Prognostic significance of 1q21 gain/amplification and co-existing cytogenetic abnormalities in Chinese patients with newly diagnosed multiple myeloma
Year: 2025
Type: conference-abstract
Abstract: Background: Chromosome 1q21 copy number gain (1q21+) has been identified as an independent adverse prognostic factor in newly diagnosed multiple myeloma (NDMM). However, current international and domestic guidelines do not recommend solitary 1q21+ (gain or amplification) as a sole criterion for defining high-risk (HR) disease. This study aimed to evaluate the prognostic value of chromosome 1q21 gain/ amplification (1q21+) and other cytogenetic abnormalities in Chinese patients with NDMM. Methods: We retrospectively analyzed NDMM patients treated between July 2013 and June 2022. Patients were stratified based on interphase FISH results into groups: no 1q21+, isolated 1q21+, 1q21+ with non-high-risk cytogenetic abnormalities (NHRCA), and 1q21+ with high-risk cytogenetic abnormalities (HRCA). Positivity cut-offs were defined as follows: ≥20% of cells for deletions and ≥10% of cells for translocations involving chromosome 14. Treatment response was assessed per IMWG criteria. Progression-free survival (PFS) was defined as the time from treatment initiation to disease progression, death, or end of follow-up, whichever occurred first. Overall survival (OS) was defined as the time from treatment initiation to death or end of follow-up, whichever occurred first. Results: A total of 658 patients were included (388 male; median age 63 years, range 31-88). 301 patients had 1q21+ (isolated: n=106; with NHRCA: n=92; with HRCA: n=103). With a follow-up cutoff of June 30, 2025 (median follow-up 47.9 months), the median progression-free survival (PFS) for the entire cohort was 37.2 months. Median PFS was 49.5 months for no 1q21+, 33.7 months for isolated 1q21+, 38.0 months for 1q21+ with NHRCA, and 18.2 months for 1q21+ with HRCA. Patients without 1q21+ had significantly superior PFS compared to all other groups combined (P<0.001), except when compared to the 1q21+ with NHRCA group (P=0.423); patients with 1q21+ and HRCA had significantly worse PFS than all other groups (P<0.001). The median overall survival (OS) for the entire cohort was 75.7 months. Median OS was 100.8 months for no 1q21+, 69.9 months for isolated 1q21+, 78.8 months for 1q21+ with NHRCA, and 39.8 months for 1q21+ with HRCA. Patients without 1q21+ had significantly superior OS compared to all other groups combined (P<0.01), except when compared to the 1q21+ with NHRCA group (P=0.427); patients with 1q21+ and HRCA had significantly worse OS than all other groups (P<0.01). Conclusion: 1q21 gain is a significant adverse prognostic factor in Chinese NDMM patients. Isolated 1q21+ significantly shortens PFS, while co-existence with HRCA drastically worsens survival outcomes (median OS <40 months). The impact of concomitant NHRCA on survival in patients with 1q21+ remains unclear and warrants further investigation. We recommend incorporating 1q21+ into risk stratification systems.
Source: Blood
Authors: Xinyuan Dai, YI LI, Gaofeng Zheng, Xiaoyan Han, Minlei Zhao, Yang Yang, Donghua He, Li Yang, Dan Cao, Lihong Shou, Linjie Li, Haowen Xiao, Wenjun Wu, Yi Zhao, Zhen Cai, Jingsong He
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4417002065
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