Immunohistochemical and microscopic studies on giant cells in tuberous sclerosis

J Jozwiak, S Jozwiak, P Skopinski - Histology and histopathology, 2005 - digitum.um.es
J Jozwiak, S Jozwiak, P Skopinski
Histology and histopathology, 2005digitum.um.es
Tuberous sclerosis (TSC) is an autosomal dominant disease, caused by mutations in TSC1
or TSC2 genes, encoding hamartin and tuberin, respectively. The clinical picture of the
disease is connected with the formation of hamartomas, mainly in the heart, kidneys and the
brain. In three types of brain lesions: cortical tubers, subependymal nodules and
subependymal giantcell astrocytoma (SEGA) characteristic, so-called “giant cells” are found.
In the present review we summarise immunohistochemical findings of two types of studies …
Tuberous sclerosis (TSC) is an autosomal dominant disease, caused by mutations in TSC1 or TSC2 genes, encoding hamartin and tuberin, respectively. The clinical picture of the disease is connected with the formation of hamartomas, mainly in the heart, kidneys and the brain. In three types of brain lesions: cortical tubers, subependymal nodules and subependymal giantcell astrocytoma (SEGA) characteristic, so-called “giant cells” are found. In the present review we summarise immunohistochemical findings of two types of studies performed on giant cells aiming at establishing the expression of hamartin and tuberin level and determining the presence of neuron- or astrocyte-specific markers. Moreover, we support our argument with the summary of ultrastructural research done with the purpose of demonstrating structures characteristic of neural and/or glial cells. We conclude that giant cells in cortical tubers and SEGAs are the same undifferentiated cells that, depending on individual determination, can show neural or glial features
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