title: Molecular genetics of high-risk chronic lymphocytic leukemia.
abstract: In an optimized management algorithm of chronic lymphocytic leukemia (CLL), the early identification of high-risk patients, ideally prior to treatment, is a prerequisite for designing strategies tailored at overcoming therapy resistance. TP53 abnormalities play a central role in our current understanding of the poor prognosis of high-risk CLL patients, but fail to explain the molecular basis of 50% of high-risk CLL. Next-generation sequencing studies have revealed several novel genetic alterations in high-risk CLL, including NOTCH1, SF3B1 and BIRC3 mutations. Alterations of these genes occur in 5-10% of CLL at diagnosis, show a prevalence that increases in the more advanced phases of the disease, and confer poor prognosis in consecutive CLL series.
authors.affiliation: Department of Translational Medicine, Division of Hematology, Amedeo Avogadro University of Eastern Piedmont, Via Solaroli 17, Novara, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Rossi
authors.forename: Gianluca
authors.initials: G
authors.lastname: Gaidano
mesh_terms: D000075747:Baculoviral IAP Repeat-Containing 3 Protein; D006801:Humans; D051034:Inhibitor of Apoptosis Proteins / Q000235:genetics; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D012307:Risk Factors; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D044767:Ubiquitin-Protein Ligases
chemical_list: D051034:Inhibitor of Apoptosis Proteins; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; C494832:BIRC3 protein, human; D000075747:Baculoviral IAP Repeat-Containing 3 Protein; D044767:Ubiquitin-Protein Ligases