title: Relevance of IgVH gene somatic hypermutation and interphase cytogenetics in lymphomatous presentation of chronic lymphocytic leukemia/small lymphocytic lymphoma.
abstract: BACKGROUND
  Chronic lymphocytic leukemia (CLL) and small lymphocytic lymphoma (SLL) are regarded as the same entity, with SLL restricted to tissue cases featuring no leukemic phase. In this study, the authors evaluate a group of SLL cases for cytogenetic abnormalities and IgVH gene mutational status to illicit differences between CLL and SLL.
  
  
  METHODS
  IgVH gene polymerase chain reaction amplification and subsequent sequencing were preformed on formalin-fixed, paraffin-embedded archival tissue of 44 patients (SLL n = 34 or CLL n = 10). Cytogenetic data, CD38, and ZAP-70 expression were also evaluated for these cases.
  
  
  RESULTS
  The data indicate that 9/34 (26%) SLL cases have somatic hypermutation >2%, which is less than the CLL group where 40% were mutated (4/10). Cytogenetic abnormalities were seen in 58% of the SLL cases with many showing abnormalities associated with favorable to intermediate prognosis.
  
  
  CONCLUSIONS
  The authors' attempt to compare CLL with SLL with regards to cytogenetic and IgVH mutational status shows no statistically significant difference.
authors.affiliation: Department of Pathology and Immunology, Washington University, Saint Louis, MO, USA. cyeung@path.wustl.edu
authors.forename: Cecilia C S
authors.initials: CC
authors.lastname: Yeung
authors.forename: Michelle L E
authors.initials: ML
authors.lastname: Powers
authors.forename: Tu Dung
authors.initials: TD
authors.lastname: Nguyen
authors.forename: Friederike
authors.initials: F
authors.lastname: Kreisel
authors.forename: John L
authors.initials: JL
authors.lastname: Frater
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Zehnbauer
authors.forename: Richard
authors.initials: R
authors.lastname: Burack
authors.forename: Anjum
authors.initials: A
authors.lastname: Hassan
mesh_terms: D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D005260:Female; D005434:Flow Cytometry; D050438:Genes, Immunoglobulin Heavy Chain / Q000235:genetics*; D006801:Humans; D007135:Immunoglobulin Variable Region / Q000235:genetics*; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D027041:Somatic Hypermutation, Immunoglobulin / Q000235:genetics*
chemical_list: D007135:Immunoglobulin Variable Region