Chromosome abnormalities defined by conventional cytogenetics in plasma cell leukemia: what have we learned about its biology?

Cancer cells are characterized by having chromosomal abnormalities. The number of aberrations and the specific chromosomes affected are likely correlated with tumor progression. In this study, we analyzed the karyotype of 126 plasma cell leukemia (PCL) patients to identify the most frequently occurring imbalances and to design a model of karyotypic evolution. The Mitelman database of chromosome was searched and abnormal karyotypes were assessed. The main clones were analyzed and chromosomal gains and losses were used to design a model of genetic acquisition based on the calculation of a variable called time to occurrence. Our comprehensive study of genetic abnormalities of a large number of PCL karyotypes suggests that PCL is mainly characterized by the presence of whole chromosome losses as well as IgH rearrangements which is similar to that observed in non-hyperdiploid multiple myeloma (MM). Temporal analysis suggests that most PCL have around 10 abnormalities at diagnosis. It is possible that accumulation of abnormalities such as 17p13 (TP53) and 1p losses may trigger the extramedullary features of PCL. Our study demonstrates that cytogenetics is a valuable tool to evaluate the role of genetic imbalances on karyotypic evolution by using a mathematical model.