Barrett’s esophagus: genetic features

The aim of the study was to evaluate the genetic characteristics of the pathological process in patients with biopsy-proven PB.
Materials and methods: Dynamic observation and treatment of patients with morphologically confi rmed diagnosis of Barrett’s esophagus (PB) was performed at the Bank of Russia Multidisciplinary medical center in Moscow in the period from 2014 to 2019.the study included 52 patients. Among them, men — 33 (63.4%) and women –19 (36.5%) aged from 28 to 70 years, the peak incidence was mainly in the age range from 50–71 years. As a result, morphological types of PB epithelium were identifi ed at the time of the study: cardiac — 8(15.3%), small — bowel — 25 (48%), large-bowel without dysplasia-17 (32.6%) and large-bowel with mild dysplasia foci –2 (3.8%).
The expression of the p53, P63, and Ki-67 genes responsible for cell proliferation and diff erentiation was studied using an immunohistochemical method.
Results. As a result of the study, it was found that genetic changes in patients with morphologically confi rmed PB increase from the cardiac type of epithelium in the segment to the detection of dysplasia foci on the background of colonic metaplasia. An exception is tokokishechnaya metaplasia, which may be an indirect sign of the development of highly diff erentiated epithelium in response to gastroesophageal or duodenogastroesophageal refl ux
Summary.
1. Mutation of the p 53 genes responsible for regulating cell transcription and activating apoptosis and the P63 gene responsible for cell diff erentiation occurs in all morphological types of PB, with the number of mutations increasing as metastatic changes progress in accordance with the Correa cascade
2. The combination of p53 and P63 gene mutations in almost equal proportions indicates parallel processes of cell proliferation and diff erentiation disorders.
3. Ki-67 expression increases from the cardiac type of epithelium in the segment to the detection of dysplasia foci on the background of metaplastic epithelium. An exception is tokokishechnaya metaplasia, which may be an indirect sign of the development of highly diff erentiated epithelium in response to gastroesophageal or duodenogastroesophageal refl ux.
Conclusion. Studies have shown that there are a number of genetic features of the pathological process in patients with morphologically confi rmed PB, the combination of which is more reliable and reliable assessment of the risk of neoplastic changes than individual indicators.
To date, it remains relevant to develop a marker panel that is suitable for use in clinical practice, informative for both assessing individual risk and stratifying risk groups, and useful for monitoring the eff ectiveness of treatment.

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