Evidence map›Paper›PMID 41317405›Full record

ArticleJournal of neuropathology and experimental neurology2025

RECQL4 alterations in gliomas and nerve sheath tumors: Expression patterns and therapeutic implications.

Sarra Belakhoua, Gianluca Lopez, Swati Dubey, Simran Rai, Liam Chen, Suping Chen, Aparna Pallavajjala, Ming Yuan, Melike Pekmezci, Marija Stojanova and 3 more

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In one paragraph

Article in Journal of neuropathology and experimental neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

13 authors.

Sarra BelakhouaDepartment of Pathology, New York University, New York City, NY, United States.
Gianluca LopezDepartment of Pathology and Laboratory Medicine, University of California, Los Angeles, CA, United States.
Swati DubeyDepartment of Pathology and Laboratory Medicine, University of California, Los Angeles, CA, United States.
Simran RaiDepartment of Pathology and Laboratory Medicine, University of California, Los Angeles, CA, United States.
Liam ChenDepartment of Pathology, University of Minnesota, Minneapolis, MN, United States.
Suping ChenDepartment of Pathology, Johns Hopkins University, Baltimore, MD, United States.
Aparna PallavajjalaDepartment of Pathology, Johns Hopkins University, Baltimore, MD, United States.
Ming YuanDepartment of Pathology, Johns Hopkins University, Baltimore, MD, United States.
Melike PekmezciDepartment of Pathology, University of California, San Francisco, San Francisco, CA, United States.
Marija StojanovaDepartment of Medicine, Boston Medical Center, Boston, MA, United States.
Christopher M HeaphyDepartment of Medicine, Boston Medical Center, Boston, MA, United States.
Charles G EberhartDepartment of Pathology, Johns Hopkins University, Baltimore, MD, United States.
Fausto J RodriguezDepartment of Pathology, New York University, New York City, NY, United States.ORCID 0000-0001-8662-1219

Funding

UCLA SPORE in Brain CancerP50CA211015 · NCI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Yvonne Yu-Hsuan Chen · 2017 to 2026
$25.2M
NCI NIH HHS P50 CA211015UCLA SPORE in Brain Cancer DOD W81XWH-18-1-0496UCLA SPORE in Brain Cancer P50CA211015
6 · The paper itself

Abstract

RECQL4 plays an important role in maintaining the integrity of the genome and regulating DNA replication. However, the role of RECQL4 in CNS tumors remains unknown. Sequencing data were reviewed and immunohistochemistry was performed on a variety of glial and nerve sheath tumors. Functional studies were performed in glioma (U251) and malignant peripheral nerve sheath tumors (MPNSTs) (NF90-8, ST88-14) cell lines following RECQL4 knockdown and treatment with ATR-inhibitors. Across 1580 CNS tumors, RECQL4 gene variants were identified in 71 cases (4.5%), with 21 (29.6%) of probable pathogenic significance. RECQL4 expression differed significantly across glioma subgroups (P = 0.012). Low-grade gliomas (diffuse: median H-score 57.5; circumscribed: median 130) showed lower expression than high-grade gliomas (median 145, P < 0.05). Neurofibromas displayed higher RECQL4 expression (median 160) compared with MPNSTs (median 97.5, P < 0.001). Among MPNSTs, NF1-associated cases (n = 24, median 95) expressed significantly less RECQL4 than sporadic cases (n = 8, median 162.5, P < 0.001). RECQL4 knockdown in glioma and MPNST cell lines resulted in increased apoptosis and susceptibility to ATR-inhibitors. Our findings show that RECQL4 expression has divergent patterns across tumor types and that targeting RECQL4 may dampen tumor survival and enhance susceptibility to ATR inhibitor therapy in CNS tumors.

Indexed as

Brain NeoplasmsGene Expression Regulation, NeoplasticGliomaNerve Sheath NeoplasmsRecQ HelicasesAdultCell Line, TumorFemaleHumansMaleMiddle AgedRecQ HelicasesRECQL4 protein, humanalternative lengthening of telomeresATR inhibitorsgliomasneurofibromatosis type 1RecQ helicases

Identifiers

PMID41317405
PMCPMC12713544

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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.