title: Structural aberrations of chromosomes 17 and 12 in chronic B-cell disorders.
abstract: OBJECTIVE
  Genomic aberrations can now be identified in approximately 80% of chronic lymphocytic leukemia, small lymphocytic lymphoma (CLL/SLL) patients. In the present study, four new structural changes involving chromosomes 17 and 12 in CLL/SLL patients are described.
  
  
  METHODS
  Five patients were selected for inclusion in the present report among a total of 92 cases with diagnosis of CLL/SLL. Cytogenetic studies and fluorescence in situ hybridization (FISH) analysis to detect some of the most frequent cryptic aberrations occurring in CLL/SLL patients were performed. Clinical studies are also described.
  
  
  RESULTS
  Four cases showed structural rearrangements of chromosome 17. A psu dic(17;2)(p11.2;p21), leading to p53 deletion, was observed in a patient who developed a mixed cellularity Hodgkin's disease coexisting with the CLL/SLL in the same lymph node. Epstein Barr virus was detected in the Reed-Sternberg cells. Two cases had a balanced translocation t(2;17)(p21;q23). Both patients showed trisomy 12 and clonal evolution and one of them also had 11q deletion. In addition, a der(17)t(12;17)(q13;q25) as a part of a complex karyotype, and a complex translocation t(5;12;19) (q15;p11;q13) were also found. Four patients had an adverse clinical outcome and died because of disease progression.
  
  
  CONCLUSIONS
  Four unreported nonrandom chromosome aberrations in CLL/SLL patients, one of them who might represent a new recurrent abnormality, are described. These uncommon abnormalities, mostly associated with evolving disease, may have implications for the understanding of genetic events associated with disease progression in this pathology.
authors.affiliation: Department of Genética, Academia Nacional de Medicina, Buenos Aires, Argentina. rcerretini@hotmail.com
authors.forename: Roxana
authors.initials: R
authors.lastname: Cerretini
authors.forename: Christian
authors.initials: C
authors.lastname: Chena
authors.forename: Isabel
authors.initials: I
authors.lastname: Giere
authors.forename: Marcela
authors.initials: M
authors.lastname: Sarmiento
authors.forename: Guillermo
authors.initials: G
authors.lastname: Arrossagaray
authors.forename: Andrea
authors.initials: A
authors.lastname: Rodríguez
authors.forename: Raúl
authors.initials: R
authors.lastname: Pérez Bianco
authors.forename: Marcela
authors.initials: M
authors.lastname: de Dios Soler
authors.forename: Marina
authors.initials: M
authors.lastname: Narbaitz
authors.forename: Irma
authors.initials: I
authors.lastname: Slavutsky
mesh_terms: D000368:Aged; D001706:Biopsy; D001853:Bone Marrow / Q000648:ultrastructure; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017403:In Situ Hybridization; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008198:Lymph Nodes / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D014178:Translocation, Genetic; D014314:Trisomy