Evidence map›Paper›PMID 36807339›Full record

ArticleBritish journal of cancer2023

Genomic ALK alterations in primary and relapsed neuroblastoma.

Carolina Rosswog, Jana Fassunke, Angela Ernst, Birgid Schömig-Markiefka, Sabine Merkelbach-Bruse, Christoph Bartenhagen, Maria Cartolano, Sandra Ackermann, Jessica Theissen, Mirjam Blattner-Johnson and 13 more

Registry-linked trialOpen access · hybridAbstract read
In one paragraph

Article in British journal of cancer, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06502210 (Identification of New Gene Spliceosomes in Neuroblastoma and Their Translational Application in Clinical Accurate Diagnosis and Therapy), which is not on this map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed
12.6field-weighted citation impact, top 1% 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.

NCT06502210 unknown statusnot on this mapstarted 2024, after this paper: background citation

Identification of New Gene Spliceosomes in Neuroblastoma and Their Translational Application in Clinical Accurate Diagnosis and Therapy

Typeobservational_patient_registrySponsorAffiliated Hospital of Nantong UniversityRan2024 to 2024Enrolled20ConditionsNeuroblastomaArmsPersonalized surgical therapy of neuroblastoma
3 · Its place in the literature

Who cites it

46 citing papers in PubMed, 61 citations in OpenAlex.

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  4. A comprehensive survey of genetic variants in neuroblastoma.Journal, genetic engineering & biotechnology · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors at 4 institutions in 1 country.

Carolina RosswogDepartment of Experimental Pediatric Oncology, University Children's Hospital of Cologne, Medical Faculty, University of Cologne, Cologne, Germany.ORCID http://orcid.org/0000-0002-8855-6198
Jana FassunkeInstitute of Pathology, University Hospital of Cologne, Cologne, Germany.ORCID http://orcid.org/0000-0002-8391-5577
Angela ErnstDepartment of Pediatric Oncology and Hematology, University Children's Hospital of Cologne, Medical Faculty, University of Cologne, Cologne, Germany.
Birgid Schömig-MarkiefkaInstitute of Pathology, University Hospital of Cologne, Cologne, Germany.
Sabine Merkelbach-BruseInstitute of Pathology, University Hospital of Cologne, Cologne, Germany.
Christoph BartenhagenDepartment of Experimental Pediatric Oncology, University Children's Hospital of Cologne, Medical Faculty, University of Cologne, Cologne, Germany.
Maria CartolanoCenter for Molecular Medicine Cologne (CMMC), Medical Faculty, University of Cologne, Cologne, Germany.
Sandra AckermannDepartment of Experimental Pediatric Oncology, University Children's Hospital of Cologne, Medical Faculty, University of Cologne, Cologne, Germany.ORCID http://orcid.org/0000-0002-5869-7344
Jessica TheissenDepartment of Experimental Pediatric Oncology, University Children's Hospital of Cologne, Medical Faculty, University of Cologne, Cologne, Germany.
Mirjam Blattner-JohnsonHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Barbara JonesHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Kathrin SchrammHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Janine AltmüllerCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Peter NürnbergCenter for Molecular Medicine Cologne (CMMC), Medical Faculty, University of Cologne, Cologne, Germany.
Monika OrtmannInstitute of Pathology, University Hospital of Cologne, Cologne, Germany.
Frank BertholdDepartment of Pediatric Oncology and Hematology, University Children's Hospital of Cologne, Medical Faculty, University of Cologne, Cologne, Germany.
Martin PeiferCenter for Molecular Medicine Cologne (CMMC), Medical Faculty, University of Cologne, Cologne, Germany.ORCID http://orcid.org/0000-0002-5243-5503
Reinhard BüttnerInstitute of Pathology, University Hospital of Cologne, Cologne, Germany.ORCID http://orcid.org/0000-0001-8806-4786
Frank WestermannDivision Neuroblastoma Genomics, B087, German Cancer Research Center and Hopp Children´s Cancer Center at the NCT (KiTZ), Heidelberg, Germany.
Johannes H SchulteDepartment of Paediatric Oncology and Haematology, Charité University Medical Centre Berlin, Berlin, Germany.ORCID http://orcid.org/0000-0003-0671-1201
Thorsten SimonDepartment of Pediatric Oncology and Hematology, University Children's Hospital of Cologne, Medical Faculty, University of Cologne, Cologne, Germany.ORCID http://orcid.org/0000-0002-3425-8451
Barbara HeroDepartment of Pediatric Oncology and Hematology, University Children's Hospital of Cologne, Medical Faculty, University of Cologne, Cologne, Germany.
Matthias FischerDepartment of Experimental Pediatric Oncology, University Children's Hospital of Cologne, Medical Faculty, University of Cologne, Cologne, Germany. matthias.fischer@uk-koeln.de.ORCID http://orcid.org/0000-0003-1363-1242
University of Cologne · DEUniversity Hospital Cologne · DEGerman Cancer Research Center · DECharité - Universitätsmedizin Berlin · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenomic alterations of the anaplastic lymphoma kinase gene (ALK) occur recurrently in neuroblastoma, a pediatric malignancy of the sympathetic nervous system. However, information on their development over time has remained sparse.

methodsALK alterations were assessed in neuroblastomas at diagnosis and/or relapse from a total of 943 patients, covering all stages of disease. Longitudinal information on diagnostic and relapsed samples from individual patients was available in 101 and 102 cases for mutation and amplification status, respectively.

resultsAt diagnosis, ALK point mutations occurred in 10.5% of all cases, with highest frequencies in stage 4 patients <18 months. At relapse, ALK alteration frequency increased by 70%, both in high-risk and non-high-risk cases. The increase was most likely due to de novo mutations, frequently leading to R1275Q substitutions, which are sensitive to pharmacological ALK inhibition. By contrast, the frequency of ALK amplifications did not change over the course of the disease. ALK amplifications, but not mutations, were associated with poor patient outcome.

conclusionsThe considerably increased frequency of ALK mutations at relapse and their high prevalence in young stage 4 patients suggest surveying the genomic ALK status regularly in these patient cohorts, and to evaluate ALK-targeted treatment also in intermediate-risk patients.

Indexed as

NeuroblastomaReceptor Protein-Tyrosine KinasesAnaplastic Lymphoma KinaseChildGenomicsHumansNeoplasm Recurrence, LocalAnaplastic Lymphoma KinaseReceptor Protein-Tyrosine Kinases

Identifiers

PMID36807339
PMCPMC10070426
OpenAlexW4321201503

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Registered trials

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.