HISTOLOGY AND HISTOPATHOLOGY

Cellular and Molecular Biology

 

Review

Immunohistochemical and microscopic studies on giant cells in tuberous sclerosis

J. Jozwiak1, S. Jozwiak2 and P. Skopinski1

1Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland and 2Department of Pediatric Neurology, Children's Memorial Hospital, Warsaw, Poland

Offprint requests to: Dr. Jaroslaw Jozwiak, Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, 02-004 Warsaw, ul. Chalubinskiego 5, Poland. e-mail: jjozwiak@atdv.com.pl


Summary. 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 giant-cell 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. Histol Histopathol 20, 1321-1326 (2005)

Key words: Giant cells, Tuberous sclerosis, Ultrastructure

DOI: 10.14670/HH-20.1321