Resected tumor tissue can reveal genes involved in abnormal tissue growth.
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…