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Abstract
Heritable TP53-related cancer syndrome (abbreviated as hTP53rc), which was previously called «Li-Fraumeni syndrome», is a heterogeneous group of tumors. It is characterized by the occurrence of a hereditary mutation in the TP53 gene.
In the last decade, the concept of hTP53rc has changed due to the accumulation of information about the disease. For example, the criteria for diagnosis and screening, as well as treatment approaches, have changed.
The structure of the syndrome has been modified: it has now been established that different age groups are characterized by their own unique spectrum of localizations. New localizations are being discovered that were previously considered not typical for hTP53rc (for example, lung cancer in elderly patients aged 50 and over).
It was discovered that patients with hTP53rc should avoid genotoxic chemotherapy and radiation therapy due to the high risk of developing secondary tumors and focus more on surgical methods of treatment. So recently developed screening protocols include serious measures for the prevention of malignant neoplasms, since early detection of hTP53rc plays a significant role in increasing life expectancy. The diagnosis of hTP53rc in clinical practice is hindered in some cases, since it is not always possible to suspect the carrier of a hereditary mutation.
At the same time, the approaches of molecular diagnostics are becoming more accessible due to the rapid spread of next generation sequencing into laboratory practice. For this reason, the detection of mutations in the TP53 gene in the world has increased gradually.
In Russia, hTP53rc diagnostics is limited to the description of individual cases. Technological progress is likely to quickly eliminate the limitations in diagnosis, and the number of detected cases will grow from year to year. Regarding to treatment and prognosis, there are a number of features that require consideration of each case separately.
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