Determination of cutoff values to detect small aneuploid clones by interphase fluorescence in situ hybridization: the Poisson model is a more appropriate approach. Should single-cell trisomy 8 be considered a clonal defect?

Cancer Genet Cytogenet. 2003 Dec;147(2):99-109. doi: 10.1016/s0165-4608(03)00189-4.

Abstract

We applied a dual-color interphase in situ fluorescence hybridization (I-FISH) technique using centromeric probes specific to chromosomes 7 and 8 on 20 control samples in order to define the statistical model best suited to determine cutoff values for detection of small abnormal clones. We found that the Poisson model is a more appropriate approach than a Gaussian model. Then, based on the analysis of 91 samples from 80 patients with myelocytic malignant hemopathies and either clonal or nonclonal -7 or +8 as determined with conventional cytogenetics (CC), we compared the respective power of I-FISH and CC for detection of aneuploidy, with special emphasis on the potential contribution of I-FISH as a complement to CC in the case of small abnormal clones. The I-FISH results were positive in samples with clonal -7 or +8 according to CC analysis. Whereas I-FISH was negative in samples with nonclonal -7 according to CC, thus confirming the reliability of the criteria used to define the clonality of -7; the situation was different with nonclonal +8. I-FISH revealed the clonality of +8 in most samples with single-cell +8. In several cases, however, the unquestionable clonal nature of +8, as evidenced during follow-up, could not be established with either CC or I-FISH according to accepted criteria. Our data suggest that, in case of a single metaphase with +8, the general rule should be amended and the single-cell +8 should be considered and reported as potentially clonal.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aneuploidy
  • Chromosomes, Human, Pair 7
  • Chromosomes, Human, Pair 8*
  • Data Interpretation, Statistical
  • Humans
  • In Situ Hybridization, Fluorescence
  • Interphase / genetics
  • Leukemia, Myeloid / genetics
  • Monosomy* / diagnosis
  • Normal Distribution
  • Poisson Distribution
  • Trisomy / diagnosis*