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Search: L773:2473 4284 > (2023) > Diagnostic Yield Fr...

  • Wadensten, ElisabethSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden;Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, BMC C13, SE-221 84, Lund, Sweden (author)

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

  • Article/chapterEnglish2023

Publisher, publication year, extent ...

  • American Society of Clinical Oncology,2023
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:liu-200793
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-200793URI
  • https://doi.org/10.1200/po.23.00039DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Funding Agencies|Swedish Childhood Cancer Fund; Swedish Government; Swedish Research Council [2018-05661]
  • Purpose: Several 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.Methods: We 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.Results: During 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 ALK mutations/fusions (n = 4), RAS/RAF/MEK/ERK pathway mutations (n = 14), FGFR1 mutations/fusions (n = 5), IDH1 mutations (n = 2), and NTRK2 gene fusions (n = 2). In one patient, the tumor diagnosis was revised based on sequencing. Clinically relevant germline variants were detected in 8 of 94 patients (8.5%).Conclusion: Up-front, large-scale genomic characterization of pediatric solid malignancies provides diagnostically valuable data in the majority of patients also in a largely unselected cohort.

Subject headings and genre

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  • Wessman, SandraClinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden;Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden (author)
  • Abel, FridaDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden (author)
  • Diaz De Ståhl, TeresitaDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden (author)
  • Tesi, BiancaDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;Clinical Genetics, Karolinska University Hospital, Solna, Sweden;Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden (author)
  • Orsmark Pietras, ChristinaSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden;Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, BMC C13, SE-221 84, Lund, Sweden (author)
  • Arvidsson, LindaSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden;Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, BMC C13, SE-221 84, Lund, Sweden (author)
  • Taylan, FulyaDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;Clinical Genetics, Karolinska University Hospital, Solna, Sweden (author)
  • Fransson, SusanneDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden (author)
  • Vogt, Hartmut,MP, PhD,1970-Linköpings universitet,Medicinska fakulteten,Institutionen för biomedicinska och kliniska vetenskaper,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus(Swepub:liu)harki85 (author)
  • Poluha, AnnaClinical Genetics, Uppsala University Hospital, Uppsala, Sweden;Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden (author)
  • Pradhananga, SailendraSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden (author)
  • Hellberg, MariaSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden (author)
  • Lagerstedt-Robinson, KristinaDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;Clinical Genetics, Karolinska University Hospital, Solna, Sweden (author)
  • Raj Somarajan, PraveenDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden (author)
  • Samuelsson, SofieSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden;Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, BMC C13, SE-221 84, Lund, Sweden (author)
  • Orrsjö, SaraDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden (author)
  • Maqbool, KhurramDepartment of Microbiology, Tumor and Cell Biology, Clinical Genomics Stockholm, Science Life Laboratory, Karolinska Institutet, Solna, Sweden (author)
  • Henning, KarinSection for Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden;Childhood Cancer Research Unit, Department for Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden (author)
  • Strid, Tobias,1982-Linköpings universitet,Medicinska fakulteten,Avdelningen för cellbiologi,Region Östergötland, Klinisk patologi(Swepub:liu)tobst76 (author)
  • Ek, TorbenDepartment of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg;Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden (author)
  • Fagman, HenrikDepartment of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden (author)
  • Olsson Bontell, ThomasDepartment of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Physiology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden (author)
  • Martinsson, TommyDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden (author)
  • Puls, FlorianDepartment of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden (author)
  • Kogner, PerSection for Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden;Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden (author)
  • Wirta, ValtteriDepartment of Microbiology, Tumor and Cell Biology, Clinical Genomics Stockholm, Science Life Laboratory, Karolinska Institutet, Solna, Sweden;Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden;School of Engineering Sciences in Chemistry, Biotechnology and Health, Clinical Genomics Stockholm, Science Life Laboratory, KTH Royal Institute of Technology, Stockholm, Sweden (author)
  • Pronk, Cornelis JanChildhood Cancer Centre, Skåne University Hospital, Lund, Sweden (author)
  • Wille, JoakimChildhood Cancer Centre, Skåne University Hospital, Lund, Sweden (author)
  • Rosenquist, RichardClinical Genetics, Karolinska University Hospital, Solna, Sweden;Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden (author)
  • Nistér, MonicaClinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden;Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden (author)
  • Mertens, FredrikSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden;Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, BMC C13, SE-221 84, Lund, Sweden (author)
  • Sabel, MagnusDepartment of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg;Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden (author)
  • Norén-Nyström, UlrikaDepartment of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden (author)
  • Grillner, PernillaSection for Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden (author)
  • Nordgren, AnnDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden;Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;Clinical Genetics, Karolinska University Hospital, Solna, Sweden (author)
  • Ljungman, GustafDepartment of Women's and Children's Health, Uppsala University, Sweden;Department of Pediatric Oncology, Uppsala University Children's Hospital, 751 35 Uppsala, Sweden (author)
  • Sandgren, JohannaClinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden;Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden (author)
  • Gisselsson, DavidSection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden;Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, BMC C13, SE-221 84, Lund, Sweden (author)
  • Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden;Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, BMC C13, SE-221 84, Lund, SwedenClinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden;Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden (creator_code:org_t)

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  • In:JCO Precision Oncology: American Society of Clinical Oncology:72473-4284

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