Evidence map›Paper›PMID 40512417›Full record

ArticleClinical and experimental medicine2025

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

Xinhui Huang, Xiao Li, Qi Liu, Juan Guo, Jianan Chen, Liyu Zhou, Luxi Song, Zheng Zhang, Jiying Su, Yumei Zhang and 6 more

Abstract read
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Article in Clinical and experimental medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

16 authors.

Xinhui Huang *Department of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Xiao Li *Department of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Qi LiuDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Juan GuoDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Jianan ChenDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Liyu ZhouDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Luxi SongDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Zheng ZhangDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Jiying SuDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Yumei ZhangDepartment of Hematology, Shanghai Eighth People's Hospital, Shanghai, 200233, China.
Meng YanDepartment of Hematology, Shanghai Eighth People's Hospital, Shanghai, 200233, China.
Qi HeDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Dong WuDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Feng XuDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Chunkang ChangDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China. changchunkang7010@aliyun.com.
Lingyun WuDepartment of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China. lincy2032@sjtu.edu.cn.

Funding

National Natural Science Foundation of China 82470143Shanghai Natural Science Foundation 22ZR1447700
6 · The paper itself

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(20q) with ACAs subgroup had a higher incidence of ≥ 2 mutations and a greater median number of molecular mutations (p = 0.049 and p = 0.047, respectively). Interestingly, we found that multiple mutations within the same gene were present in 8.7% (6/69) of the analyzed samples. Notably, TET2 was the most frequently observed gene with multiple mutations, constituting 66.7% (4/6) of all cases. Furthermore, samples with TET2 mutations exhibited a significantly higher median number of mutations compared to those without TET2 mutations (3.0 [Interquartile Range [IQR], 1, 4] vs. 1.0[0, 2], p = 0.003). Patients with ≥ 2 mutations showed poorer OS and LFS (p < 0.001 and p = 0.007, respectively) compared to those with fewer mutations. The presence of multiple mutations (hazard ratio [HR] = 2.777, p = 0.049), U2AF1 mutations (HR = 3.595, p = 0.010), TET2 mutations (HR = 7.178, p = 0.002), and bone marrow blasts ≥ 10% (HR = 5.727, p = 0.002) were independently associated with poorer OS. In summary, del(20q) with ACAs is associated with more molecular abnormalities, increased risk of acute myeloid leukaemia transformation, and shorter OS than isolated del(20q). U2AF1 and TET2 mutations predict poor prognosis in patients with del(20q) MDS.

Indexed as

Chromosome AberrationsChromosome DeletionChromosomes, Human, Pair 20MutationMyelodysplastic SyndromesAdultAgedAged, 80 and overDioxygenasesDNA-Binding ProteinsFemaleHumansMaleMiddle AgedPrognosisSurvival AnalysisDioxygenasesDNA-Binding ProteinsTET2 protein, human20q deletionGene mutationMyelodysplastic syndromesPrognosis

Identifiers

PMID40512417
PMCPMC12165873

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