Evidence map›Paper›PMID 39186080›Full record

ArticleVirchows Archiv : an international journal of pathology2025

Identification of a novel RAB6A::TOP2A fusion in acute non-promyelocytic leukemia harboring t(11;17)(q13;q21) translocation.

Zhan Su, Yahui Du, Chenglu Yuan, Xianzhi Zhao, Xiaoshan Zhang, Hongqing Cui, Ting Yue, Hongguo Zhao, Wei Wang

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In one paragraph

Article in Virchows Archiv : an international journal of pathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

9 authors.

Zhan SuDepartment of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, 266000, China.
Yahui DuDepartment of Hematology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, 266035, China.
Chenglu YuanDepartment of Hematology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, 266035, China.
Xianzhi ZhaoDepartment of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, 266000, China.
Xiaoshan ZhangDepartment of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, 266000, China.
Hongqing CuiDepartment of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, 266000, China.
Ting YueDepartment of Hematology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, 266035, China.
Hongguo ZhaoDepartment of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, 266000, China. zhao6201@126.com.
Wei WangDepartment of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, 266000, China. 18661807392@163.com.

Funding

Clinical medicine + X Grant of the Affiliated Hospital of Qingdao University QDFY+X2021045
6 · The paper itself

Abstract

Fusion genes generally serve as driver mutations in leukemia. The rearrangement of the RARA gene located on chromosome 17q21 is a molecular pathological feature of acute promyelocytic leukemia (APL). A series of RARA-involved fusion genes have been identified in variant APL, including one carrying the t(11;17)(q13;q21) translocation, resulting in the NUMA1::RARA fusion gene. Here, we present an interesting case where blasts carry the t(11;17)(q13;q21), but the cell morphology does not exhibit signs of promyelocytic differentiation. Transcriptome sequencing identified a novel fusion gene, RAB6A::TOP2A, with a frameshift mutation in the reading frame. The patient did not respond to all-trans retinoic acid (ATRA) treatment.

Indexed as

Chromosomes, Human, Pair 11Chromosomes, Human, Pair 17DNA-Binding ProteinsLeukemia, Promyelocytic, AcuteOncogene Proteins, Fusionrab GTP-Binding ProteinsTranslocation, GeneticFrameshift MutationHumansRetinoic Acid Receptor alphaDNA-Binding ProteinsOncogene Proteins, Fusionrab GTP-Binding ProteinsRetinoic Acid Receptor alphaFusion geneLeukemiaRAB6ATOP2A

Identifiers

PMID39186080

What OpenQuestion holds

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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.