Detection of trisomy 12 in chronic lymphocytic leukaemia: comparison of a polymerase chain reaction based technique with fluorescence in situ hybridization

Br J Haematol. 1994 Aug;87(4):843-5. doi: 10.1111/j.1365-2141.1994.tb06748.x.

Abstract

Trisomy 12 is the most frequent chromosomal aberration in chronic lymphocytic leukaemia (CLL) and seems to indicate a poor prognosis. To detect this abnormality we tested the applicability of the polymerase chain reaction (PCR) and compared it to the current standard fluorescence in situ hybridization (FISH). Two DNA regions containing variable numbers of tandem repeats (VNTR) located on (a) the long and (b) the short arm of chromosome 12 were chosen for PCR analysis. 8/72 patients (11%) were trisomy 12 positive compared to 16% by FISH. Chromosomal imbalances were only detected by PCR if at least 20% of the cells carried the numerical aberration.

Publication types

  • Comparative Study

MeSH terms

  • Chromosomes, Human, Pair 12*
  • Gene Dosage
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Polymerase Chain Reaction*
  • Sensitivity and Specificity
  • Trisomy*