title: Genetic abnormalities in chronic lymphocytic leukemia: where we are and where we go.
abstract: Chromosomal abnormalities in chronic lymphocytic leukemia (CLL) are detected in up to 80% of patients. Among them, deletions of 11q, 13q, 17p, and trisomy 12 have a known prognostic value and play an important role in CLL pathogenesis and evolution, determining patients outcome and therapeutic strategies. Standard methods used to identify these genomic aberrations include both conventional G-banding cytogenetics (CGC) and fluorescence in situ hybridization (FISH). Although FISH analyses have been implemented as the gold standard, CGC allows the identification of chromosomal translocations and complex karyotypes, the latest associated with poor outcome. Genomic arrays have a higher resolution that allows the detection of cryptic abnormalities, although these have not been fully implemented in routine laboratories. In the last years, next generation sequencing (NGS) methods have identified a wide range of gene mutations (e.g., TP53, NOTCH1, SF3B1, and BIRC3) which have improved our knowledge about CLL development, allowing us to refine both the prognostic subgroups and better therapeutic strategies. Clonal evolution has also recently arisen as a key point in CLL, integrating cytogenetic alterations and mutations in a dynamic model that improve our understanding about its clinical course and relapse.
authors: Laboratori de Citogenètica Molecular, Servei de Patologia, Hospital del Mar, Passeig Marítim 25-29, 08003 Barcelona, Spain ; GRETNHE, Programa de Recerca en Càncer, Institut Hospital del Mar d'Investigacions Mèdiques, Doctor Aiguader 88, 08003 Barcelona, Spain.
authors: Anna
authors: 0000-0001-9627-4978
authors: A
authors: Puiggros
authors: Laboratori de Citogenètica Molecular, Servei de Patologia, Hospital del Mar, Passeig Marítim 25-29, 08003 Barcelona, Spain ; GRETNHE, Programa de Recerca en Càncer, Institut Hospital del Mar d'Investigacions Mèdiques, Doctor Aiguader 88, 08003 Barcelona, Spain ; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Doctor Aiguader 88, 08003 Barcelona, Spain.
authors: Gonzalo
authors: 0000-0001-6557-3764
authors: G
authors: Blanco
authors: Laboratori de Citogenètica Molecular, Servei de Patologia, Hospital del Mar, Passeig Marítim 25-29, 08003 Barcelona, Spain ; GRETNHE, Programa de Recerca en Càncer, Institut Hospital del Mar d'Investigacions Mèdiques, Doctor Aiguader 88, 08003 Barcelona, Spain.
authors: Blanca
authors: 0000-0002-4294-8145
authors: B
authors: Espinet
mesh_terms: D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D014314:Trisomy / Q000235:genetics*
chemical_list: D009363:Neoplasm Proteins