Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41408-021-00576-3
Title: Genomic characterization of functional high-risk multiple myeloma patients
Authors: Soekojo, Cinnie Yentia
Chung, Tae-Hoon 
Furqan, Muhammad Shaheryar
Chng, Wee Joo 
Keywords: Science & Technology
Life Sciences & Biomedicine
Oncology
Hematology
GENE-EXPRESSION SIGNATURE
TOTAL THERAPY
CLASSIFICATION
PREDICTION
SURVIVAL
Issue Date: 31-Jan-2022
Publisher: SPRINGERNATURE
Citation: Soekojo, Cinnie Yentia, Chung, Tae-Hoon, Furqan, Muhammad Shaheryar, Chng, Wee Joo (2022-01-31). Genomic characterization of functional high-risk multiple myeloma patients. BLOOD CANCER JOURNAL 12 (1). ScholarBank@NUS Repository. https://doi.org/10.1038/s41408-021-00576-3
Abstract: Multiple myeloma (MM) patients with suboptimal response to induction therapy or early relapse, classified as the functional high-risk (FHR) patients, have been shown to have poor outcomes. We evaluated newly-diagnosed MM patients in the CoMMpass dataset and divided them into three groups: genomic high-risk (GHR) group for patients with t(4;14) or t(14;16) or complete loss of functional TP53 (bi-allelic deletion of TP53 or mono-allelic deletion of 17p13 (del17p13) and TP53 mutation) or 1q21 gain and International Staging System (ISS) stage 3; FHR group for patients who had no markers of GHR group but were refractory to induction therapy or had early relapse within 12 months; and standard-risk (SR) group for patients who did not fulfill any of the criteria for GHR or FHR. FHR patients had the worst survival. FHR patients are characterized by increased mutations affecting the IL-6/JAK/STAT3 pathway, and a gene expression profile associated with aberrant mitosis and DNA damage response. This is also corroborated by the association with the mutational signature associated with abnormal DNA damage response. We have also developed a machine learning based classifier that can identify most of these patients at diagnosis.
Source Title: BLOOD CANCER JOURNAL
URI: https://scholarbank.nus.edu.sg/handle/10635/228994
ISSN: 20445385
DOI: 10.1038/s41408-021-00576-3
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