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| {{Subependymal giant cell astrocytoma}} | | {{Subependymal giant cell astrocytoma}} |
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| ==Overview== | | ==Overview== |
| Subependymal giant cell astrocytoma is a low-grade astrocytic brain tumor (astrocytoma) that arises within the ventricles of the brain.<ref name=Introsega>Introduction to subependymal giant cell astrocytoma. Wikipedia 2015. https://en.wikipedia.org/wiki/Subependymal_giant_cell_astrocytoma. Accessed on November 8, 2015</ref> Russell et al was the first scientist to coin the term "subependymal giant cell astrocytoma".<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> 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=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="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> 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=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="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="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 must be differentiated from [[Subependymal|subependymal nodule]], [[ependymoma]], [[colloid cyst]], [[tuberculoma]], [[intraventricular hemorrhage]], [[glioblastoma multiforme]], [[primary CNS lymphoma]], and [[cerebral metastases]].<ref name=differentialdiagnosisofsubependymalgiantcellastrcoytoma1>Differential diagnosis 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 4, 2015</ref><ref name=intraventricularmasses1>Intraventricular masses. Dr. Jeremy Jones and Dr. Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/intraventricular-masses-an-approach-1. Accessed on November 4, 2015</ref><ref name=pinealglandmasses1>Differential diagnosis of pineal region masses. Dr. Henry Knipe and Dr. Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/pineal-region-mass. Accessed on November 4, 2015</ref> The incidence of subependymal giant cell astrocytoma is approximately 2.5 per 100,000 individuals in the United States.<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 disease that tends to affect the pediatric, adolescent, and young adult population.<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=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref><ref name=epidemiologyofsega1>Epidemiology 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 4, 2015</ref> Males are more commonly affected with subependymal giant cell astrocytoma than females.<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=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </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> According to the International Tuberous Sclerosis Complex Consensus, screening for subependymal giant cell astrocytoma by [[MRI]] is recommended every 1-3 years among patients with [[tuberous sclerosis]], even in the abscence of symptoms.<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="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=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref> If left untreated, patients with subependymal giant cell astrocytoma may progress to cause [[seizures]], occlusion of the [[foramen of Monro]] with subsequent elevated intracranial pressure and [[obstructive hydrocephalus]], [[infection]], [[stroke]], and death.<ref name=Naturalhistoryofsubependymalgiantcellastrocytoma1>Clinical presentation 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> Common complications of subependymal giant cell astrocytoma include [[obstructive hydrocephalus]], [[brain herniation]], [[hemorrhage|intratumoral hemorrhage]], and [[infection]].<ref name=comryplicationofsega>Surgery of subependymal giant cell astrocytoma. Wikipedia 2015. https://en.wikipedia.org/wiki/Subependymal_giant_cell_astrocytoma. Accessed on November 4, 2015</ref><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=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref> Prognosis of subependymal giant cell astrocytoma is generally poor.<ref name="NabboutSantos1999">{{cite journal|last1=Nabbout|first1=R|last2=Santos|first2=M|last3=Rolland|first3=Y|last4=Delalande|first4=O|last5=Dulac|first5=O|last6=Chiron|first6=C|title=Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis|journal=Journal of Neurology, Neurosurgery & Psychiatry|volume=66|issue=3|year=1999|pages=370–375|issn=0022-3050|doi=10.1136/jnnp.66.3.370}}</ref> Symptoms of subependymal giant cell astrocytoma include [[headache]], [[seizures]], [[vision loss]], [[Aphasia|changes in speech]], [[weakness|weakness in limbs]], and [[sensory loss]].<ref name="pmid23391693">{{cite journal| author=Jóźwiak S, Nabbout R, Curatolo P, participants of the TSC Consensus Meeting for SEGA and Epilepsy Management| title=Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. | journal=Eur J Paediatr Neurol | year= 2013 | volume= 17 | issue= 4 | pages= 348-52 | pmid=23391693 | doi=10.1016/j.ejpn.2012.12.008 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23391693 }} </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=symptomsofsegafghfh>Symptoms of subependymal giant cell astrocytoma. University of Pittsburgh Medical Center 2015. http://www.upmc.com/services/neurosurgery/brain/conditions/brain-tumors/pages/subependymal-giant-cell-astrocytoma.aspx. Accessed on November 5, 2015</ref> Common physical examination findings of subependymal giant cell astrocytoma include [[papilledema]], [[vision loss|vision field defects]], [[developmental delay]], [[mental retardation]], [[aphasia]], [[sensory loss]], and [[hemiparesis]].<ref name="SasongkoIsmail2015">{{cite journal|last1=Sasongko|first1=Teguh Haryo|last2=Ismail|first2=Nur Farrah Dila|last3=Nik Abdul Malik|first3=Nik Mohamad Ariff|last4=Zabidi-Hussin|first4=Z. A. M. H.|title=Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis|journal=Orphanet Journal of Rare Diseases|volume=10|issue=1|year=2015|issn=1750-1172|doi=10.1186/s13023-015-0317-7}}</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> Head CT scan and brain MRI may be helpful in the diagnosis of subependymal giant cell astrocytoma. On head CT scan, subependymal giant cell astrocytoma is characterized by an intraventricular mass near the [[foramen of Monro]], which is iso- or slightly hypoattenuating to the grey matter. Accompanying [[hydrocephalus]] may be present. There is marked enhancement on contrast administration.<ref name=CTfindings1>Radiographic CT features 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 4, 2015</ref> On MRI, subependymal giant cell astrocytoma is characterized by hypo- to isointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There may be marked enhancement on contrast administration.<ref name=CTfindings1>Radiographic MRI features 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 4, 2015</ref> The predominant therapy for subependymal giant cell astrocytoma is surgical resection. Adjunctive chemotherapy may be required.<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=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref><ref name="pmid23391693">{{cite journal| author=Jóźwiak S, Nabbout R, Curatolo P, participants of the TSC Consensus Meeting for SEGA and Epilepsy Management| title=Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. | journal=Eur J Paediatr Neurol | year= 2013 | volume= 17 | issue= 4 | pages= 348-52 | pmid=23391693 | doi=10.1016/j.ejpn.2012.12.008 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23391693 }} </ref> | | Subependymal giant cell astrocytoma is a [[benign tumor]] arising within the ventricles of the brain. It is almost exclusively associated with [[tuberous sclerosis]], an [[autosomal dominant]] disorder associated with the inactivation of the [[tumor suppressor genes]], [[TSC1]] and/or [[TSC2]]. Subependymal giant cell astrocytoma is believed to arise from a [[subependymal|subependymal nodule]] present in the ventricular wall of a patient with [[tuberous sclerosis]]. On microscopic histopathological analysis, it is characterized by pleomorphic multinuleated [[eosinophilic]] cells with abundant [[cytoplasm]], arranged in a perivascular pseudopallisading pattern. Subependymal giant cell astrocytoma is a disease that tends to affect the [[Pediatrics|pediatric]], [[adolescent]], and young adult population. Males are more commonly affected than females. According to the International Tuberous Sclerosis Complex Consensus, screening for subependymal giant cell astrocytoma by [[MRI]] is recommended every 1-3 years among patients with [[tuberous sclerosis]], even in the absence of [[symptoms]]. If left untreated, patients with subependymal giant cell astrocytoma may progress to develop [[seizures]], occlusion of the [[foramen of Monro]] with subsequent elevated [[intracranial pressure]] and [[obstructive hydrocephalus]], [[infection]], [[stroke]], and death. Common complications of subependymal giant cell astrocytoma include [[obstructive hydrocephalus]], [[hemorrhage|intratumoral hemorrhage]], and [[infection]]. [[Symptoms]] of subependymal giant cell astrocytoma include [[headache]], [[seizures]], [[vision loss]], [[Aphasia|changes in speech]], [[weakness|weakness in limbs]], and [[sensory loss]]. Common [[physical examination]] findings of subependymal giant cell astrocytoma include [[papilledema]], [[vision loss|vision field defects]], [[developmental delay]], [[aphasia]], [[sensory loss]], and [[hemiparesis]]. Head [[Computed tomography|CT scan]] and brain [[Magnetic resonance imaging|MRI]] may be helpful in the [[diagnosis]] of subependymal giant cell astrocytoma. On head [[Computed tomography|CT scan]], subependymal giant cell astrocytoma is characterized by an intraventricular [[mass]] near the [[foramen of Monro]], which is iso- or slightly hypoattenuating to the [[grey matter]]. Accompanying [[hydrocephalus]] may be present. There is marked enhancement on [[contrast]] administration. On [[Magnetic resonance imaging|MRI]], subependymal giant cell astrocytoma is characterized by hypo- to isointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There may be marked enhancement on [[contrast]] administration. [[Surgical resection]] is the mainstay treatment of subependymal giant cell astrocytoma but in certain cases, medical therapy such as [[everolimus]] is used. |
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| ==Historical Perspective== | | ==Historical Perspective== |
| Russell et al was the first scientist to coin the term "subependymal giant cell astrocytoma".<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>
| | In 2012, subependymal giant cell astrocytoma was described at the International Tuberous Sclerosis Complex Consensus Conference as a lesion located in the caudothalamic groove having a size of >1 cm in any direction or a subependymal lesion that has shown serial growth on consecutive imaging regardless of size and location. |
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| ==Classification== | | ==Classification== |
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| ==Pathophysiology== | | ==Pathophysiology== |
| 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=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="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> 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=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="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="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|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]]. |
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| ==Causes== | | ==Causes== |
| Common causes of subependymal giant cell astrocytoma include [[mutation|genetic mutations]]. Common genetic mutations involved in the development of subependymal giant cell astrocytoma can be found [[Subependymal giant cell astrocytoma pathophysiology|'''here''']].<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 predominantly seen in patients with [[tuberous sclerosis complex]] which is caused by a [[mutation]] in the [[TSC1 (gene)|TSC1]] and [[TSC2]] [[tumor suppressor genes]]. |
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| ==Differentiating Subependymal Giant Cell Astrocytoma from other Diseases== | | ==Differentiating Subependymal Giant Cell Astrocytoma from other Diseases== |
| Subependymal giant cell astrocytoma must be differentiated from [[Subependymal|subependymal nodule]], [[ependymoma]], [[colloid cyst]], [[tuberculoma]], [[intraventricular hemorrhage]], [[glioblastoma multiforme]], [[primary CNS lymphoma]], and [[cerebral metastases]].<ref name=differentialdiagnosisofsubependymalgiantcellastrcoytoma1>Differential diagnosis 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 4, 2015</ref><ref name=intraventricularmasses1>Intraventricular masses. Dr. Jeremy Jones and Dr. Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/intraventricular-masses-an-approach-1. Accessed on November 4, 2015</ref><ref name=pinealglandmasses1>Differential diagnosis of pineal region masses. Dr. Henry Knipe and Dr. Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/pineal-region-mass. Accessed on November 4, 2015</ref> | | Subependymal giant cell astrocytoma must be differentiated from [[ependymoma]], [[meningioma]], [[tuberculoma]], [[intraventricular hemorrhage]], [[glioblastoma multiforme]], [[primary CNS lymphoma]], and [[cerebral metastases]]. |
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| ==Epidemiology and Demographics== | | ==Epidemiology and Demographics== |
| Subependymal giant cell astrocytoma is the most common central nervous system cancer in patients with tuberous sclerosis complex.<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> Approximately 10-20% of patients with [[tuberous sclerosis]] develop subependymal giant cell astrocytoma.<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 incidence of subependymal giant cell astrocytoma is approximately 2.5 per 100,000 individuals in the United States.<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 disease that tends to affect the pediatric, adolescent, and young adult population.<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=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref><ref name=epidemiologyofsega1>Epidemiology 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 4, 2015</ref> Males are more commonly affected with subependymal giant cell astrocytoma than females.<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=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </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> | | Subependymal giant cell astrocytoma is the most common [[central nervous system]] [[tumor]] in patients with [[tuberous sclerosis complex]]. Approximately 10-20% of patients with [[tuberous sclerosis]] develop subependymal giant cell astrocytoma. It is a disease that tends to commonly affect the pediatric population with males being more affected than females. |
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| ==Risk factors== | | ==Risk factors== |
| The most potent risk factor in the development of subependymal giant cell astrocytoma is [[tuberous sclerosis]].<ref name="pmid24138953">{{cite journal| author=Roth J, Roach ES, Bartels U, Jóźwiak S, Koenig MK, Weiner HL et al.| title=Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. | journal=Pediatr Neurol | year= 2013 | volume= 49 | issue= 6 | pages= 439-44 | pmid=24138953 | doi=10.1016/j.pediatrneurol.2013.08.017 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24138953 }} </ref> | | The most potent [[risk factor]] in the development of subependymal giant cell astrocytoma is [[tuberous sclerosis]]. |
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| ==Screening== | | ==Screening== |
| According to the International Tuberous Sclerosis Complex Consensus, screening for subependymal giant cell astrocytoma by [[MRI]] is recommended every 1-3 years among patients with [[tuberous sclerosis]], even in the abscence of symptoms.<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="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=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref> | | According to the International Tuberous Sclerosis Complex Consensus, screening for subependymal giant cell astrocytoma by [[MRI]] is recommended every 1-3 years among patients with [[tuberous sclerosis]], even in the abscence of [[symptoms]]. |
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| ==Natural History, Complications and Prognosis== | | ==Natural History, Complications and Prognosis== |
| If left untreated, patients with subependymal giant cell astrocytoma may progress to cause [[seizures]], occlusion of the [[foramen of Monro]] with subsequent elevated intracranial pressure and [[obstructive hydrocephalus]], [[infection]], [[stroke]], and death.<ref name=Naturalhistoryofsubependymalgiantcellastrocytoma1>Clinical presentation 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> Common complications of subependymal giant cell astrocytoma include [[obstructive hydrocephalus]], [[brain herniation]], [[hemorrhage|intratumoral hemorrhage]], and [[infection]].<ref name=comryplicationofsega>Surgery of subependymal giant cell astrocytoma. Wikipedia 2015. https://en.wikipedia.org/wiki/Subependymal_giant_cell_astrocytoma. Accessed on November 4, 2015</ref><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=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref> Prognosis of subependymal giant cell astrocytoma is generally poor.<ref name="NabboutSantos1999">{{cite journal|last1=Nabbout|first1=R|last2=Santos|first2=M|last3=Rolland|first3=Y|last4=Delalande|first4=O|last5=Dulac|first5=O|last6=Chiron|first6=C|title=Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis|journal=Journal of Neurology, Neurosurgery & Psychiatry|volume=66|issue=3|year=1999|pages=370–375|issn=0022-3050|doi=10.1136/jnnp.66.3.370}}</ref>
| | Subependymal giant cell astrocytoma is generally located in the caudothalamic groove adjacent to the [[foramen of Monro]] and it presents commonly in the first two decades of life. It can lead to a few complications such as [[obstructive hydrocephalus]], intratumoral hemorrhage, and death. Although the [[prognosis]] may be poor, patients who undergo [[surgical resection]] and those below the age of 18 have a better [[prognosis]]. |
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| ==Diagnosis== | | ==Diagnosis== |
| ==Diagnostic Criteria== | | ===Diagnostic Study of Choice=== |
| The diagnosis of subependymal giant cell astrocytoma is based on the International Tuberous Sclerosis Complex Consensus criteria, which include a lesion at the caudothalamic groove with either a size of more than 1 cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. Most subependymal giant cell astrocytomas will show avid enhancement after contrast administration; however, a growing subependymal lesion even in the absence of enhancement should be considered a subependymal giant cell astrocytoma.<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>
| | There is no single diagnostic study of choice for the [[diagnosis]] of subependymal giant cell astrocytoma, but subependymal giant cell astrocytoma can be diagnosed based on [[contrast]] enhanced [[Magnetic resonance imaging|MRI]] and [[Computed tomography|CT scan]]. |
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| ==Staging== | | ===History and Symptoms=== |
| There is no established system for the staging of subependymal giant cell astrocytoma.<ref name="pmid18533376">{{cite journal| author=Chandana SR, Movva S, Arora M, Singh T| title=Primary brain tumors in adults. | journal=Am Fam Physician | year= 2008 | volume= 77 | issue= 10 | pages= 1423-30 | pmid=18533376 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18533376 }} </ref>
| | Patients with subependymal giant cell astrocytoma may have a positive history of [[tuberous sclerosis]], [[Seizure|seizures]], and [[personality changes]]. Some common [[symptoms]] that may be present include [[headaches]], [[nausea]], [[vomiting]], and cognitive decline. |
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| ==History and Symptoms== | | ===Physical examination=== |
| When evaluating a patient for subependymal giant cell astrocytoma, you should take a detailed history of the presenting symptom (onset, duration, and progression), other associated symptoms, and a thorough family and past medical history review. Other specific areas of focus when obtaining the history include review of common associated conditions such as [[tuberous sclerosis]].<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> Symptoms of subependymal giant cell astrocytoma include [[headache]], [[seizures]], [[vision loss]], [[Aphasia|changes in speech]], [[weakness|weakness in limbs]], and [[sensory loss]].<ref name="pmid23391693">{{cite journal| author=Jóźwiak S, Nabbout R, Curatolo P, participants of the TSC Consensus Meeting for SEGA and Epilepsy Management| title=Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. | journal=Eur J Paediatr Neurol | year= 2013 | volume= 17 | issue= 4 | pages= 348-52 | pmid=23391693 | doi=10.1016/j.ejpn.2012.12.008 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23391693 }} </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=symptomsofsegafghfh>Symptoms of subependymal giant cell astrocytoma. University of Pittsburgh Medical Center 2015. http://www.upmc.com/services/neurosurgery/brain/conditions/brain-tumors/pages/subependymal-giant-cell-astrocytoma.aspx. Accessed on November 5, 2015</ref>
| | Common [[physical examination]] findings in patients with subependymal giant cell astrocytoma include hypomelanotic macules, retinal hamartomas, sensory deficits, and [[muscle weakness]]. Because subependymal giant cell astrocytoma is predominantly seen in people with [[tuberous sclerosis]], the examination findings listed are those seen in [[tuberous sclerosis]] patients. |
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| ==Physical examination== | | ===Laboratory Findings=== |
| Common physical examination findings of subependymal giant cell astrocytoma include [[papilledema]], [[vision loss|vision field defects]], [[developmental delay]], [[mental retardation]], [[aphasia]], [[sensory loss]], and [[hemiparesis]].<ref name="SasongkoIsmail2015">{{cite journal|last1=Sasongko|first1=Teguh Haryo|last2=Ismail|first2=Nur Farrah Dila|last3=Nik Abdul Malik|first3=Nik Mohamad Ariff|last4=Zabidi-Hussin|first4=Z. A. M. H.|title=Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis|journal=Orphanet Journal of Rare Diseases|volume=10|issue=1|year=2015|issn=1750-1172|doi=10.1186/s13023-015-0317-7}}</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>
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| ==Laboratory Findings== | |
| There are no diagnostic lab findings associated with subependymal giant cell astrocytoma. | | There are no diagnostic lab findings associated with subependymal giant cell astrocytoma. |
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| ==CT== | | ===CT=== |
| Head CT scan may be helpful in the diagnosis of subependymal giant cell astrocytoma. On head CT scan, subependymal giant cell astrocytoma is characterized by an intraventricular mass near the [[foramen of Monro]], which is iso- or slightly hypoattenuating to the grey matter. Accompanying [[hydrocephalus]] may be present. There is marked enhancement on contrast administration.<ref name=CTfindings1>Radiographic CT features 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 4, 2015</ref> | | Head [[Computed tomography|CT scan]] may be helpful in the [[diagnosis]] of subependymal giant cell astrocytoma. On head [[Computed tomography|CT]], some of the findings that are suggestive of subependymal giant cell astrocytoma include a heterogenous mass with uniform post [[contrast]] enhancement, enlargement of the ventricles, and iso- or slightly hypoattenuating to [[grey matter]]. |
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| ==MRI== | | ===MRI=== |
| Brain MRI is helpful in the diagnosis of subependymal giant cell astrocytoma. On MRI, subependymal giant cell astrocytoma is characterized by hypo- to isointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There may be marked enhancement on contrast administration.<ref name=CTfindings1>Radiographic MRI features 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 4, 2015</ref> | | Brain [[Magnetic resonance imaging|MRI]] may be helpful in the [[diagnosis]] of subependymal giant cell astrocytoma. On [[Magnetic resonance imaging|MRI]], some of the findings suggestive of subependymal giant cell astrocytoma include T1 isointense and hypointense signal enhancement, T2 isointense and hyperintense signal enhancement, and enlargement of ventricles. |
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| ==Ultrasound== | | ===Ultrasound=== |
| There are no ultrasound findings associated with subependymal giant cell astrocytoma. | | There are no [[ultrasound]] findings associated with subependymal giant cell astrocytoma. |
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| ==Other Imaging Findings== | | ===Other Imaging Findings=== |
| There are no other imaging findings associated with subependymal giant cell astrocytoma. | | There are no other imaging findings associated with subependymal giant cell astrocytoma. |
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| ==Other Diagnostic Studies== | | ===Other Diagnostic Studies=== |
| There are no other diagnostic studies associated with subependymal giant cell astrocytoma. | | There are no other diagnostic studies associated with subependymal giant cell astrocytoma. |
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| ==Treatment== | | ==Treatment== |
| ==Medical Therapy== | | ===Medical Therapy=== |
| The predominant therapy for subependymal giant cell astrocytoma is surgical resection. Adjunctive chemotherapy may be required.<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=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref><ref name="pmid23391693">{{cite journal| author=Jóźwiak S, Nabbout R, Curatolo P, participants of the TSC Consensus Meeting for SEGA and Epilepsy Management| title=Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. | journal=Eur J Paediatr Neurol | year= 2013 | volume= 17 | issue= 4 | pages= 348-52 | pmid=23391693 | doi=10.1016/j.ejpn.2012.12.008 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23391693 }} </ref> | | The mainstay therapy for subependymal giant cell astrocytoma is [[surgery]], but medical therapy is preferred in some cases. Mammalian target of rapamycin (mTOR) inhibitors, [[everolimus]] and [[rapamycin]], are the medications used. They are capable of reducing the size of the [[tumor]] and in some cases, the [[tumors]] grow back after upon cessation of use. The most common [[side effects]] associated with the use of mTOR inhibitors are [[stomatitis]] and [[upper respiratory tract infections]]. |
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| ==Surgery== | | ===Interventions=== |
| [[Surgery]] is the mainstay of treatment for subependymal giant cell astrocytoma. [[Gamma Knife|Gamma knife radiosurgery]] has also been used to treat subependymal giant cell astrocytoma.<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=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref>
| | The mainstay of treatment for subependymal giant cell astrocytoma is [[surgery]] with medical therapy used in some cases. |
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| ==Primary Prevention== | | ===Surgery=== |
| | [[Surgery]] is the first line therapy for subependymal giant cell astrocytoma. It is preferably indicated in cases such as [[tumor]] growth, acute [[hydrocephalus]], and worsened [[seizure]] burden. The [[tumors]] that have invaded neighboring structures, those located bilaterally, and growing residual [[tumors]] are difficult to treat surgically. Medical therapy is favored in these cases. Some of the complications of [[surgical resection]] include transient [[memory loss]], [[infection]], and death. Gamma knife radiosurgery may also be used to treat subependymal giant cell astrocytoma with the risk of causing radiation-induced secondary [[tumor]]. |
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| | ===Primary Prevention=== |
| There is no established method for prevention of subependymal giant cell astrocytoma. | | There is no established method for prevention of subependymal giant cell astrocytoma. |
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| ==Secondary Prevention== | | ===Secondary Prevention=== |
| Effective measures for the secondary prevention of subependymal giant cell astrocytoma include brain imaging, preferably [[MRI|magnetic resonance imaging]] with and without contrast, which should be performed every 1 to 3 years until the age of 25 years in every patient with [[tuberous sclerosis]].<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> | | Effective measures for the [[secondary prevention]] of subependymal giant cell astrocytoma include [[brain imaging]], preferably [[MRI|magnetic resonance imaging]] with and without [[contrast]], which should be performed every 1 to 3 years until the age of 25 years in every patient with [[tuberous sclerosis]]. |
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| ==References== | | ==References== |
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| {{WikiDoc Help Menu}} | | {{WikiDoc Help Menu}} |
| {{WikiDoc Sources}} | | {{WikiDoc Sources}} |
| | [[Category:Up-To-Date]] |
| | [[Category:Oncology]] |
| | [[Category:Medicine]] |
| | [[Category:Neurology]] |
| | [[Category:Neurosurgery]] |
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 a benign tumor arising within the ventricles of the brain. It is almost exclusively associated with tuberous sclerosis, an autosomal dominant disorder associated with the inactivation of the tumor suppressor genes, TSC1 and/or TSC2. Subependymal giant cell astrocytoma is believed to arise from a subependymal nodule present in the ventricular wall of a patient with tuberous sclerosis. On microscopic histopathological analysis, it is characterized by pleomorphic multinuleated eosinophilic cells with abundant cytoplasm, arranged in a perivascular pseudopallisading pattern. Subependymal giant cell astrocytoma is a disease that tends to affect the pediatric, adolescent, and young adult population. Males are more commonly affected than females. According to the International Tuberous Sclerosis Complex Consensus, screening for subependymal giant cell astrocytoma by MRI is recommended every 1-3 years among patients with tuberous sclerosis, even in the absence of symptoms. If left untreated, patients with subependymal giant cell astrocytoma may progress to develop seizures, occlusion of the foramen of Monro with subsequent elevated intracranial pressure and obstructive hydrocephalus, infection, stroke, and death. Common complications of subependymal giant cell astrocytoma include obstructive hydrocephalus, intratumoral hemorrhage, and infection. Symptoms of subependymal giant cell astrocytoma include headache, seizures, vision loss, changes in speech, weakness in limbs, and sensory loss. Common physical examination findings of subependymal giant cell astrocytoma include papilledema, vision field defects, developmental delay, aphasia, sensory loss, and hemiparesis. Head CT scan and brain MRI may be helpful in the diagnosis of subependymal giant cell astrocytoma. On head CT scan, subependymal giant cell astrocytoma is characterized by an intraventricular mass near the foramen of Monro, which is iso- or slightly hypoattenuating to the grey matter. Accompanying hydrocephalus may be present. There is marked enhancement on contrast administration. On MRI, subependymal giant cell astrocytoma is characterized by hypo- to isointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There may be marked enhancement on contrast administration. Surgical resection is the mainstay treatment of subependymal giant cell astrocytoma but in certain cases, medical therapy such as everolimus is used.
Historical Perspective
In 2012, subependymal giant cell astrocytoma was described at the International Tuberous Sclerosis Complex Consensus Conference as a lesion located in the caudothalamic groove having a size of >1 cm in any direction or a subependymal lesion that has shown serial growth on consecutive imaging regardless of size and location.
Classification
There is no classification system established for subependymal giant cell astrocytoma.
Pathophysiology
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.
Causes
Subependymal giant cell astrocytoma is predominantly seen in patients with tuberous sclerosis complex which is caused by a mutation in the TSC1 and TSC2 tumor suppressor genes.
Differentiating Subependymal Giant Cell Astrocytoma from other Diseases
Subependymal giant cell astrocytoma must be differentiated from ependymoma, meningioma, tuberculoma, intraventricular hemorrhage, glioblastoma multiforme, primary CNS lymphoma, and cerebral metastases.
Epidemiology and Demographics
Subependymal giant cell astrocytoma is the most common central nervous system tumor in patients with tuberous sclerosis complex. Approximately 10-20% of patients with tuberous sclerosis develop subependymal giant cell astrocytoma. It is a disease that tends to commonly affect the pediatric population with males being more affected than females.
Risk factors
The most potent risk factor in the development of subependymal giant cell astrocytoma is tuberous sclerosis.
Screening
According to the International Tuberous Sclerosis Complex Consensus, screening for subependymal giant cell astrocytoma by MRI is recommended every 1-3 years among patients with tuberous sclerosis, even in the abscence of symptoms.
Natural History, Complications and Prognosis
Subependymal giant cell astrocytoma is generally located in the caudothalamic groove adjacent to the foramen of Monro and it presents commonly in the first two decades of life. It can lead to a few complications such as obstructive hydrocephalus, intratumoral hemorrhage, and death. Although the prognosis may be poor, patients who undergo surgical resection and those below the age of 18 have a better prognosis.
Diagnosis
Diagnostic Study of Choice
There is no single diagnostic study of choice for the diagnosis of subependymal giant cell astrocytoma, but subependymal giant cell astrocytoma can be diagnosed based on contrast enhanced MRI and CT scan.
History and Symptoms
Patients with subependymal giant cell astrocytoma may have a positive history of tuberous sclerosis, seizures, and personality changes. Some common symptoms that may be present include headaches, nausea, vomiting, and cognitive decline.
Physical examination
Common physical examination findings in patients with subependymal giant cell astrocytoma include hypomelanotic macules, retinal hamartomas, sensory deficits, and muscle weakness. Because subependymal giant cell astrocytoma is predominantly seen in people with tuberous sclerosis, the examination findings listed are those seen in tuberous sclerosis patients.
Laboratory Findings
There are no diagnostic lab findings associated with subependymal giant cell astrocytoma.
CT
Head CT scan may be helpful in the diagnosis of subependymal giant cell astrocytoma. On head CT, some of the findings that are suggestive of subependymal giant cell astrocytoma include a heterogenous mass with uniform post contrast enhancement, enlargement of the ventricles, and iso- or slightly hypoattenuating to grey matter.
MRI
Brain MRI may be helpful in the diagnosis of subependymal giant cell astrocytoma. On MRI, some of the findings suggestive of subependymal giant cell astrocytoma include T1 isointense and hypointense signal enhancement, T2 isointense and hyperintense signal enhancement, and enlargement of ventricles.
Ultrasound
There are no ultrasound findings associated with subependymal giant cell astrocytoma.
Other Imaging Findings
There are no other imaging findings associated with subependymal giant cell astrocytoma.
Other Diagnostic Studies
There are no other diagnostic studies associated with subependymal giant cell astrocytoma.
Treatment
Medical Therapy
The mainstay therapy for subependymal giant cell astrocytoma is surgery, but medical therapy is preferred in some cases. Mammalian target of rapamycin (mTOR) inhibitors, everolimus and rapamycin, are the medications used. They are capable of reducing the size of the tumor and in some cases, the tumors grow back after upon cessation of use. The most common side effects associated with the use of mTOR inhibitors are stomatitis and upper respiratory tract infections.
Interventions
The mainstay of treatment for subependymal giant cell astrocytoma is surgery with medical therapy used in some cases.
Surgery
Surgery is the first line therapy for subependymal giant cell astrocytoma. It is preferably indicated in cases such as tumor growth, acute hydrocephalus, and worsened seizure burden. The tumors that have invaded neighboring structures, those located bilaterally, and growing residual tumors are difficult to treat surgically. Medical therapy is favored in these cases. Some of the complications of surgical resection include transient memory loss, infection, and death. Gamma knife radiosurgery may also be used to treat subependymal giant cell astrocytoma with the risk of causing radiation-induced secondary tumor.
Primary Prevention
There is no established method for prevention of subependymal giant cell astrocytoma.
Secondary Prevention
Effective measures for the secondary prevention of subependymal giant cell astrocytoma include brain imaging, preferably magnetic resonance imaging with and without contrast, which should be performed every 1 to 3 years until the age of 25 years in every patient with tuberous sclerosis.
References
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