Evidence map›Paper›PMID 40316217›Full record

ArticleThe American journal of pathology2025

Identification of a Growth-Promoting Gene Cluster in the Region 2q24 as a Driver of Tumorigenesis in Childhood Hepatoblastoma.

Martin M Rodemann, Verena Dreschmann, Evelyn Dörner, Anette Sommer, Joern Kraetzschmar, Ludger Klein-Hitpass, Genta Nagae, Eiso Hiyama, Dietrich von Schweinitz, Roland Kappler and 2 more

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Article in The American journal of pathology, 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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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Martin M RodemannDepartment of Neuropathology, University of Bonn Medical Center, Bonn, Germany.
Verena DreschmannDepartment of Neuropathology, University of Bonn Medical Center, Bonn, Germany.
Evelyn DörnerDepartment of Neuropathology, University of Bonn Medical Center, Bonn, Germany.
Anette SommerBayer AG, Berlin, Germany.
Joern KraetzschmarBayer AG, Berlin, Germany.
Ludger Klein-HitpassInstitute of Cell Biology, University of Duisburg-Essen, Essen, Germany.
Genta NagaeGenome Science Laboratory, Research Center for Advanced Science and Technology, University of Tokyo, Tokyo, Japan.
Eiso HiyamaDepartment of Pediatric Surgery, Hiroshima University Hospital, Hiroshima, Japan; Department of Biomedical Science, Natural Science Center for Basic Research and Development, Hiroshima University, Hiroshima, Japan.
Dietrich von SchweinitzDepartment of Pediatric Surgery, Ludwig-Maximilians-University Hospital, Munich, Germany.
Roland KapplerDepartment of Pediatric Surgery, Ludwig-Maximilians-University Hospital, Munich, Germany.
Christian VokuhlPediatric Pathology, Department of Pathology, University of Bonn Medical Center, Bonn, Germany.
Torsten PietschDepartment of Neuropathology, University of Bonn Medical Center, Bonn, Germany. Electronic address: t.pietsch@uni-bonn.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hepatoblastoma (HB) represents the most common primary malignancy of the liver in childhood. Cytogenetic studies uncovered characteristic copy number alterations in HB. The frequent gain of chromosome 2q and particularly the recurrent 2q24 amplification suggest the presence of a so far unidentified oncogenic driver within this amplicon. Herein, high-resolution copy number profiles from 76 patients with HB were generated by using molecular inversion probe array technology. 2q gain was present in 63.2%, and 2q24 high-gain/amplification was present in 14.5% of patients analyzed. In the smallest overlapping region at 2q24.2q24.3, spanning >5.2 Mbp, 22 protein-coding genes, 2 long noncoding RNA genes, and one miRNA gene were mapped. RNA expression analysis of these smallest overlapping region genes identified RBMS1, BAZ2B, MARCH7, DPP4, FIGN, and TANK as overexpressed in 2q24 high-gain/amplified HB cases. Accordingly, these six genes were selected for further investigation. In situ, immunohistochemical staining showed higher protein expression of these genes in 2q24 high-gain HB tissue sections. In vitro, functional analyses were performed in established human HB cell lines carrying a 2q (high-)gain. Knockdown of these genes by specific siRNAs resulted in reduced proliferation and marked reduction of Wnt pathway activity. These genes located within the 2q24 amplicon might collaborate in driving cellular growth by interaction with the Wnt pathway that is known to be activated pathologically in HB.

Indexed as

CarcinogenesisChromosomes, Human, Pair 2HepatoblastomaLiver NeoplasmsMultigene FamilyCell Line, TumorCell ProliferationChildChild, PreschoolFemaleGene Expression Regulation, NeoplasticHumansInfantMaleWnt Signaling Pathway

Identifiers

PMID40316217
PMCPMC12405931

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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.