Cytogenetic studies in patients with Richter's syndrome

Cytogenetic studies in six patients with Richter's syndrome (RS) showed complex chromosome abnormalities and chromosomal instability in five. No specific chromosomal abnormality was detected. Chromosomes 14 and 11 were the most frequently involved. Neither deletion of 13q14 nor complete trisomy 12 was observed. Two patients had structural rearrangement of 12q with t(5;12)(q21-q22;q23-q24). The involvement of this region of chromosome 12 may be significant, although not specific for chronic lymphocytic leukemia. These results were compared to those found in cytogenetically studied RS patients from the literature.