooncol | volume = 104 | issue = 2 | pages = 423-38 | month = Sep | year = 2011 | doi = 10.1007/s11060-010-0509-x | PMID = 21193945 }}</ref>
*[[IDH1]] (R132H) -ve.
*[[H3F3A]] (K27M) -ve.
 
==Molecular==
* Almost all alteration associated with the MAPK pathway.<ref>{{Cite journal  | last1 = Collins | first1 = VP. | last2 = Jones | first2 = DT. | last3 = Giannini | first3 = C. | title = Pilocytic astrocytoma: pathology, molecular mechanisms and markers. | journal = Acta Neuropathol | volume = 129 | issue = 6 | pages = 775-88 | month = Jun | year = 2015 | doi = 10.1007/s00401-015-1410-7 | PMID = 25792358 }}</ref>
* KIAA1549-BRAF fusion transcripts most common in sporadic PA (up to 2/3 of all cases).
**DDx: Fusion reported in rare Diffuse Leptomeingeal Glioneuronal Tumors and Oligodendroglioma.
* Rarely BRAF, KRAS or FGFR1 mutations, NTRK2, SRGAP3-RAF1 or FAM131B-BRAF fusions.<ref>{{Cite journal  | last1 = Jones | first1 = DT. | last2 = Hutter | first2 = B. | last3 = Jäger | first3 = N. | last4 = Korshunov | first4 = A. | last5 = Kool | first5 = M. | last6 = Warnatz | first6 = HJ. | last7 = Zichner | first7 = T. | last8 = Lambert | first8 = SR. | last9 = Ryzhova | first9 = M. | title = Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. | journal = Nat Genet | volume = 45 | issue = 8 | pages = 927-32 | month = Aug | year = 2013 | doi = 10.1038/ng.2682 | PMID = 23817572 }}</ref><ref>{{Cite journal  | last1 = Cin | first1 = H. | last2 = Meyer | first2 = C. | last3 = Herr | first3 = R. | last4 = Janzarik | first4 = WG. | last5 = Lambert | first5 = S. | last6 = Jones | first6 = DT. | last7 = Jacob | first7 = K. | last8 = Benner | first8 = A. | last9 = Witt | first9 = H. | title = Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma. | journal = Acta Neuropathol | volume = 121 | issue = 6 | pages = 763-74 | month = Jun | year = 2011 | doi = 10.1007/s00401-011-0817-z | PMID = 21424530 }}</ref>
*Up to 15% of all [[NF1]] patients develop a PA ("optic glioma" as predilection).<ref>{{Cite journal  | last1 = Friedrich | first1 = RE. | last2 = Nuding | first2 = MA. | title = Optic Pathway Glioma and Cerebral Focal Abnormal Signal Intensity in Patients with Neurofibromatosis Type 1: Characteristics, Treatment Choices and Follow-up in 134 Affected Individuals and a Brief Review of the Literature. | journal = Anticancer Res | volume = 36 | issue = 8 | pages = 4095-121 | month = Aug | year = 2016 | doi =  | PMID = 27466519 }}</ref>
*Rare reports of PA in Noonan-Syndrome (PTPN11 mutation).<ref>{{Cite journal  | last1 = Jones | first1 = DT. | last2 = Hutter | first2 = B. | last3 = Jäger | first3 = N. | last4 = Korshunov | first4 = A. | last5 = Kool | first5 = M. | last6 = Warnatz | first6 = HJ. | last7 = Zichner | first7 = T. | last8 = Lambert | first8 = SR. | last9 = Ryzhova | first9 = M. | title = Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. | journal = Nat Genet | volume = 45 | issue = 8 | pages = 927-32 | month = Aug | year = 2013 | doi = 10.1038/ng.2682 | PMID = 23817572 }}</ref>
 
==Prognosis==
*Excellent (10-year OS: 90%)
*In thalamic/chiasmatic region not so good (incomplete resection, often [[Pilomyxoid astrocytoma]]).
*Primary treatment: surgery. Incomplete resection: RT has to be considered.
**Chx is given in rare cases that are still progredient<ref>{{Cite journal  | last1 = Metts | first1 = RD. | last2 = Bartynski | first2 = W. | last3 = Welsh | first3 = CT. | last4 = Kinsman | first4 = S. | last5 = Bredlau | first5 = AL. | title = Bevacizumab Therapy for Pilomyxoid Astrocytoma. | journal = J Pediatr Hematol Oncol | volume =  | issue =  | pages =  | month = Mar | year = 2017 | doi = 10.1097/MPH.0000000000000824 | PMID = 28338567 }}</ref>
 
==See also==
*[[Neuropathology tumours]].
*[[Pilocytic Astrocytoma]].
 
==References==
{{Reflist|2}}


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

Revision as of 08:12, 14 September 2017

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)
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%)
    • Insufficient data für anaplastic ganglioglioma.


Imaging

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

Gross

Features:[2]

  • Usually well-circumscribed, soft.
  • Can be cystic with mural nodule.
  • Optic gliomas may present as fusiform mass.
  • Occ. calcium deposits and hemosiderin.

Microscopic

Features:[3]

  • Classically biphasic (though either may be absent):
    1. Fibrillar.
    2. Microcystic/loose.
  • Hair-like fibres ~ 1 micrometer; pilo- = hair.[4]
    • Best seen on smear or with GFAP IHC.
  • Rosenthal fibres - key feature.
    • May be rare. Not pathognomonic (see below).
  • Eosinophilic granular bodies.
  • Low cellularity - when compared to medulloblastoma and ependymoma.

Notes:

  • +/-Microvascular proliferation.
  • +/-Focal necrosis.
    • Necrosis with pseudopalisading more likely glioblastoma.
  • +/-Mitoses - not significant in the context of the Dx.

DDx (of Rosenthal fibers):[5]

  • Chronic reactive gliosis.
  • Subependymoma.
  • Pilocytic astrocytoma.
  • Ganglioglioma.

DDx of pilocystic astrocytoma (brief):

Images

Smears

  • Lymphocytic cuffing in ganglioglioma (WC/jensflorian)

  • Calcification in ganglioglioma (WC/jensflorian)

  • CD34 immunostain in ganglioglioma (WC/jensflorian)

  • Pleomorphic ganglion cells in ganglioglioma (WC/jensflorian)

Sections

  • Rosenthal fibres. (WC)

  • Occasional pleomorphism. (WC)

  • Microvascular proliferation. (WC)

www:

Stains

  • PAS-D: eosinophilic granular bodies +ve.

IHC

Features:[7]

  • GFAP +ve (fibres).
  • CD68: may have a significant macrophage component.
  • KI-67: may be "high" (~20% ???).
  • Olig 2: Usually strongly present.[8]
  • IDH1 (R132H) -ve.
  • H3F3A (K27M) -ve.

Molecular

  • Almost all alteration associated with the MAPK pathway.[9]
  • KIAA1549-BRAF fusion transcripts most common in sporadic PA (up to 2/3 of all cases).
    • DDx: Fusion reported in rare Diffuse Leptomeingeal Glioneuronal Tumors and Oligodendroglioma.
  • Rarely BRAF, KRAS or FGFR1 mutations, NTRK2, SRGAP3-RAF1 or FAM131B-BRAF fusions.[10][11]
  • Up to 15% of all NF1 patients develop a PA ("optic glioma" as predilection).[12]
  • Rare reports of PA in Noonan-Syndrome (PTPN11 mutation).[13]

Prognosis

  • Excellent (10-year OS: 90%)
  • In thalamic/chiasmatic region not so good (incomplete resection, often Pilomyxoid astrocytoma).
  • Primary treatment: surgery. Incomplete resection: RT has to be considered.
    • Chx is given in rare cases that are still progredient[14]

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. ↑ Perry, Arie; Brat, Daniel J. (2010). Practical Surgical Neuropathology: A Diagnostic Approach: A Volume in the Pattern Recognition series (1st ed.). Churchill Livingstone. pp. 82. ISBN 978-0443069826.
  3. ↑ Perry, Arie; Brat, Daniel J. (2010). Practical Surgical Neuropathology: A Diagnostic Approach: A Volume in the Pattern Recognition series (1st ed.). Churchill Livingstone. pp. 82-4. ISBN 978-0443069826.
  4. ↑ URL: http://dictionary.reference.com/browse/pilo-. Accessed on: 24 November 2010.
  5. ↑ Munoz D. 9 Mar 2009.
  6. ↑ URL: http://path.upmc.edu/cases/case195.html. Accessed on: 8 January 2012.
  7. ↑ Perry, Arie; Brat, Daniel J. (2010). Practical Surgical Neuropathology: A Diagnostic Approach: A Volume in the Pattern Recognition series (1st ed.). Churchill Livingstone. pp. 84. ISBN 978-0443069826.
  8. ↑ Otero, JJ.; Rowitch, D.; Vandenberg, S. (Sep 2011). "OLIG2 is differentially expressed in pediatric astrocytic and in ependymal neoplasms.". J Neurooncol 104 (2): 423-38. doi:10.1007/s11060-010-0509-x. PMID 21193945.
  9. ↑ Collins, VP.; Jones, DT.; Giannini, C. (Jun 2015). "Pilocytic astrocytoma: pathology, molecular mechanisms and markers.". Acta Neuropathol 129 (6): 775-88. doi:10.1007/s00401-015-1410-7. PMID 25792358.
  10. ↑ Jones, DT.; Hutter, B.; Jäger, N.; Korshunov, A.; Kool, M.; Warnatz, HJ.; Zichner, T.; Lambert, SR. et al. (Aug 2013). "Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.". Nat Genet 45 (8): 927-32. doi:10.1038/ng.2682. PMID 23817572.
  11. ↑ Cin, H.; Meyer, C.; Herr, R.; Janzarik, WG.; Lambert, S.; Jones, DT.; Jacob, K.; Benner, A. et al. (Jun 2011). "Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma.". Acta Neuropathol 121 (6): 763-74. doi:10.1007/s00401-011-0817-z. PMID 21424530.
  12. ↑ Friedrich, RE.; Nuding, MA. (Aug 2016). "Optic Pathway Glioma and Cerebral Focal Abnormal Signal Intensity in Patients with Neurofibromatosis Type 1: Characteristics, Treatment Choices and Follow-up in 134 Affected Individuals and a Brief Review of the Literature.". Anticancer Res 36 (8): 4095-121. PMID 27466519.
  13. ↑ Jones, DT.; Hutter, B.; Jäger, N.; Korshunov, A.; Kool, M.; Warnatz, HJ.; Zichner, T.; Lambert, SR. et al. (Aug 2013). "Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.". Nat Genet 45 (8): 927-32. doi:10.1038/ng.2682. PMID 23817572.
  14. ↑ Metts, RD.; Bartynski, W.; Welsh, CT.; Kinsman, S.; Bredlau, AL. (Mar 2017). "Bevacizumab Therapy for Pilomyxoid Astrocytoma.". J Pediatr Hematol Oncol. doi:10.1097/MPH.0000000000000824. PMID 28338567.
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