Subependymal giant cell astrocytoma pathophysiology: Difference between revisions

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__NOTOC__
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{{Subependymal giant cell astrocytoma}}
{{Subependymal giant cell astrocytoma}}
{{CMG}}{{AE}}{{SR}}
{{CMG}}{{AE}} {{IO}}, {{SR}}


==Overview==
==Overview==
Subependymal giant cell astrocytoma is believed to arise from a [[subependymal|subependymal nodule]] present in the ventricular wall of a patient with [[tuberous sclerosis]].<ref name=Pathogenesisofsega1>Pathology of subependymal giant cell astrocytoma. Dr. Bruno Di Muzio and Dr. Jeremy Jones et al. Radiopaedia 2015. http://radiopaedia.org/articles/subependymal-giant-cell-astrocytoma. Accessed on November 2, 2015</ref><ref name="pmid25977907">{{cite journal| author=Jung TY, Kim YH, Jung S, Baek HJ, Lee KH| title=The clinical characteristics of subependymal giant cell astrocytoma: five cases. | journal=Brain Tumor Res Treat | year= 2015 | volume= 3 | issue= 1 | pages= 44-7 | pmid=25977907 | doi=10.14791/btrt.2015.3.1.44 | pmc=PMC4426277 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25977907  }} </ref> Genes involved in the pathogenesis of subependymal giant cell astrocytoma include ''[[TSC1]]'' and ''[[TSC2]]''. Subependymal giant cell astrocytoma is almost exclusively associated with [[tuberous sclerosis complex]], which is an [[autosomal dominant]] disorder.<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref> On gross pathology, subependymal giant cell astrocytoma is characterized by a large, fleshy, well-circumscribed intraventricular mass in the wall of the lateral ventricle near the [[foramen of Monro]], that does not invade into the periventricular parenchyma.<ref name=grosspathologyofsega>Final Diagnosis-Subependymal giant cell astrocytoma. upmc.edu 2015. http://path.upmc.edu/cases/case179/dx.html. Accessed on November 4, 2015</ref><ref name=grossfeaturesofsega>Gross features of subependymal giant cell astrocytoma. Libre pathology 2015. http://librepathology.org/wiki/index.php/Subependymal_giant_cell_astrocytoma. Accessed on November 2, 2015</ref> On microscopic histopathological analysis, subependymal giant cell astrocytoma is characterized by three types of cells (fibrillated elongated spindle cells, swollen gemistocytic-like cells, and giant ganglion-like cells) with nuclear pseudoinclusions and rosettes, perivascular inflammatory cells, and glassy [[eosinophilic]] cytoplasm.<ref name="OuyangZhang2014">{{cite journal|last1=Ouyang|first1=Taohui|last2=Zhang|first2=Na|last3=Benjamin|first3=Thomas|last4=Wang|first4=Long|last5=Jiao|first5=Jiantong|last6=Zhao|first6=Yiqing|last7=Chen|first7=Jian|title=Subependymal giant cell astrocytoma: current concepts, management, and future directions|journal=Child's Nervous System|volume=30|issue=4|year=2014|pages=561–570|issn=0256-7040|doi=10.1007/s00381-014-2383-x}}</ref><ref name=MicroscopicpathologyofSEGA1>Microscopic features of subependymal giant cell astrocytoma. Libre pathology 2015. http://librepathology.org/wiki/index.php/Subependymal_giant_cell_astrocytoma. Accessed on November 2, 2015</ref> Subependymal giant cell astrocytoma is demonstrated by positivity to [[tumor marker]]s such as [[GFAP]], [[vimentin]], [[S-100 protein|S-100]], [[neurofilament]], and [[synaptophysin]].<ref name="pmid25977907">{{cite journal| author=Jung TY, Kim YH, Jung S, Baek HJ, Lee KH| title=The clinical characteristics of subependymal giant cell astrocytoma: five cases. | journal=Brain Tumor Res Treat | year= 2015 | volume= 3 | issue= 1 | pages= 44-7 | pmid=25977907 | doi=10.14791/btrt.2015.3.1.44 | pmc=PMC4426277 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25977907  }} </ref><ref name=Immunohistochemistryofsega1>IHC features of subependymal giant cell astrocytoma. Libre pathology 2015. http://librepathology.org/wiki/index.php/Subependymal_giant_cell_astrocytoma. Accessed on October 2, 2015</ref><ref name="pmid8546029">{{cite journal| author=Hirose T, Scheithauer BW, Lopes MB, Gerber HA, Altermatt HJ, Hukee MJ et al.| title=Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study. | journal=Acta Neuropathol | year= 1995 | volume= 90 | issue= 4 | pages= 387-99 | pmid=8546029 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8546029  }} </ref><ref name="pmid8928613">{{cite journal| author=Lopes MB, Altermatt HJ, Scheithauer BW, Shepherd CW, VandenBerg SR| title=Immunohistochemical characterization of subependymal giant cell astrocytomas. | journal=Acta Neuropathol | year= 1996 | volume= 91 | issue= 4 | pages= 368-75 | pmid=8928613 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8928613  }} </ref>
Subependymal giant cell astrocytoma is almost exclusively associated with [[tuberous sclerosis complex]], which is an [[autosomal dominant]] disorder. It is associated with inactivation of the [[tumor suppressor genes]], [[TSC1]] and/or [[TSC2]]. It is also believed to arise from a [[subependymal|subependymal nodule]] present in the ventricular wall of a patient with [[tuberous sclerosis]]. Some of the common findings seen on microscopic pathology include [[pleomorphic]] multinuleated [[eosinophilic]] cells, streams of elongated tumor cells with abundant [[cytoplasm]], and clustered cells arranged in a perivascular pseudopallisading pattern. On [[immunohistochemistry]], the [[tumor]] cells are positive for [[glial fibrillary acidic protein]], [[microtubule-associated protein 2]], [[synaptophysin]], [[S-100]], [[neurofilament]], and [[neuron-specific enolase]].


==Pathophysiology==
==Pathophysiology==
===Pathogenesis===
===Pathogenesis===
*Subependymal giant cell astrocytoma is a rare, benign tumor predominantly associated with tuberous sclerosis complex, although a few cases have been reported in patients without evidence of tuberous sclerosis.<ref name="BeaumontGodzik2015">{{cite journal|last1=Beaumont|first1=Thomas L.|last2=Godzik|first2=Jakub|last3=Dahiya|first3=Sonika|last4=Smyth|first4=Matthew D.|title=Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report|journal=Journal of Neurosurgery: Pediatrics|volume=16|issue=2|year=2015|pages=134–137|issn=1933-0707|doi=10.3171/2015.1.PEDS13146}}</ref>
*Subependymal giant cell astrocytoma is a rare, [[benign tumor]] predominantly associated with [[tuberous sclerosis complex]], although a few cases have been reported in patients without evidence of [[tuberous sclerosis]].<ref name="BeaumontGodzik2015">{{cite journal|last1=Beaumont|first1=Thomas L.|last2=Godzik|first2=Jakub|last3=Dahiya|first3=Sonika|last4=Smyth|first4=Matthew D.|title=Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report|journal=Journal of Neurosurgery: Pediatrics|volume=16|issue=2|year=2015|pages=134–137|issn=1933-0707|doi=10.3171/2015.1.PEDS13146}}</ref>
*It is classified as a WHO grade I central nervous system tumor.
*It is classified as a WHO grade I [[central nervous system]] tumor.
*It is of glioneuronal origin and typically arises from the caudothalamic groove adjacent to the foramen of monro.<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref><ref name="LouisOhgaki2007">{{cite journal|last1=Louis|first1=David N.|last2=Ohgaki|first2=Hiroko|last3=Wiestler|first3=Otmar D.|last4=Cavenee|first4=Webster K.|last5=Burger|first5=Peter C.|last6=Jouvet|first6=Anne|last7=Scheithauer|first7=Bernd W.|last8=Kleihues|first8=Paul|title=The 2007 WHO Classification of Tumours of the Central Nervous System|journal=Acta Neuropathologica|volume=114|issue=2|year=2007|pages=97–109|issn=0001-6322|doi=10.1007/s00401-007-0243-4}}</ref>
*It is of glioneuronal origin and typically arises from the caudothalamic groove adjacent to the foramen of monro.<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref><ref name="LouisOhgaki2007">{{cite journal|last1=Louis|first1=David N.|last2=Ohgaki|first2=Hiroko|last3=Wiestler|first3=Otmar D.|last4=Cavenee|first4=Webster K.|last5=Burger|first5=Peter C.|last6=Jouvet|first6=Anne|last7=Scheithauer|first7=Bernd W.|last8=Kleihues|first8=Paul|title=The 2007 WHO Classification of Tumours of the Central Nervous System|journal=Acta Neuropathologica|volume=114|issue=2|year=2007|pages=97–109|issn=0001-6322|doi=10.1007/s00401-007-0243-4}}</ref>
*The inactivation of the tumor suppressor genes TSC1 (on chromosome 9q34) and/or TSC2 (on chromosome 16p13) results in the formation of subependymal giant cell astrocytoma in tuberous sclerosis patients. TSC1 and TSC2 encodes the proteins tuberin and hamartin, respectively. The tuberin/harmatin complex suppresses Ras homolog enriched in brain (RHES) which functions as a direct activator of the mammalian target of rapamycin (mTOR). The complex also inhibits cyclin-dependent kinase inhibitor 1B, which regulates cell cycle progression. The activation of mTOR and progression of the cell cycle from the loss of upstream inhibition leads to protein translation, cell growth, and proliferation.<ref name="BeaumontGodzik2015">{{cite journal|last1=Beaumont|first1=Thomas L.|last2=Godzik|first2=Jakub|last3=Dahiya|first3=Sonika|last4=Smyth|first4=Matthew D.|title=Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report|journal=Journal of Neurosurgery: Pediatrics|volume=16|issue=2|year=2015|pages=134–137|issn=1933-0707|doi=10.3171/2015.1.PEDS13146}}</ref>*It is commonly located in the ventricles but a few may have extraventricular locations.<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref>
*The inactivation of the [[tumor suppressor genes]] [[TSC1]] (on [[chromosome]] 9q34) and/or [[TSC2]] (on [[chromosome]] 16p13) results in the formation of subependymal giant cell astrocytoma in people with [[tuberous sclerosis]].<ref name="BeaumontGodzik2015">{{cite journal|last1=Beaumont|first1=Thomas L.|last2=Godzik|first2=Jakub|last3=Dahiya|first3=Sonika|last4=Smyth|first4=Matthew D.|title=Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report|journal=Journal of Neurosurgery: Pediatrics|volume=16|issue=2|year=2015|pages=134–137|issn=1933-0707|doi=10.3171/2015.1.PEDS13146}}</ref>
*Subependymal giant cell astrocytoma is a major cause of tuberous sclerosis complex-related morbidity and mortality during the pediatrics age, as it is seen in 10 to 20% of these patients.<ref name="pmid25977907">{{cite journal| author=Jung TY, Kim YH, Jung S, Baek HJ, Lee KH| title=The clinical characteristics of subependymal giant cell astrocytoma: five cases. | journal=Brain Tumor Res Treat | year= 2015 | volume= 3 | issue= 1 | pages= 44-7 | pmid=25977907 | doi=10.14791/btrt.2015.3.1.44 | pmc=4426277 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25977907  }} </ref>
*[[TSC1]] and [[TSC2]] encodes the proteins [[tuberin]] and [[hamartin]], respectively. The [[tuberin]]/[[hamartin]] complex suppresses [[Ras]] [[homolog]] enriched in [[brain]] (RHES) which functions as a direct activator of the mammalian target of rapamycin (mTOR). The complex also inhibits cyclin-dependent kinase inhibitor 1B, which regulates [[cell cycle]] progression. The activation of mTOR and progression of the [[cell cycle]] from the loss of upstream inhibition leads to protein translation, cell growth, and proliferation.<ref name="BeaumontGodzik2015">{{cite journal|last1=Beaumont|first1=Thomas L.|last2=Godzik|first2=Jakub|last3=Dahiya|first3=Sonika|last4=Smyth|first4=Matthew D.|title=Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report|journal=Journal of Neurosurgery: Pediatrics|volume=16|issue=2|year=2015|pages=134–137|issn=1933-0707|doi=10.3171/2015.1.PEDS13146}}</ref>
*It is believed that a subependymal nodule, which are common [[brain]] masses seen in [[tuberous sclerosis]], can transform to subependymal giant cell astrocytoma.
*It is commonly located in the ventricles but a few may have extraventricular locations.<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref>
*Subependymal giant cell astrocytoma is a major cause of [[tuberous sclerosis]] complex-related [[morbidity]] and [[mortality]] during the pediatrics age, as it is seen in 10 to 20% of these patients.<ref name="pmid25977907">{{cite journal| author=Jung TY, Kim YH, Jung S, Baek HJ, Lee KH| title=The clinical characteristics of subependymal giant cell astrocytoma: five cases. | journal=Brain Tumor Res Treat | year= 2015 | volume= 3 | issue= 1 | pages= 44-7 | pmid=25977907 | doi=10.14791/btrt.2015.3.1.44 | pmc=4426277 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25977907  }} </ref>
*It is believed to arise from a [[subependymal|subependymal nodule]] but this is controversial because subependymal giant cell astrocytomas are located in the caudothalamic groove while subependymal nodules are located in the ependymal lining of the lateral ventricles along the caudate nucleus.<ref name="pmid25977907">{{cite journal| author=Jung TY, Kim YH, Jung S, Baek HJ, Lee KH| title=The clinical characteristics of subependymal giant cell astrocytoma: five cases. | journal=Brain Tumor Res Treat | year= 2015 | volume= 3 | issue= 1 | pages= 44-7 | pmid=25977907 | doi=10.14791/btrt.2015.3.1.44 | pmc=PMC4426277 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25977907  }} </ref>
*It is believed to arise from a [[subependymal|subependymal nodule]] but this is controversial because subependymal giant cell astrocytomas are located in the caudothalamic groove while subependymal nodules are located in the ependymal lining of the lateral ventricles along the caudate nucleus.<ref name="pmid25977907">{{cite journal| author=Jung TY, Kim YH, Jung S, Baek HJ, Lee KH| title=The clinical characteristics of subependymal giant cell astrocytoma: five cases. | journal=Brain Tumor Res Treat | year= 2015 | volume= 3 | issue= 1 | pages= 44-7 | pmid=25977907 | doi=10.14791/btrt.2015.3.1.44 | pmc=PMC4426277 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25977907  }} </ref>
*On Immunohistochemistry, the tumor cells test positive for the glial fibrillary acidic protein and microtubule-associated protein 2.<ref name="pmid25977907">{{cite journal| author=Jung TY, Kim YH, Jung S, Baek HJ, Lee KH| title=The clinical characteristics of subependymal giant cell astrocytoma: five cases. | journal=Brain Tumor Res Treat | year= 2015 | volume= 3 | issue= 1 | pages= 44-7 | pmid=25977907 | doi=10.14791/btrt.2015.3.1.44 | pmc=4426277 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25977907  }} </ref>
*On [[immunohistochemistry]], the [[tumor]] cells test positive for the [[glial fibrillary acidic protein]] and [[microtubule-associated protein 2]].<ref name="pmid25977907">{{cite journal| author=Jung TY, Kim YH, Jung S, Baek HJ, Lee KH| title=The clinical characteristics of subependymal giant cell astrocytoma: five cases. | journal=Brain Tumor Res Treat | year= 2015 | volume= 3 | issue= 1 | pages= 44-7 | pmid=25977907 | doi=10.14791/btrt.2015.3.1.44 | pmc=4426277 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25977907  }} </ref>
 
{| style="border: 0px; font-size: 90%; margin: 3px; width:1000px align=center"
|valign=top|
|+
! style="background: #4479BA; width: 800px;" | {{fontcolor|#FFF|Subependymal giant cell astrocytoma}}
! style="background: #4479BA; width: 800px;" | {{fontcolor|#FFF|Subependymal nodule}}
|-
| style="padding: 5px 5px; background: #DCDCDC;" |
*Large-sized
| style="padding: 5px 5px; background: #DCDCDC;" |
*Small-sized
|-
| style="padding: 5px 5px; background: #DCDCDC;" |
*Tumor mass grows in size
| style="padding: 5px 5px; background: #DCDCDC;" |
*Remains stable in size
|-
| style="padding: 5px 5px; background: #DCDCDC;" |
*Mass effect
| style="padding: 5px 5px; background: #DCDCDC;" |
*No mass effect
|-
| style="padding: 5px 5px; background: #DCDCDC;" |
*Located in the caudothalamic groove
| style="padding: 5px 5px; background: #DCDCDC;" |
*Located in the ependymal lining of the lateral ventricles along the caudate nucleus
|-
| style="padding: 5px 5px; background: #DCDCDC;" |
*No calcification
| style="padding: 5px 5px; background: #DCDCDC;" |
*Calcification present
|-
| style="padding: 5px 5px; background: #DCDCDC;" |
*Contrast enhancement present
| style="padding: 5px 5px; background: #DCDCDC;" |
*Nonenhancing lesions
|}


==Genetics==
==Genetics==
Genes involved in the pathogenesis of subependymal giant cell astrocytoma include:<ref name="pmid21465222">{{cite journal| author=Campen CJ, Porter BE| title=Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. | journal=Curr Treat Options Neurol | year= 2011 | volume= 13 | issue= 4 | pages= 380-5 | pmid=21465222 | doi=10.1007/s11940-011-0123-z | pmc=3130084 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222  }} </ref>
[[Genes]] involved in the [[pathogenesis]] of subependymal giant cell astrocytoma include:<ref name="pmid21465222">{{cite journal| author=Campen CJ, Porter BE| title=Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. | journal=Curr Treat Options Neurol | year= 2011 | volume= 13 | issue= 4 | pages= 380-5 | pmid=21465222 | doi=10.1007/s11940-011-0123-z | pmc=3130084 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222  }} </ref>
*TSC1
*[[TSC1]]
*TSC2
*[[TSC2]]


===Associated Conditions===
==Associated Conditions==
Conditions associated with subependymal giant cell astrocytoma include:<ref name="pmid21465222">{{cite journal| author=Campen CJ, Porter BE| title=Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. | journal=Curr Treat Options Neurol | year= 2011 | volume= 13 | issue= 4 | pages= 380-5 | pmid=21465222 | doi=10.1007/s11940-011-0123-z | pmc=3130084 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222  }} </ref>
Conditions associated with subependymal giant cell astrocytoma include:<ref name="pmid21465222">{{cite journal| author=Campen CJ, Porter BE| title=Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. | journal=Curr Treat Options Neurol | year= 2011 | volume= 13 | issue= 4 | pages= 380-5 | pmid=21465222 | doi=10.1007/s11940-011-0123-z | pmc=3130084 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222  }} </ref>


*Tuberous sclerosis
*[[Tuberous sclerosis]]
 
===Gross Pathology===
*On gross pathology, subependymal giant cell astrocytoma is characterized by a large, fleshy, well-circumscribed intraventricular mass in the wall of the lateral ventricle near the [[foramen of Monro]], that does not invade into the periventricular parenchyma.<ref name=grosspathologyofsega>Final Diagnosis-Subependymal giant cell astrocytoma. upmc.edu 2015. http://path.upmc.edu/cases/case179/dx.html. Accessed on November 4, 2015</ref><ref name=grossfeaturesofsega>Gross features of subependymal giant cell astrocytoma. Libre pathology 2015. http://librepathology.org/wiki/index.php/Subependymal_giant_cell_astrocytoma. Accessed on November 2, 2015</ref>
*Subependymal giant cell astrocytoma typically arises at the caudothalamic groove adjacent to the [[foramen of Monro]].<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref>
*Other common intracranial sites associated with subependymal giant cell astrocytoma include:<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref>
:*[[Fornix of brain|Fornix]]
:*[[Hypothalamus]]
:*[[Basal ganglia]]
:*[[Genu of internal capsule|Genu of the internal capsule]]
 
====Gallery====
<gallery>
Image:Subependymal giant cell astrocytoma gross appearance 1.jpg|<sub>Gross specimen of subependymal giant cell astrocytoma showing a large fleshy mass in the midline and producing marked dilatation of the lateral ventricles.<ref name=grossfeaturesofsega>Gross features of subependymal giant cell astrocytoma. Libre pathology 2015. http://librepathology.org/wiki/index.php/Subependymal_giant_cell_astrocytoma. Accessed on November 2, 2015</ref></sub>
 
</gallery>


==Microscopic Pathology==
==Microscopic Pathology==
On microscopic histopathological analysis, subependymal giant cell astrocytoma is characterized by:<ref name="pmid25977907">{{cite journal| author=Jung TY, Kim YH, Jung S, Baek HJ, Lee KH| title=The clinical characteristics of subependymal giant cell astrocytoma: five cases. | journal=Brain Tumor Res Treat | year= 2015 | volume= 3 | issue= 1 | pages= 44-7 | pmid=25977907 | doi=10.14791/btrt.2015.3.1.44 | pmc=4426277 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25977907  }} </ref><ref name="OuyangZhang2014">{{cite journal|last1=Ouyang|first1=Taohui|last2=Zhang|first2=Na|last3=Benjamin|first3=Thomas|last4=Wang|first4=Long|last5=Jiao|first5=Jiantong|last6=Zhao|first6=Yiqing|last7=Chen|first7=Jian|title=Subependymal giant cell astrocytoma: current concepts, management, and future directions|journal=Child's Nervous System|volume=30|issue=4|year=2014|pages=561–570|issn=0256-7040|doi=10.1007/s00381-014-2383-x}}</ref><ref name=MicroscopicpathologyofSEGA1>Microscopic features of subependymal giant cell astrocytoma. Libre pathology 2015. http://librepathology.org/wiki/index.php/Subependymal_giant_cell_astrocytoma. Accessed on November 2, 2015</ref><ref name="pmid2067610">{{cite journal| author=Shepherd CW, Scheithauer BW, Gomez MR, Altermatt HJ, Katzmann JA| title=Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study. | journal=Neurosurgery | year= 1991 | volume= 28 | issue= 6 | pages= 864-8 | pmid=2067610 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2067610  }} </ref><ref name="BeaumontGodzik2015">{{cite journal|last1=Beaumont|first1=Thomas L.|last2=Godzik|first2=Jakub|last3=Dahiya|first3=Sonika|last4=Smyth|first4=Matthew D.|title=Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report|journal=Journal of Neurosurgery: Pediatrics|volume=16|issue=2|year=2015|pages=134–137|issn=1933-0707|doi=10.3171/2015.1.PEDS13146}}</ref><ref name="pmid27013816">{{cite journal| author=Nasit J, Vaghsiya V, Hiryur S, Patel S| title=Intraoperative Squash Cytologic Features of Subependymal Giant Cell Astrocytoma. | journal=J Lab Physicians | year= 2016 | volume= 8 | issue= 1 | pages= 58-61 | pmid=27013816 | doi=10.4103/0974-2727.176231 | pmc=4785769 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27013816  }} </ref><ref name="pmid27013816">{{cite journal| author=Nasit J, Vaghsiya V, Hiryur S, Patel S| title=Intraoperative Squash Cytologic Features of Subependymal Giant Cell Astrocytoma. | journal=J Lab Physicians | year= 2016 | volume= 8 | issue= 1 | pages= 58-61 | pmid=27013816 | doi=10.4103/0974-2727.176231 | pmc=4785769 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27013816  }} </ref>
On microscopic histopathological analysis, subependymal giant cell astrocytoma is characterized by:<ref name="pmid25977907">{{cite journal| author=Jung TY, Kim YH, Jung S, Baek HJ, Lee KH| title=The clinical characteristics of subependymal giant cell astrocytoma: five cases. | journal=Brain Tumor Res Treat | year= 2015 | volume= 3 | issue= 1 | pages= 44-7 | pmid=25977907 | doi=10.14791/btrt.2015.3.1.44 | pmc=4426277 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25977907  }} </ref><ref name="OuyangZhang2014">{{cite journal|last1=Ouyang|first1=Taohui|last2=Zhang|first2=Na|last3=Benjamin|first3=Thomas|last4=Wang|first4=Long|last5=Jiao|first5=Jiantong|last6=Zhao|first6=Yiqing|last7=Chen|first7=Jian|title=Subependymal giant cell astrocytoma: current concepts, management, and future directions|journal=Child's Nervous System|volume=30|issue=4|year=2014|pages=561–570|issn=0256-7040|doi=10.1007/s00381-014-2383-x}}</ref><ref name="MicroscopicpathologyofSEGA1">Microscopic features of subependymal giant cell astrocytoma. Libre pathology 2015. http://librepathology.org/wiki/index.php/Subependymal_giant_cell_astrocytoma. Accessed on November 2, 2015</ref><ref name="pmid2067610">{{cite journal| author=Shepherd CW, Scheithauer BW, Gomez MR, Altermatt HJ, Katzmann JA| title=Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study. | journal=Neurosurgery | year= 1991 | volume= 28 | issue= 6 | pages= 864-8 | pmid=2067610 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2067610  }} </ref><ref name="BeaumontGodzik2015">{{cite journal|last1=Beaumont|first1=Thomas L.|last2=Godzik|first2=Jakub|last3=Dahiya|first3=Sonika|last4=Smyth|first4=Matthew D.|title=Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report|journal=Journal of Neurosurgery: Pediatrics|volume=16|issue=2|year=2015|pages=134–137|issn=1933-0707|doi=10.3171/2015.1.PEDS13146}}</ref><ref name="pmid27013816">{{cite journal| author=Nasit J, Vaghsiya V, Hiryur S, Patel S| title=Intraoperative Squash Cytologic Features of Subependymal Giant Cell Astrocytoma. | journal=J Lab Physicians | year= 2016 | volume= 8 | issue= 1 | pages= 58-61 | pmid=27013816 | doi=10.4103/0974-2727.176231 | pmc=4785769 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27013816  }} </ref><ref name="pmid27013816">{{cite journal| author=Nasit J, Vaghsiya V, Hiryur S, Patel S| title=Intraoperative Squash Cytologic Features of Subependymal Giant Cell Astrocytoma. | journal=J Lab Physicians | year= 2016 | volume= 8 | issue= 1 | pages= 58-61 | pmid=27013816 | doi=10.4103/0974-2727.176231 | pmc=4785769 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27013816  }} </ref>
*Pleomorphic multinuleated eosinophilic cells
*[[Pleomorphic]] multinuleated [[eosinophilic]] cells
*Streams of elongated tumor cells with abundant cytoplasm
*Streams of elongated [[tumor]] cells with abundant [[cytoplasm]]
*Clustered cells arranged in a perivascular pseudopallisading pattern
*Clustered cells arranged in a perivascular pseudopallisading pattern
*Evenly distributed granular chromatin
*Evenly distributed granular [[chromatin]]
*Frequent binucleation and multinucleation
*Frequent binucleation and multinucleation
*Vesicular nuclei
*[[Vesicular]] [[nuclei]]
*Occasional distinct to prominent nucleoli
*Occasional distinct to prominent [[nucleoli]]
*On rare occasions, there can be atypical features such as microvascular proliferations, mitosis, and necrosis
*On rare occasions, there can be atypical features such as vascular [[endothelial]] proliferations, [[mitosis]], and [[necrosis]]
*Tumor cells positive on immunohistochemistry for glial fibrillary acidic protein, microtubule-associated protein 2, synaptophysin, S-100, neurofilament, and neuron-specific enolase.
*Tumor cells are positive on [[immunohistochemistry]] for [[glial fibrillary acidic protein]], [[microtubule-associated protein 2]], [[synaptophysin]], [[S-100]], [[neurofilament]], and [[neuron-specific enolase
 
[[File:SEGA histology.jpg|400px|thumb|left|Histology showing subependymal giant cell astrocytoma[https://commons.wikimedia.org/wiki/File:SEGA_HE.jpg source:wikimedia commons]]]<br style="clear:left" />
[[File:SEGA histology 2.jpg|400px|thumb|left|histological picture showing presence of neurofilaments on immunohistochemical staining[https://commons.wikimedia.org/wiki/File:SEGA_NF.jpg source:wikimedia commons ]]]<br style="clear:left" />
[[File:SEGA GFAP.jpg|400px|thumb|left|Histological picture showing immunohistochemical staining for the presence of GFAP[https://commons.wikimedia.org/wiki/File:SEGA_GFAP.jpg source: wikimedia commons ]]]<br style="clear:left" />


==References==
==References==

Latest revision as of 15:47, 8 November 2019

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

Overview

Subependymal giant cell astrocytoma is almost exclusively associated with tuberous sclerosis complex, which is an autosomal dominant disorder. It is associated with inactivation of the tumor suppressor genes, TSC1 and/or TSC2. It is also believed to arise from a subependymal nodule present in the ventricular wall of a patient with tuberous sclerosis. Some of the common findings seen on microscopic pathology include pleomorphic multinuleated eosinophilic cells, streams of elongated tumor cells with abundant cytoplasm, and clustered cells arranged in a perivascular pseudopallisading pattern. On immunohistochemistry, the tumor cells are positive for glial fibrillary acidic protein, microtubule-associated protein 2, synaptophysin, S-100, neurofilament, and neuron-specific enolase.

Pathophysiology

Pathogenesis

Genetics

Genes involved in the pathogenesis of subependymal giant cell astrocytoma include:[5]

Associated Conditions

Conditions associated with subependymal giant cell astrocytoma include:[5]

Microscopic Pathology

On microscopic histopathological analysis, subependymal giant cell astrocytoma is characterized by:[4][6][7][8][1][9][9]

Histology showing subependymal giant cell astrocytomasource:wikimedia commons


histological picture showing presence of neurofilaments on immunohistochemical stainingsource:wikimedia commons


Histological picture showing immunohistochemical staining for the presence of GFAPsource: wikimedia commons


References

  1. ↑ 1.0 1.1 1.2 1.3 Beaumont, Thomas L.; Godzik, Jakub; Dahiya, Sonika; Smyth, Matthew D. (2015). "Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report". Journal of Neurosurgery: Pediatrics. 16 (2): 134–137. doi:10.3171/2015.1.PEDS13146. ISSN 1933-0707.
  2. ↑ 2.0 2.1 Roth, Jonathan; Roach, E. Steve; Bartels, Ute; Jóźwiak, Sergiusz; Koenig, Mary Kay; Weiner, Howard L.; Franz, David N.; Wang, Henry Z. (2013). "Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012". Pediatric Neurology. 49 (6): 439–444. doi:10.1016/j.pediatrneurol.2013.08.017. ISSN 0887-8994.
  3. ↑ Louis, David N.; Ohgaki, Hiroko; Wiestler, Otmar D.; Cavenee, Webster K.; Burger, Peter C.; Jouvet, Anne; Scheithauer, Bernd W.; Kleihues, Paul (2007). "The 2007 WHO Classification of Tumours of the Central Nervous System". Acta Neuropathologica. 114 (2): 97–109. doi:10.1007/s00401-007-0243-4. ISSN 0001-6322.
  4. ↑ 4.0 4.1 4.2 4.3 Jung TY, Kim YH, Jung S, Baek HJ, Lee KH (2015). "The clinical characteristics of subependymal giant cell astrocytoma: five cases". Brain Tumor Res Treat. 3 (1): 44–7. doi:10.14791/btrt.2015.3.1.44. PMC 4426277. PMID 25977907.
  5. ↑ 5.0 5.1 Campen CJ, Porter BE (2011). "Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update". Curr Treat Options Neurol. 13 (4): 380–5. doi:10.1007/s11940-011-0123-z. PMC 3130084. PMID 21465222.
  6. ↑ Ouyang, Taohui; Zhang, Na; Benjamin, Thomas; Wang, Long; Jiao, Jiantong; Zhao, Yiqing; Chen, Jian (2014). "Subependymal giant cell astrocytoma: current concepts, management, and future directions". Child's Nervous System. 30 (4): 561–570. doi:10.1007/s00381-014-2383-x. ISSN 0256-7040.
  7. ↑ Microscopic features of subependymal giant cell astrocytoma. Libre pathology 2015. http://librepathology.org/wiki/index.php/Subependymal_giant_cell_astrocytoma. Accessed on November 2, 2015
  8. ↑ Shepherd CW, Scheithauer BW, Gomez MR, Altermatt HJ, Katzmann JA (1991). "Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study". Neurosurgery. 28 (6): 864–8. PMID 2067610.
  9. ↑ 9.0 9.1 Nasit J, Vaghsiya V, Hiryur S, Patel S (2016). "Intraoperative Squash Cytologic Features of Subependymal Giant Cell Astrocytoma". J Lab Physicians. 8 (1): 58–61. doi:10.4103/0974-2727.176231. PMC 4785769. PMID 27013816.


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