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Major progress has been made in cancer prognosis and treatment by determining involvement of specific chromosomal abnormalities. Identification of chromosomal rearrangements provides insight into specific genes involved with a given cancer type. In hypothalamic hamartoma, 5% of cases are associated with Pallister-Hall syndrome, which is caused by the loss of a functional GLI3 gene. Researchers examined DNA from peripheral blood and hypothalamic hamartoma tissue from 55 patients with refractory epilepsy at a single institution who were undergoing surgical resection of their tumors.
Using a variety of molecular techniques, the researchers identified chromosomal abnormalities in the GLI3 gene locus in 8 of the 55 tissue samples (15%). These abn…