Evidence map›Paper›PMID 40590913›Full record

ArticleAnnals of hematology2025

TRAF3IP3::FGFR1: a novel FGFR1 fusion identified in an aggressive case of acute myeloid leukemia.

Xue Chen, Lili Yuan, Xiaoli Ma, Fang Wang, Yang Zhang, Panxiang Cao, Ping Wu, Tong Wang, Jiaqi Chen, Xiaosu Zhou and 1 more

Abstract readCase ReportsLetter
In one paragraph

Article in Annals of hematology, 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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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Xue Chen *Division of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China.
Lili Yuan *Division of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China.
Xiaoli MaDivision of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China.
Fang WangDivision of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China.
Yang ZhangDivision of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China.
Panxiang CaoDivision of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China.
Ping WuDivision of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China.
Tong WangDivision of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China.
Jiaqi ChenDivision of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China.
Xiaosu ZhouPrecision Medicine Center, Beijing Lu Daopei Institute of Hematology, Beijing, China.
Hongxing LiuDivision of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China. starliu@pku.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Myeloid/lymphoid neoplasms with tyrosine kinase gene fusions (MLN-TK) are rare hematologic malignancies characterized by recurrent kinase rearrangements, including FGFR1, often associated with aggressive clinical behavior. We report the first case of acute myeloid leukemia (AML) harboring a novel TRAF3IP3::FGFR1 fusion, identified by whole transcriptome sequencing. The patient, a 35-year-old man, presented with monocytic AML and succumbed to disease within 40 days despite induction chemotherapy. Cytogenetic and molecular profiling revealed a complex monosomal karyotype and a pathogenic TP53 mutation, both known adverse prognostic markers. The in-frame fusion retained the coiled-coil domain of TRAF3IP3 and the full tyrosine kinase domain of FGFR1, suggesting preserved dimerization and oncogenic signaling. This case broadens the spectrum of FGFR1-rearranged neoplasms and highlights the importance of early genomic profiling in aggressive leukemia. It also underscores the potential therapeutic opportunities with FGFR1-targeted agents such as pemigatinib.

Indexed as

Leukemia, Myeloid, AcuteOncogene Proteins, FusionReceptor, Fibroblast Growth Factor, Type 1AdultFatal OutcomeHumansMaleFGFR1 protein, humanOncogene Proteins, FusionReceptor, Fibroblast Growth Factor, Type 1

Identifiers

PMID40590913
PMCPMC12552307

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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.