Cytogenetic profiles and their clinical significance in relapsed multiple myeloma

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 trisomie...

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Main Author: Lin, Qian Yu
Other Authors: -
Format: Final Year Project (FYP)
Language:English
Published: Nanyang Technological University 2023
Subjects:
Online Access:https://hdl.handle.net/10356/171641
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author Lin, Qian Yu
author2 -
author_facet -
Lin, Qian Yu
author_sort Lin, Qian Yu
collection NTU
description 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.
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spelling ntu-10356/1716412023-11-06T15:33:12Z Cytogenetic profiles and their clinical significance in relapsed multiple myeloma Lin, Qian Yu - School of Biological Sciences Cytogenetics laboratory at Academia at Singapore General Hospital Alvin Lim Soon Tiong alvin.lim.s.t@sgh.com.sg Science::Biological sciences 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. Bachelor of Science in Biological Sciences 2023-11-02T02:50:28Z 2023-11-02T02:50:28Z 2023 Final Year Project (FYP) Lin, Q. Y. (2023). Cytogenetic profiles and their clinical significance in relapsed multiple myeloma. Final Year Project (FYP), Nanyang Technological University, Singapore. https://hdl.handle.net/10356/171641 https://hdl.handle.net/10356/171641 en SBS23-087 application/pdf Nanyang Technological University
spellingShingle Science::Biological sciences
Lin, Qian Yu
Cytogenetic profiles and their clinical significance in relapsed multiple myeloma
title Cytogenetic profiles and their clinical significance in relapsed multiple myeloma
title_full Cytogenetic profiles and their clinical significance in relapsed multiple myeloma
title_fullStr Cytogenetic profiles and their clinical significance in relapsed multiple myeloma
title_full_unstemmed Cytogenetic profiles and their clinical significance in relapsed multiple myeloma
title_short Cytogenetic profiles and their clinical significance in relapsed multiple myeloma
title_sort cytogenetic profiles and their clinical significance in relapsed multiple myeloma
topic Science::Biological sciences
url https://hdl.handle.net/10356/171641
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