Investigation of the frequency of genetic disorders in the regions 9p21, 17p13 (TP53), and 11q13(CCND1) in the tissues of pituitary adenomas by fluorescent hybridization insitu

A study was conducted involving 14 patients in the control group and 38 patients in the experimental group. In the experimental group, pituitary adenomas of various morphologies and hormone profiles were examined using fluorescence in situ hybridization (FISH). The analysis targeted DNA regions of the CDKN 2A gene at 9p21, the TP53 gene at 17p13, and the CCND1 gene on chromosome 11q13. The objective was to assess the frequency of genetic alterations such as deletions/inactivations, duplications, or polysomy. The results revealed deletions/inactivations at 9p21, supporting the hypothesis that prolactin-secreting pituitary adenomas are associated with inactivation or deletion in this region. Additionally, duplications of 9p21 and polysomy of chromosome 9 were observed. It is hypothesized that duplications may be related to epigenetic dysregulation, such as hypermethylation of the CDKN 2A promoter, which is a common mechanism of gene inactivation. The highest frequency of deletions was detected at 17p13 (the TP53 gene), particularly in non-functioning pituitary adenomas. These findings confirm that deletion of 17p13 leads to reduced TP53 expression, potentially contributing to tumor development. In somatotropinomas, a high percentage of deletions and duplications was observed, likely reflecting both gene losses and compensatory genetic rearrangements, such as accumulation of mutant p53 forms. Deletions or inactivations of the 11q13 region (CCND1) were moderate and not characteristic of tumor processes, as loss of the CCND1 oncogene is generally not associated with tumorigenesis. However, complex genetic rearrangements may include the loss of the 11q13 region.

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