Plasma cell leukemia (PCL) is a rare and highly aggressive plasma cell dyscrasia characterized by the presence of clonal circulating plasma cells in peripheral blood. PCL accounts for approximately 2-4% of all multiple myeloma (MM) cases. PCL can be classified in primary PCL (pPCL) when it appears de novo and in secondary PCL (sPCL) when it arises from a pre-existing relapsed/refractory MM. Despite the improvement in treatment modalities, the prognosis remains very poor. There is growing evidence that pPCL is a different clinicopathological entity as compared to MM, although the mechanisms underlying its pathogenesis are not fully elucidated. The development of new high-throughput technologies, such as microarrays and new generation sequencing (NGS), has contributed to a better understanding of the peculiar biological and clinical features of this disease. Relevant information is now available on cytogenetic alterations, genetic variants, transcriptome, methylation patterns, and non-coding RNA profiles. Additionally, attempts have been made to integrate genomic alterations with gene expression data. However, given the low frequency of PCL, most of the genetic information comes from retrospective studies with a small number of patients, sometimes leading to inconsistent results.
Keyphrases
- single cell
- gene expression
- high throughput
- rna seq
- multiple myeloma
- acute myeloid leukemia
- peripheral blood
- end stage renal disease
- genome wide
- dna methylation
- bone marrow
- newly diagnosed
- ejection fraction
- stem cells
- induced apoptosis
- chronic kidney disease
- peritoneal dialysis
- mesenchymal stem cells
- machine learning
- hodgkin lymphoma
- big data
- deep learning
- combination therapy