title: Molecular characterization of chronic lymphocytic leukemia patients with a high number of losses in 13q14.
abstract: BACKGROUND
  Patients with chronic lymphocytic leukemia and 13q deletion as their only FISH abnormality could have a different outcome depending on the number of cells displaying this aberration. Thus, cases with a high number of 13q- cells (13q-H) had both shorter overall survival and time to first therapy. The goal of the study was to analyze the genetic profile of 13q-H patients.
  
  
  METHODS
  A total of 102 samples were studied, 32 of which served as a validation cohort and five were healthy donors.
  
  
  RESULTS
  Chronic lymphocytic leukemia patients with higher percentages of 13q- cells (>80%) showed a different level of gene expression as compared to patients with lower percentages (<80%, 13q-L). This deregulation affected genes involved in apoptosis and proliferation (BCR and NFkB signaling), leading to increased proliferation and decreased apoptosis in 13q-H patients. Deregulation of several microRNAs, such as miR-15a, miR-155, miR-29a and miR-223, was also observed in these patients. In addition, our study also suggests that the gene expression pattern of 13q-H cases could be similar to the patients with 11q- or 17p-.
  
  
  CONCLUSIONS
  This study provides new evidence regarding the heterogeneity of 13q deletion in chronic lymphocytic leukemia patients, showing that apoptosis, proliferation as well as miRNA regulation are involved in cases with higher percentages of 13q- cells.
authors.affiliation: IBSAL,IBMCC, Centro de Investigación del Cáncer, Universidad de Salamanca-CSIC, Salamanca, Spain.
authors.forename: Ana Eugenia
authors.initials: AE
authors.lastname: Rodríguez
authors.forename: Jose Ángel
authors.initials: JÁ
authors.lastname: Hernández
authors.forename: Rocío
authors.initials: R
authors.lastname: Benito
authors.forename: Norma C
authors.initials: NC
authors.lastname: Gutiérrez
authors.forename: Juan Luis
authors.initials: JL
authors.lastname: García
authors.forename: María
authors.initials: M
authors.lastname: Hernández-Sánchez
authors.forename: Alberto
authors.initials: A
authors.lastname: Risueño
authors.forename: M Eugenia
authors.initials: ME
authors.lastname: Sarasquete
authors.forename: Encarna
authors.initials: E
authors.lastname: Fermiñán
authors.forename: Rosa
authors.initials: R
authors.lastname: Fisac
authors.forename: Alfonso García
authors.initials: AG
authors.lastname: de Coca
authors.forename: Guillermo
authors.initials: G
authors.lastname: Martín-Núñez
authors.forename: Natalia
authors.initials: N
authors.lastname: de Las Heras
authors.forename: Isabel
authors.initials: I
authors.lastname: Recio
authors.forename: Oliver
authors.initials: O
authors.lastname: Gutiérrez
authors.forename: Javier
authors.initials: J
authors.lastname: De Las Rivas
authors.forename: Marcos
authors.initials: M
authors.lastname: González
authors.forename: Jesús M
authors.initials: JM
authors.lastname: Hernández-Rivas
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002882:Chromosomes, Human, Pair 13; D002886:Chromosomes, Human, Pair 17; D016000:Cluster Analysis; D005260:Female; D020869:Gene Expression Profiling; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D007135:Immunoglobulin Variable Region / Q000235:genetics; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000378:metabolism; D008297:Male; D035683:MicroRNAs / Q000235:genetics / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D015398:Signal Transduction
chemical_list: D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region; D035683:MicroRNAs