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30-10-2015 | Hematologic cancers | Article

Interpretation of cytogenetic results in multiple myeloma for clinical practice

A M Rajan, S V Rajkumar


The interpretation of cytogenetic abnormalities in multiple myeloma (MM) is often a challenging task. MM is characterized by several cytogenetic abnormalities that occur at various time points in the disease course. The interpretation of cytogenetic results in MM is complicated by the number and complexity of the abnormalities, the methods used to detect them and the disease stage at which they are detected. Specific cytogenetic abnormalities affect clinical presentation, progression of smoldering multiple myeloma (SMM) to MM, prognosis of MM and management strategies. The goal of this paper is to provide a review of how MM is classified into specific subtypes based on primary cytogenetic abnormalities and to provide a concise overview of how to interpret cytogenetic abnormalities based on the disease stage to aid clinical practice and patient management.

Blood Cancer J 2015; 5: e365. doi:10.1038/bcj.2015.92

Multiple myeloma (MM) is a cytogenetically heterogenous plasma cell malignancy.1, 2, 3 Several recurrent cytogenetic abnormalities are seen throughout the course of the disease, from the premalignant stage of monoclonal gammopathy of undetermined significance (MGUS) to smoldering multiple myeloma (SMM) to end-stage MM.4, 5 Some abnormalities start at the time of initial transformation of a normal plasma cell to the limited clonal proliferative state of MGUS, while some occur later in the disease course as the malignancy progresses to a more relapsed refractory state.6, 7, 8 Cytogenetic abnormalities in MM affect every aspect of the disease, from evolution of the malignancy to clinical presentation, response to therapy and prognosis. A given abnormality may have a totally different meaning based on the disease stage. For example, trisomies are associated with a higher risk of transformation from SMM to MM but lower risk of progression from onset of MM to end-stage disease.9, 10, 11 The sheer number and complexity of cytogenetic abnormalities that occur in MM and the multiple ways in which each can affect patient care and counseling make the evaluation and interpretation of cytogenetic abnormalities in MM a daunting task. The purpose of this review is to provide a concise and succinct overview of the interpretation of cytogenetic results in MM that is directly relevant to clinical practice.

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