Subependymal giant cell astrocytoma pathophysiology
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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
Pathophysiology
Genetic
- Development of subependymal giant cell astrocytoma is the result of multiple genetic mutations.
- Genes involved in the pathogenesis of subependymal giant cell astrocytoma include:[1]
- Both the genes, TSC1 and TSC2, are tumor suppressor genes.[1]
- TSC1 is located on chromosome 9q34 and TSC2 is located on chromosome 16p13.
- Protein products of the TSC1 and TSC2 genes, hamartin and tuberin, respectively, form a heterodimer that suppresses the mammalian target of rapamycin (mTOR), a major cell growth and proliferation controller. In tuberous sclerosis complex (TSC), increased mTOR activation leads to disorganized cellular overgrowth, abnormal differentiation, increased protein translation, and the formation of tumors.
Associated Conditions
- Subependymal giant cell astrocytomas are almost exclusively associated with tuberous sclerosis complex, which is an autosomal dominant disorder.[1]
- Subependymal giant cell astrocytomas are characteristic brain tumors that occur in 10% to 20% of tuberous sclerosis patients.
Gross Pathology
- On gross pathology, subependymal giant cell astrocytoma is characterized by:
- Subependymal giant cell astrocytoma typically arises at the caudothalamic groove adjacent to the foramen of Monro.[1]
- Other common intracranial sites associated with subependymal giant cell astrocytoma include:[1]
Microscopic pathology
On microscopic histopathological analysis, subependymal giant cell astrocytoma is characterized by:[2]
- Giant cells with nuclear atypia ("bizarre cells", "ganglioid cells")
- Vesicular nuclei
- Nuclear pseudoinclusions
- Glassy eosinophilic cytoplasm
- Elongated cells in a fibrillary background
- Abundant mast cells
- Lymphocytic infiltrates
- Endothelial proliferation
- Necrosis
According to the WHO classification of tumors of the central nervous system, subependymal giant cell astrocytoma is classified into a WHO grade I tumor.
Immunohistochemistry
Subependymal giant cell astrocytoma is demonstrated by positivity to tumor markers such as:
Reference
- ↑ 1.0 1.1 1.2 1.3 1.4 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.
- ↑ 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