Evidence map›Paper›PMID 37075810›Full record

ArticleNeuro-oncology2023

LOGGIC Core BioClinical Data Bank: Added clinical value of RNA-Seq in an international molecular diagnostic registry for pediatric low-grade glioma patients.

Emily C Hardin, Simone Schmid, Alexander Sommerkamp, Carina Bodden, Anna-Elisa Heipertz, Philipp Sievers, Andrea Wittmann, Till Milde, Stefan M Pfister, Andreas von Deimling and 27 more

Open access · bronzeAbstract readMulticenter Study
In one paragraph

Article in Neuro-oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
8.3field-weighted citation impact, top 2% of its field
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

20 citing papers in PubMed, 27 citations in OpenAlex.

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  12. Molecular-targeted therapy for childhood low-grade glial and glioneuronal tumors.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024
    Review
  13. ECLIM-SEHOP: how to develop a platform to conduct academic trials for childhood cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024
    Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

37 authors at 17 institutions in 19 countries.

Emily C HardinHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Simone SchmidDepartment of Neuropathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Alexander SommerkampHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Carina BoddenHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Anna-Elisa HeipertzHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Philipp SieversClinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Andrea WittmannHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Till MildeHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.ORCID 0000-0002-7267-1052
Stefan M PfisterHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.ORCID 0000-0002-5447-5322
Andreas von DeimlingClinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Svea HornCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, HIT-LOGGIC German Registry for children and adolescents with low-grade glioma, Berlin, Germany.
Nina A HerzCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, HIT-LOGGIC German Registry for children and adolescents with low-grade glioma, Berlin, Germany.
Michèle SimonCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, HIT-LOGGIC German Registry for children and adolescents with low-grade glioma, Berlin, Germany.
Ashwyn A PereraHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Amedeo AziziDivision of Neonatology, Pediatric Intensive Care and Neuropediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Ofelia CruzNeuro-Oncology Unit, Pediatric Cancer Center, Hospital Sant Joan de Deu, Barcelona, Spain.
Sarah CurryDepartment of Haematology and Oncology, Children's Health Ireland at Crumlin, Dublin, Ireland.
An Van DammeClinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Miklos Garami2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
Darren HargraveGreat Ormond Street Hospital for Children NHS Trust London, London, UK.
Antonis KattamisDepartment of Neuropathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Barbara Faganel KotnikDepartment of Haematology and Oncology, University Children's Hospital, University Medical Centre Ljubljana (UMC), Ljubljana, Slovenia.
Päivi LähteenmäkiTurku University and University Hospital, Turku, Finland.ORCID 0000-0002-5500-9606
Katrin ScheinemannDivision of Pediatric Oncology - Hematology, Department of Pediatrics, Kantonsspital Aarau, Aarau, Switzerland.
Antoinette Y N Schouten-van MeeterenDepartment of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.
Astrid SehestedHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Elisabetta ViscardiPediatric Oncology Unit, Padova University, Padova, Italy.
Ole Mikal WormdalSection of Pediatric Oncology, UNN University Hospital of Northern Norway, Tromsø, Norway.
Michal ZapotockyDepartment of Pediatric Hematology and Oncology, Second Faculty of Medicine, University Hospital Motol, Charles University, Prague, Czech Republic.
David S ZieglerKids Cancer Centre, Sydney Children's Hospital, High St, Randwick, NSW, Australia.ORCID 0000-0001-7451-7916
Arend KochDepartment of Neuropathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Pablo Hernáiz DrieverCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, HIT-LOGGIC German Registry for children and adolescents with low-grade glioma, Berlin, Germany.ORCID 0000-0003-3135-3872
Olaf WittHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
David CapperDepartment of Neuropathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID 0000-0003-1945-497X
Felix SahmClinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0001-5441-1962
David T W JonesHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Cornelis M van TilburgHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.ORCID 0000-0001-5274-910X
German Cancer Research Center · DEHumboldt-Universität zu Berlin · DECliniques Universitaires Saint-Luc · BENational and Kapodistrian University of Athens · GRCharles University · CZChildren's Health Ireland at Crumlin · IEGreat Ormond Street Hospital · GBHospital Sant Joan de Déu Barcelona · ESLjubljana University Medical Centre · SIMedical University of Vienna · ATPrincess Máxima Center · NLSemmelweis University · HUTurku University Hospital · FIUniversity Hospital of North Norway · NOUniversity of Lucerne · CHUniversity of Padua · ITUNSW Sydney · AU

Funding

Brain Tumour CharityDeutsche KinderkrebsstiftungPediatric Brain Tumor Foundation HIT-LOGGIC
6 · The paper itself

Abstract

backgroundThe international, multicenter registry LOGGIC Core BioClinical Data Bank aims to enhance the understanding of tumor biology in pediatric low-grade glioma (pLGG) and provide clinical and molecular data to support treatment decisions and interventional trial participation. Hence, the question arises whether implementation of RNA sequencing (RNA-Seq) using fresh frozen (FrFr) tumor tissue in addition to gene panel and DNA methylation analysis improves diagnostic accuracy and provides additional clinical benefit.

methodsAnalysis of patients aged 0 to 21 years, enrolled in Germany between April 2019 and February 2021, and for whom FrFr tissue was available. Central reference histopathology, immunohistochemistry, 850k DNA methylation analysis, gene panel sequencing, and RNA-Seq were performed.

resultsFrFr tissue was available in 178/379 enrolled cases. RNA-Seq was performed on 125 of these samples. We confirmed KIAA1549::BRAF-fusion (n = 71), BRAF V600E-mutation (n = 12), and alterations in FGFR1 (n = 14) as the most frequent alterations, among other common molecular drivers (n = 12). N = 16 cases (13%) presented rare gene fusions (eg, TPM3::NTRK1, EWSR1::VGLL1, SH3PXD2A::HTRA1, PDGFB::LRP1, GOPC::ROS1). In n = 27 cases (22%), RNA-Seq detected a driver alteration not otherwise identified (22/27 actionable). The rate of driver alteration detection was hereby increased from 75% to 97%. Furthermore, FGFR1 internal tandem duplications (n = 6) were only detected by RNA-Seq using current bioinformatics pipelines, leading to a change in analysis protocols.

conclusionsThe addition of RNA-Seq to current diagnostic methods improves diagnostic accuracy, making precision oncology treatments (MEKi/RAFi/ERKi/NTRKi/FGFRi/ROSi) more accessible. We propose to include RNA-Seq as part of routine diagnostics for all pLGG patients, especially when no common pLGG alteration was identified.

Indexed as

GliomaProto-Oncogene Proteins B-rafChildDNA-Binding ProteinsHumansPathology, MolecularPrecision MedicineProtein-Tyrosine KinasesProto-Oncogene ProteinsRNA-SeqTranscription FactorsDNA-Binding ProteinsProtein-Tyrosine KinasesProto-Oncogene ProteinsProto-Oncogene Proteins B-rafTranscription FactorsVGLL1 protein, humanactionable driversmolecular profilingpLGGrare gene fusionsRNA sequencing

Identifiers

PMID37075810
PMCPMC10628936
OpenAlexW4366365187

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Registered trials

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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.