Evidence map›Paper›PMID 37384868›Full record

ArticleJCO precision oncology2023

Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.

Elisabeth Wadensten, Sandra Wessman, Frida Abel, Teresita Diaz De Ståhl, Bianca Tesi, Christina Orsmark Pietras, Linda Arvidsson, Fulya Taylan, Susanne Fransson, Hartmut Vogt and 30 more

Open access · hybridAbstract read
In one paragraph

Article in JCO precision oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
6.5field-weighted citation impact, top 3% 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

24 citing papers in PubMed, 27 citations in OpenAlex.

  1. Observational
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Improving Global Access to Genomic Profiling in Rare Pediatric Cancers.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025
    Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article
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

40 authors at 9 institutions in 1 country.

Elisabeth WadenstenSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden.
Sandra WessmanClinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0002-2035-2092
Frida AbelDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID 0000-0001-6958-4487
Teresita Diaz De StåhlDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0001-5933-6623
Bianca TesiDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Christina Orsmark PietrasSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden.
Linda ArvidssonSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden.
Fulya TaylanDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-2907-0235
Susanne FranssonDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID 0000-0002-9713-3074
Hartmut VogtCrown Princess Victoria's Child and Youth Hospital in Linköping, and Division of Children's and Women's Health, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID 0000-0001-6009-7789
Anna PoluhaClinical Genetics, Uppsala University Hospital, Uppsala, Sweden.ORCID 0000-0002-4716-9423
Sailendra PradhanangaSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden.
Maria HellbergSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden.
Kristina Lagerstedt-RobinsonDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Praveen Raj SomarajanDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.ORCID 0009-0005-5981-2286
Sofie SamuelssonSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden.
Sara OrrsjöDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID 0009-0008-9223-3923
Khurram MaqboolDepartment of Microbiology, Tumor and Cell Biology, Clinical Genomics Stockholm, Science Life Laboratory, Karolinska Institutet, Solna, Sweden.ORCID 0000-0003-2981-2582
Karin HenningSection for Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden.
Tobias StridDepartment of Clinical Pathology and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
Torben EkDepartment of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg.ORCID 0000-0002-0518-983X
Henrik FagmanDepartment of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Thomas Olsson BontellDepartment of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Tommy MartinssonDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID 0000-0002-9403-3123
Florian PulsDepartment of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID 0000-0002-9841-4230
Per KognerSection for Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0002-2202-9694
Valtteri WirtaDepartment of Microbiology, Tumor and Cell Biology, Clinical Genomics Stockholm, Science Life Laboratory, Karolinska Institutet, Solna, Sweden.ORCID 0000-0003-3811-5439
Cornelis Jan PronkChildhood Cancer Centre, Skåne University Hospital, Lund, Sweden.ORCID 0000-0002-0073-9660
Joakim WilleChildhood Cancer Centre, Skåne University Hospital, Lund, Sweden.ORCID 0009-0008-6426-9830
Richard RosenquistClinical Genetics, Karolinska University Hospital, Solna, Sweden.ORCID 0000-0002-0211-8788
Monica NistérClinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0002-1261-3790
Fredrik MertensSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden.
Magnus SabelDepartment of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg.ORCID 0000-0002-3072-657X
Ulrika Norén-NyströmDepartment of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden.ORCID 0000-0001-5606-5442
Pernilla GrillnerSection for Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden.
Ann NordgrenDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID 0000-0003-3285-4281
Gustaf LjungmanDepartment of Women's and Children's Health, Uppsala University, Sweden.
Johanna SandgrenClinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0001-6776-2649
David GisselssonSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden.ORCID 0000-0002-0301-426X
Genomic Medicine Sweden Childhood Cancer Working Group
Karolinska University Hospital · SESahlgrenska University Hospital · SELund University · SESkåne University Hospital · SELinköping University · SEUppsala University · SEKarolinska Institutet · SEScience for Life Laboratory · SEUmeå University · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeSeveral studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in selected high-risk cases. However, the extent to which such characterization offers clinically actionable data in a prospective broadly inclusive setting remains largely unexplored.

methodsWe implemented prospective whole-genome sequencing (WGS) of tumor and germline, complemented by whole-transcriptome sequencing (RNA-Seq) for all children diagnosed with a primary or relapsed solid malignancy in Sweden. Multidisciplinary molecular tumor boards were set up to integrate genomic data in the clinical decision process along with a medicolegal framework enabling secondary use of sequencing data for research purposes.

resultsDuring the study's first 14 months, 118 solid tumors from 117 patients were subjected to WGS, with complementary RNA-Seq for fusion gene detection in 52 tumors. There was no significant geographic bias in patient enrollment, and the included tumor types reflected the annual national incidence of pediatric solid tumor types. Of the 112 tumors with somatic mutations, 106 (95%) exhibited alterations with a clear clinical correlation. In 46 of 118 tumors (39%), sequencing only corroborated histopathological diagnoses, while in 59 cases (50%), it contributed to additional subclassification or detection of prognostic markers. Potential treatment targets were found in 31 patients (26%), most commonly

conclusionUp-front, large-scale genomic characterization of pediatric solid malignancies provides diagnostically valuable data in the majority of patients also in a largely unselected cohort.

Indexed as

CarcinomaPrecision MedicineChildGene FusionGenomicsHumansNeoplasm Recurrence, Local

Identifiers

PMID37384868
PMCPMC10581599
OpenAlexW4382517856

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.