Evidence map›Paper›PMID 39105739›Full record

ArticleAnnals of hematology2024

Exploration of ETV6::ABL1-positive AML with concurrent NPM1 and FLT3-ITD mutations.

Hui-Dan Li, Si-Si Chen, Jing Ding, Chun-Ling Zhang, Hui-Yin Qiu, Xin-Xin Xia, Jun Yang, Xiao-Rui Wang

Abstract readCase Reports
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In one paragraph

Article in Annals of hematology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

8 authors.

Hui-Dan LiClinical Laboratory Medicine Center, Shanghai General Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200080, China.
Si-Si ChenClinical Research Center, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China.
Jing DingClinical Laboratory Medicine Center, Shanghai General Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200080, China.
Chun-Ling ZhangClinical Laboratory Medicine Center, Shanghai General Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200080, China.
Hui-Yin QiuDepartment of Hematology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China.
Xin-Xin XiaDepartment of Hematology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China.
Jun YangDepartment of Hematology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China. yangjuan74@sina.com.
Xiao-Rui WangClinical Laboratory Medicine Center, Shanghai General Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200080, China. Xiaorui.wang@shgh.cn.

Funding

Clinical Research Innovation Plan of Shanghai General Hospital CTCCR-2018BP03National Natural Science Foundation of China 81801582Shanghai Hospital Development Center SHDC2020CR1012B
6 · The paper itself

Abstract

ETV6::ABL1 is a rare fusion gene that found in MPN, ALL, and AML. It has a complex and diverse formation mechanism due to the reciprocal orientations of the ETV6 and ABL1 genes relative to the centromeres. NPM1 is frequently mutated in adult AML, often accompanied by FLT3-ITD, which suggests molecular synergisms in AML pathogenesis. Previous reports on ETV6::ABL1 mostly focus on FLT3-ITD. In this study, we present a case of AML with ETV6::ABL1, along with NPM1 and FLT3-ITD. The patient showed a rapid increase in primitive cells at the initial stage, along with the presence of immature granulocytes and erythrocytes. Through cytogenetic analysis, fluorescence in situ hybridization (FISH), and RNA-seq, we elucidated the mechanism behind the formation of the ETV6::ABL1 fusion gene. Despite conventional chemotherapy failure and rapid tumor proliferation, we attempted to add FLT3 inhibitor sorafenib to the treatment, along with chemotherapy bridging to haploidentical transplantation. After haplo-HSCT, a combination of sorafenib and dasatinib was administered as maintenance therapy. The patient achieved complete remission (CR) and maintained it for 11 months. The intricate genetic landscape observed in this case presents diagnostic dilemmas and therapeutic challenges, emphasizing the importance of a comprehensive understanding of its implications for disease classification, risk stratification, and treatment selection.

Indexed as

ETS Translocation Variant 6 Proteinfms-Like Tyrosine Kinase 3Leukemia, Myeloid, AcuteMutationNuclear ProteinsNucleophosminOncogene Proteins, FusionProto-Oncogene Proteins c-etsRepressor ProteinsAdultAntineoplastic Combined Chemotherapy ProtocolsDasatinibFemaleHematopoietic Stem Cell TransplantationHumansMaleABL1 protein, humanDasatinibETS Translocation Variant 6 ProteinFLT3 protein, humanfms-Like Tyrosine Kinase 3NPM1 protein, humanNuclear ProteinsNucleophosminOncogene Proteins, FusionProto-Oncogene Proteins c-ablProto-Oncogene Proteins c-etsRepressor ProteinsSorafenibAllo-HSCTAMLDual TKIs therapyETV6:ABL1FLT3-ITDNPM1

Identifiers

PMID39105739

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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.