Genomic and Epigenomic Alterations in Chronic Lymphocytic Leukemia
| Autor: | Julio Delgado, Xose S. Puente, Elias Campo, Ander Diaz-Navarro, Ferran Nadeu |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Epigenomics DNA Copy Number Variations Chronic lymphocytic leukemia Genomics Disease Biology Pathology and Forensic Medicine Epigenesis Genetic 03 medical and health sciences 0302 clinical medicine medicine Humans Epigenetics Gene Genetics Genome Human medicine.disease Leukemia Lymphocytic Chronic B-Cell 030104 developmental biology Regulatory sequence 030220 oncology & carcinogenesis Mutation Reprogramming |
| Zdroj: | Annual review of pathology. 15 |
| ISSN: | 1553-4014 |
| Popis: | Chronic lymphocytic leukemia is a common disease in Western countries and has heterogeneous clinical behavior. The relevance of the genetic basis of the disease has come to the forefront recently, with genome-wide studies that have provided a comprehensive view of structural variants, somatic mutations, and different layers of epigenetic changes. The mutational landscape is characterized by relatively common copy number alterations, a few mutated genes occurring in 10–15% of cases, and a large number of genes mutated in a small number of cases. The epigenomic profile has revealed a marked reprogramming of regulatory regions in tumor cells compared with normal B cells. All of these alterations are differentially distributed in clinical and biological subsets of the disease, indicating that they may underlie the heterogeneous evolution of the disease. These global studies are revealing the molecular complexity of chronic lymphocytic leukemia and provide new perspectives that have helped to understand its pathogenic mechanisms and improve the clinical management of patients. |
| Databáze: | OpenAIRE |
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