Hereditary syndromes in pediatric hematooncology
| Autor: | Valentina M. Kozlova, Ekaterina E. Zelenova, Timur T. Valiev, Vera V. Semenova, Tatiana N. Nasedkina, Svetlana N. Mikhailova |
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| Jazyk: | ruština |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Педиатрическая фармакология, Vol 20, Iss 6 (2023) |
| Druh dokumentu: | article |
| ISSN: | 1727-5776 2500-3089 |
| DOI: | 10.15690/pf.v20i6.2665 |
| Popis: | Hematooncological diseases head the list in the structure of malignant neoplasms of childhood. Somatic mutations in tumor clone cells have been well studied, included in modern classifications, and are used to stratify patients into prognostic risk groups and select a therapy program. At the same time, more than 50 hereditary syndromes associated with the development of hemoblastoses have been described. Some of them (Down’s syndrome, Klinefelter’s syndrome, microdeletion syndromes et al.) are caused by chromosomal pathology, while others describe alterations of one or more genes with different types of inheritance and age of manifestation of hematooncological diseases. Genes of predisposition to hematooncological diseases are involved in the processes of DNA repair, regulation of the cell cycle, immune response and bone marrow function. This article presents current data on genetic syndromes associated with the development of hemoblastosis with a description of their own clinical observations. |
| Databáze: | Directory of Open Access Journals |
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