Del20q and Gain/Loss of Sex Chromosomes in Patients with Plasma Cell Neoplasm

Abstract

Abstract Aim Plasma cell neoplasm (PCN) is a clonal proliferation of plasma cells involving bone marrow and extramedullary anatomic sites. The purpose of this study is to investigate the prevalence and clinical significance of del20q and gain/loss of sex chromosomes in patients with PCN. Materials and Methods Routine karyotype analysis was performed on bone marrow aspirate specimens from patient with plasma cell neoplasm in the cytogenetics laboratory using the G-banding technology. Results from January 1, 2012 to June 21, 2019 were retrieved for analysis. Results Among the 8,665 karyotype results, 1,116 were abnormal and 593 demonstrated del20q and/or gain/loss of sex chromosomes. 33% (113/347) have bone marrow PCN when del20q and gain/loss of sex chromosomes occur in isolation, while 94% (256/250) have bone marrow PCN when 1 or more other autosomal abnormalities are also present. In those with isolated del20q or gain/loss of sex chromosomes, the frequency of bone marrow PCN ranges from 29–50%. Del20 occurs 1–6 years after therapy and in some patients is transient. Gain/loss of sex chromosome is generally present during the follow-up period. Conclusion Del20q and gain/loss of sex chromosomes do not appear to correlate with bone marrow PCN. Isolated Del20q likely represents transient treatment-related abnormality, while isolated gain/loss of sex chromosomes is probably age-related.