Ganglioglioma pathophysiology: Difference between revisions

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==Overview==
==Overview==
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==Pathophysiology==
==Pathophysiology==
===Genetics===
Mutation of BRAF V600E gene has been detected in ganglioglioma. The mutant BRAF protein is expressed predominantly in neural cells and to a lesser degree, in the glial component. <ref name="pmid23435618">{{cite journal| author=Koelsche C, Wöhrer A, Jeibmann A, Schittenhelm J, Schindler G, Preusser M et al.| title=Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells. | journal=Acta Neuropathol | year= 2013 | volume= 125 | issue= 6 | pages= 891-900 | pmid=23435618 | doi=10.1007/s00401-013-1100-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23435618  }} </ref> <ref name="pmid23609006">{{cite journal| author=Dahiya S, Haydon DH, Alvarado D, Gurnett CA, Gutmann DH, Leonard JR| title=BRAF(V600E) mutation is a negative prognosticator in pediatric ganglioglioma. | journal=Acta Neuropathol | year= 2013 | volume= 125 | issue= 6 | pages= 901-10 | pmid=23609006 | doi=10.1007/s00401-013-1120-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23609006  }} </ref>
===Pathogenesis===
Different pathways may be involved in the molecular pathogenesis of the ganglioglioma. Activation of the PI3K-Akt-mTOR pathway has been noted in ganglioglioma.
===Gross Pathology===
===Gross Pathology===
*Ganglioglioma is commonly located in the following regions of the [[central nervous system]]:<ref name=dd>Pathophysiology of ganglioglioma. Dr Henry Knipe and Dr Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/ganglioglioma</ref>
 
**[[Temporal lobe]] (most common)
 
**[[Frontal lobe]]
**[[Parietal lobe]]
**[[Occipital lobe]]
**[[Thalamus]]
**[[Third ventricle]]
**[[Spinal cord]]
*Their appearance is variable: from a ''partially cystic mass'' with an mural nodule (~45% of cases) to a ''solid mass'' expanding the overlying gyrus.


===Microscopic Pathology===
===Microscopic Pathology===
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===Markers===
===Markers===
Neuronal origin is demonstrated by positivity to neuronal markers:<ref name=dd>Pathophysiology of ganglioglioma. Dr Henry Knipe and Dr Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/ganglioglioma</ref>
*[[Synaptophysin]]
*Neuronal specific enolase
*[[GFAP]]


==References==
==References==
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Latest revision as of 18:03, 2 August 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mandana Chitsazan, M.D. [2]

Overview

A ganglioglioma arises from neuronal glial cells, which are cells of the central nervous system. On gross pathology, a ganglioglioma varies from being a partially cystic mass with a mural nodule to a solid mass expanding the overlying gyrus. On microscopic pathology, a ganglioglioma is composed of ganglion cells and neoplastic glial cells with positive staining for synaptophysin, neuronal specific enolase, and GFAP.

Pathophysiology

Genetics

Mutation of BRAF V600E gene has been detected in ganglioglioma. The mutant BRAF protein is expressed predominantly in neural cells and to a lesser degree, in the glial component. [1] [2]

Pathogenesis

Different pathways may be involved in the molecular pathogenesis of the ganglioglioma. Activation of the PI3K-Akt-mTOR pathway has been noted in ganglioglioma.


Gross Pathology

Microscopic Pathology

Gangliogliomas are composed of two cell populations:[3]

  • Ganglion cells (large mature neuronal elements): ganglio-
  • Neoplastic glial elements (astrocytic): -glioma

The glial component determines the biological behaviour of ganglioglioma. Dedifferentiation into high grade tumors may occur, and usually involves the glial component.

Markers

References

  1. Koelsche C, Wöhrer A, Jeibmann A, Schittenhelm J, Schindler G, Preusser M; et al. (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.
  2. Dahiya S, Haydon DH, Alvarado D, Gurnett CA, Gutmann DH, Leonard JR (2013). "BRAF(V600E) mutation is a negative prognosticator in pediatric ganglioglioma". Acta Neuropathol. 125 (6): 901–10. doi:10.1007/s00401-013-1120-y. PMID 23609006.
  3. Pathophysiology of ganglioglioma. Dr Henry Knipe and Dr Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/ganglioglioma


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