Subependymal giant cell astrocytoma overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
Subependymal giant cell astrocytoma is a low-grade astrocytic brain tumor (astrocytoma) that arises within the ventricles of the brain.[1] Russell et al was the first scientist to coin the term "subependymal giant cell astrocytoma".[2] Subependymal giant cell astrocytoma is believed to arise from a subependymal nodule present in the ventricular wall of a patient with tuberous sclerosis.[3][4] 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.[5] 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.[6][7] 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.[2][8] Subependymal giant cell astrocytoma is demonstrated by positivity to tumor markers such as GFAP, vimentin, S-100, neurofilament, and synaptophysin.[4][9][10][11] Subependymal giant cell astrocytoma must be differentiated from subependymal nodule, ependymoma, colloid cyst, tuberculoma, intraventricular hemorrhage, glioblastoma multiforme, primary CNS lymphoma, and cerebral metastases.[12][13][14] The incidence of subependymal giant cell astrocytoma is approximately 2.5 per 100,000 individuals in the United States.[5] Subependymal giant cell astrocytoma is a disease that tends to affect the pediatric, adolescent, and young adult population.[15][16] Males are more commonly affected with subependymal giant cell astrocytoma than females.[2][15] 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.[5][15] 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.[17] Common complications of subependymal giant cell astrocytoma include obstructive hydrocephalus, brain herniation, intratumoral hemorrhage, and infection.[15][18] Prognosis of subependymal giant cell astrocytoma is generally poor.[19] Symptoms of subependymal giant cell astrocytoma include headache, seizures, vision loss, changes in speech, weakness in limbs, and sensory loss.[2][20][21] Common physical examination findings of subependymal giant cell astrocytoma include papilledema, vision field defects, developmental delay, mental retardation, aphasia, sensory loss, and hemiparesis.[2][22] 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.[23] 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.[23] The predominant therapy for subependymal giant cell astrocytoma is surgical resection. Adjunctive chemotherapy may be required.[15][20]
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. 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. 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 TSC@ 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.
Surgery
Surgery is the mainstay of treatment for subependymal giant cell astrocytoma. Gamma knife radiosurgery has also been used to treat subependymal giant cell astrocytoma.[15]
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.[5]
References
- ↑ Introduction to subependymal giant cell astrocytoma. Wikipedia 2015. https://en.wikipedia.org/wiki/Subependymal_giant_cell_astrocytoma. Accessed on November 8, 2015
- ↑ 2.0 2.1 2.2 2.3 2.4 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.
- ↑ 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
- ↑ 4.0 4.1 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.
- ↑ 5.0 5.1 5.2 5.3 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.
- ↑ Final Diagnosis-Subependymal giant cell astrocytoma. upmc.edu 2015. http://path.upmc.edu/cases/case179/dx.html. Accessed on November 4, 2015
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ Hirose T, Scheithauer BW, Lopes MB, Gerber HA, Altermatt HJ, Hukee MJ; et al. (1995). "Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study". Acta Neuropathol. 90 (4): 387–99. PMID 8546029.
- ↑ Lopes MB, Altermatt HJ, Scheithauer BW, Shepherd CW, VandenBerg SR (1996). "Immunohistochemical characterization of subependymal giant cell astrocytomas". Acta Neuropathol. 91 (4): 368–75. PMID 8928613.
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 15.0 15.1 15.2 15.3 15.4 15.5 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.
- ↑ 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
- ↑ 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
- ↑ Surgery of subependymal giant cell astrocytoma. Wikipedia 2015. https://en.wikipedia.org/wiki/Subependymal_giant_cell_astrocytoma. Accessed on November 4, 2015
- ↑ Nabbout, R; Santos, M; Rolland, Y; Delalande, O; Dulac, O; Chiron, C (1999). "Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis". Journal of Neurology, Neurosurgery & Psychiatry. 66 (3): 370–375. doi:10.1136/jnnp.66.3.370. ISSN 0022-3050.
- ↑ 20.0 20.1 Jóźwiak S, Nabbout R, Curatolo P, participants of the TSC Consensus Meeting for SEGA and Epilepsy Management (2013). "Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations". Eur J Paediatr Neurol. 17 (4): 348–52. doi:10.1016/j.ejpn.2012.12.008. PMID 23391693.
- ↑ 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
- ↑ Sasongko, Teguh Haryo; Ismail, Nur Farrah Dila; Nik Abdul Malik, Nik Mohamad Ariff; Zabidi-Hussin, Z. A. M. H. (2015). "Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis". Orphanet Journal of Rare Diseases. 10 (1). doi:10.1186/s13023-015-0317-7. ISSN 1750-1172.
- ↑ 23.0 23.1 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