Significant cytogenomic evolution identified by SNP chromosome microarray analysis accompanies plasmablastic transformation of a hyperdiploid plasma cell myelomaJournal of Hematopathology (2017)
Plasma cell myeloma (PCM) is a hematological malignancy involving clonal proliferation of plasma cells in bone marrow. It is the third most common hematolymphoid malignancy in the USA and primarily affects elderly people with a median onset age of 69 years and a survival duration ranging from a few months to more than 10 years. This variation is due largely to the fact that PCM is a genetically complex and heterogeneous disease. The tumor cells demonstrate a wide range of morphological features, from mature and recognizable plasma cells to pleomorphic forms. In a subset of cases, however, the tumor cells demonstrate plasmablastic morphology which predicts a poor prognosis. We present a patient with an initial diagnosis of plasma cell myeloma with typical morphology and a hyperdiploid karyotype predictive of a favorable outcome. The patient’s disease was unresponsive to chemotherapy and evolved over the course of 43 months into a myeloma with plasmablastic features characterized by a highly complex abnormal karyotype demonstrating previously unidentified poor cytogenetic markers including CKS1B gene duplication and p53 gene deletion by fluorescence in situ hybridization (FISH). Post-mortem evaluation by single nucleotide polymorphism (SNP array) chromosome microarray analysis revealed additional structural abnormalities in the diagnostic specimen as well as significant genomic evolution in the plasmablastic myeloma.
- Plasma cell myeloma,
- Plasmablastic myeloma,
- Clonal evolution,
- SNP array
Publication DateNovember 21, 2017
Citation InformationMicale, M.A., Powers, S., Embrey, B. et al. Significant cytogenomic evolution identified by SNP chromosome microarray analysis accompanies plasmablastic transformation of a hyperdiploid plasma cell myeloma. J Hematopathol 10, 133–140 (2017). https://doi.org/10.1007/s12308-017-0309-8