Large cell transformation of Sézary syndrome. A conventional and molecular cytogenetic study

Am J Clin Pathol. 2000 Jun;113(6):792-7. doi: 10.1309/4E9V-HBY1-TMBM-K3BY.

Abstract

Hyperdiploidy sometimes is found in mycosis fungoides-Sézary syndrome, but its diagnostic significance remains undefined. We report an unusual case of Sézary syndrome manifesting with leukemic large cell transformation. Conventional karyotypic analysis showed the presence of a near-tetraploid neoplastic clone. With dual-color cytometric analysis, we showed that the large Sézary cells were near-tetraploid with a DNA index of 1.86, thereby demonstrating a direct relationship between cell size and ploidy. Comparative genomic hybridization further showed chromosomal imbalances that were not revealed on conventional karyotyping. Our findings suggest that hyperdiploidy may be a marker of large cell transformation, so that when this karyotypic abnormality is found in mycosis fungoides-Sézary syndrome, a search for such a complication is indicated.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Cell Nucleus / ultrastructure
  • Cell Transformation, Neoplastic*
  • Chromosome Aberrations
  • Chromosome Disorders
  • Flow Cytometry
  • Humans
  • Karyotyping
  • Lymphoma, Large B-Cell, Diffuse / genetics
  • Lymphoma, Large B-Cell, Diffuse / pathology*
  • Male
  • Mycosis Fungoides / genetics
  • Mycosis Fungoides / pathology*
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / pathology*
  • Nucleic Acid Hybridization
  • Ploidies
  • Sezary Syndrome / genetics
  • Sezary Syndrome / pathology*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology*