Interpretation of cytogenetic results in multiple myeloma for clinical practice

Abstract

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.

Figure 1

Cytogenetic abnormalities in multiple myeloma. Primary cytogenetic abnormalities occur early when the normal plasma cell transitions to a clonal, premalignant stage. Most secondary cytogenetic abnormalities occur later in the disease course with malignant transformation or during progression of the malignancy. The effect of primary and secondary cytogenetic abnormalities on prognosis depends on the disease.