Evidence map›Paper›PMID 36799265›Full record

ArticleCancer medicine2023

Gene mutation analysis using next-generation sequencing and its clinical significance in patients with myeloid neoplasm: A multi-center study from China.

Junnan Li, Li Pei, Simin Liang, Shuangnian Xu, Yi Wang, Xiao Wang, Yi Liao, Qian Zhan, Wei Cheng, Zesong Yang and 6 more

Open access · goldAbstract readMulticenter Study
In one paragraph

Article in Cancer medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 15% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Biomolecules & biomedicine · 2024
    Article
  6. Prognostic impact ofTherapeutic advances in hematology · 2024
    Article
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 4 institutions in 1 country.

Junnan LiDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
Li PeiDepartment of Hematology, The First Affiliated Hospital of Army Medical University(Southwest Hospital), Chongqing, China.
Simin LiangDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
Shuangnian XuDepartment of Hematology, The First Affiliated Hospital of Army Medical University(Southwest Hospital), Chongqing, China.
Yi WangDepartment of Hematology, Shaanxi Provincial People's Hospital, Xi'An, Shaanxi, China.
Xiao WangDepartment of Hematology, Shaanxi Provincial People's Hospital, Xi'An, Shaanxi, China.
Yi LiaoDepartment of Oncology and Hematology, Chongqing University Affiliated Center Hospital, Chongqing, China.
Qian ZhanDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
Wei ChengDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
Zesong YangDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
Xiaoqiong TangDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
Hongbin ZhangDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
Qing XiaoDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
Jianbin ChenDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
Lin LiuDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
Li WangDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.ORCID 0000-0001-7692-5067
The Affiliated Yongchuan Hospital of Chongqing Medical University · CNArmy Medical University · CNShanxi Medical University · CNChongqing University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMyeloid neoplasms (MN) tend to relapse and deteriorate. Exploring the genomic mutation landscape of MN using next-generation sequencing (NGS) is a great measure to clarify the mechanism of oncogenesis and progression of MN.

methodsThis multicenter retrospective study investigated 303 patients with MN using NGS from 2019 to 2021. The characteristics of the mutation landscape in the MN subgroups and the clinical value of gene variants were analyzed.

resultsAt least one mutation was detected in 88.11% of the patients (267/303). TET2 was the most common mutation in the cohort, followed by GATA2, ASXL1, FLT3, DNMT3A, and TP53. Among patients with myeloid leukemia (ML), multivariate analysis showed that patients aged ≥60 years had lower overall survival (OS, p = 0.004). Further analysis showed TET2, NPM1, SRSF2, and IDH1 gene mutations, and epigenetic genes (p < 0.050) presented significantly higher frequency in older patients. In patients with myelodysplastic syndrome (MDS) and myelodysplastic neoplasms (MPN), univariate analysis showed that BCORL1 had a significant impact on OS (p = 0.040); however, in multivariate analysis, there were no factors significantly associated with OS. Differential analysis of genetic mutations showed FLT3, TP53, MUC16, SRSF2, and KDM5A mutated more frequently (p < 0.050) in secondary acute myeloid leukemia (s-AML) than in MDS and MPN. TP53, U2AF1, SRSF2, and KDM5A were mutated more frequently (p < 0.050) in s-AML than in primary AML. KDM5A was observed to be restricted to patients with s-AML in this study, and only co-occurred with MUC16 and TP53 (2/2, 100%). Another mutation was MUC16, and its co-occurrence pattern differed between s-AML and AML. MUC16 mutations co-occurred with KDM5A and TP53 in 66.7% (2/3) of patients with s-AML and co-occurred with CEBPA in 100% (4/4) of patients with AML.

conclusionsOur results demonstrate different genomic mutation patterns in the MN subgroups and highlight the clinical value of genetic variants.

Indexed as

Leukemia, Myeloid, AcuteMyelodysplastic SyndromesMyeloproliferative DisordersAgedChinaClinical RelevanceHigh-Throughput Nucleotide SequencingHumansMutationNucleophosminPrognosisRetinoblastoma-Binding Protein 2Retrospective StudiesKDM5A protein, humanNucleophosminRetinoblastoma-Binding Protein 2acute myeloid leukemiagene mutationmyeloid neoplasmnext-generation sequencing

Identifiers

PMID36799265
PMCPMC10166913
OpenAlexW4321172407

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.