Flow cytometric DNA ploidy analysis of peripheral blood from patients with Sézary syndrome: Detection of aneuploid neoplastic T cells in the blood is associated with large cell transformation in tissue

We reviewed and screened 219 cutaneous T-cell lymphoma (CTCL) cases for Sézary syndrome (SS); 63 met the criteria for SS. Of these, 17 (27%) demonstrated circulating aneuploid cells and 46 (73%) showed only euploid cells in blood samples. Of 17 aneuploid cases, DNA ploidy study was essential for initial blood-based diagnosis of SS in 4 (24%) and important in monitoring minimal residual disease after treatment in 9 (53%) in which neoplastic T cells showed otherwise unremarkable or nonspecific flow cytometric immunophenotypic findings. Tissue biopsy slides (predominantly skin and lymph node) at the time of DNA ploidy studies were available for 47 of 63 cases. Of 14 cases with circulating aneuploid cells, 11 (79%) showed large cell transformation (LCT; 6 [43%]) or markedly increased large cells (ILC; 5 [36%]) in tissue, whereas only 10 (30%) of 33 euploid cases showed LCT (4 [12%]) or ILC (6 [18%]) (T < .01). There was no significant difference in blood tumor burden, immunophenotype, or proliferation index between euploid and aneuploid groups or histologic high- and low-grade groups. DNA ploidy study by flow cytometry is important for blood-based diagnosis of SS and detection of minimal residual disease in aneuploid SS after treatment. Detection of aneuploid neoplastic T cells in peripheral blood samples of patients with CTCL is associated with LCT in skin, lymph node, or other tissues.