Cytogenetic profiles and their clinical significance in relapsed multiple myeloma

• Main Author: Lin, Qian Yu
• Other Authors: -
• Format: Final Year Project
• Language: English
• Published: Nanyang Technological University 2023
• Subjects: Science::Biological sciences
• Online Access: https://hdl.handle.net/10356/171641
• Institution: Nanyang Technological University

Multiple myeloma (MM) is a malignancy of monoclonal plasma cells. The overall survival varies from under two years to over ten years. The disease progresses from monoclonal gammopathy of undetermined clinical significance to smouldering multiple myeloma and eventually, MM. CCND1::IGH and/or trisomies are considered standard-risk cytogenetics. Conversely, FGFR3::IGH, IGH::MAF, gain/amp(1q21) and del(17p) on fluorescent in-situ hybridization (FISH), del(13) on karyotype, non-hyperdiploidy are high-risk cytogenetics. Our patients were divided into four subgroups comprising relapse, persistent, remission and transform based on their history of cytogenetic profiles. Transform subgroup was excluded from analysis due to limited numbers. Most patients harbor high-risk cytogenetics, but statistical significance was not observed among the three subgroups. Majority of the IGH translocations coexisted with del(RB1)/monosomy 13, with the most prevalent being FGFR3::IGH translocation. Gain/amp(1q21) and del(TP53)/monosomy 17 were significantly higher in the relapse subgroup, indicating their contribution to disease progression and poor prognosis. These were the top chromosomal abnormalities (CAs) gained and lost at relapse, respectively. The results suggest that patient prognosis solely based on standard- or high-risk may be insufficient. We also explored the evolution of CAs and other adverse predictors and discussed about the ongoing treatment and clinical trials available for patients with different CA profiles.