title: Novel prognostic gene mutations identified in chronic lymphocytic leukemia and their impact on clinical practice.
abstract: Chronic lymphocytic leukemia (CLL) is a lymphoid malignancy characterized by progressive accumulation of mature lymphocytes in the peripheral blood, bone marrow, liver, and lymphoid organs. Although most patients with CLL have an insidious clinical course, a subset of cases present with fast evolution and chemotherapy resistance, leading to high morbidity and mortality. Few clinically validated prognostic markers, such as TP53, are available for use in clinical practice to guide treatment decisions. Recently, several novel prognostically relevant molecular markers have been identified in CLL. We conducted a narrative literature review of the latest findings to evaluate the potential inclusion of these markers in the management of CLL cases.
authors.affiliation: Department of Clinical Pathology and Hematology, Hospital Israelita Albert Einstein, São Paulo, Brazil. Electronic address: paulo.campregher@einstein.br.
authors.forename: Paulo Vidal
authors.initials: PV
authors.lastname: Campregher
authors.affiliation: Department of Clinical Pathology and Hematology, Hospital Israelita Albert Einstein, São Paulo, Brazil; Department of Hematology and Bone Marrow Transplantation, Hospital Israelita Albert Einstein, São Paulo, Brazil.
authors.forename: Nelson
authors.initials: N
authors.lastname: Hamerschlak
mesh_terms: D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics / Q000378:metabolism; D000075747:Baculoviral IAP Repeat-Containing 3 Protein; D014408:Biomarkers, Tumor; D006801:Humans; D051034:Inhibitor of Apoptosis Proteins / Q000235:genetics / Q000378:metabolism; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000378:metabolism / Q000401:mortality*; D009154:Mutation; D010750:Phosphoproteins / Q000235:genetics / Q000378:metabolism; D011379:Prognosis; D000072260:RNA Splicing Factors; D051881:Receptor, Notch1 / Q000235:genetics / Q000378:metabolism; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000235:genetics / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases
chemical_list: D014408:Biomarkers, Tumor; D051034:Inhibitor of Apoptosis Proteins; D010750:Phosphoproteins; D000072260:RNA Splicing Factors; D051881:Receptor, Notch1; D017413:Ribonucleoprotein, U2 Small Nuclear; C112491:SF3B1 protein, human; C494832:BIRC3 protein, human; D000075747:Baculoviral IAP Repeat-Containing 3 Protein; D044767:Ubiquitin-Protein Ligases; D064007:Ataxia Telangiectasia Mutated Proteins
keywords: B cell; Biological markers; Cancer; Drug resistance; Mutation