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Prognostic impact of somatic mutations and additional chromosomal abnormalities in patients with myelodysplastic syndromes and chromosome 20q deletion.


ABSTRACT: The 20q deletion (del(20q)) is a recurrent chromosomal abnormality in individuals with myelodysplastic syndrome (MDS) and is associated with favourable outcomes when isolated. This study aims to analyse the clinical features and prognostic impact of del(20q) based on cytogenetic and molecular alterations. Among 1,527 patients with MDS, 101 (6.6%) exhibited del(20q): 67 (66.3%) had isolated del(20q), 16 (15.8%) had one additional chromosome abnormality (ACA), and 18 (17.8%) had ≥ 2 additional chromosome abnormalities (ACAs). Patients with ≥ 2 ACAs experienced shorter overall survival (OS) (12 months vs. 35 months vs. 24 months, respectively, p = 0.046) and leukaemia-free survival (LFS) (NR vs. NR vs. 22 months, respectively, p = 0.030), than those with one ACA or isolated del(20q). The del(

SUBMITTER: Huang X 

PROVIDER: S-EPMC12165873 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature