Genetics

Cytogenetics

The most consistent, although not exclu sive, reported alterations have been at chromosomes 6q, 9p and 17p 12-13 regions. The t(6;9) (q21-24;p13-23) has been reported in several tumours and is considered to be a primary event in at least a subset of these tumours {657, 1220,1906,2238}.

Molecular genetics

Frequent losses at 12q (33%) 6q23-qter, 13q21-q22 and 19q regions (40%) have been reported {657}. A study of the 9p21 regions and the p16 gene found only one tumour with LOH at this region and no mutations of the gene {351}. A recent study of 25 tumours found a high frequency of LOH at 6q 23-25 and this alteration correlated with histologic grade and clinical behaviour {2098,2458). A recent genomic study identified new markers that may be helpful in future investigation of these tumours. Promoter methylation of the p16 was found in 20% of these tumours {1653}. Studies of other genes have been equally non-conclusive. Alterations of the p53 and Rb genes have been reported but no alterations in the K-ras have been found {2843}.

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