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Sökning: onr:"swepub:oai:DiVA.org:liu-200793" > Diagnostic Yield Fr...

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

Wadensten, Elisabeth (författare)
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, Sweden
Wessman, Sandra (författare)
Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden;Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Abel, Frida (författare)
Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
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Diaz De Ståhl, Teresita (författare)
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Tesi, Bianca (författare)
Department 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
Orsmark Pietras, Christina (författare)
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, Sweden
Arvidsson, Linda (författare)
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, Sweden
Taylan, Fulya (författare)
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;Clinical Genetics, Karolinska University Hospital, Solna, Sweden
Fransson, Susanne (författare)
Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Vogt, Hartmut, MP, PhD, 1970- (författare)
Linköpings universitet,Medicinska fakulteten,Institutionen för biomedicinska och kliniska vetenskaper,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus
Poluha, Anna (författare)
Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden;Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden
Pradhananga, Sailendra (författare)
Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden
Hellberg, Maria (författare)
Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden
Lagerstedt-Robinson, Kristina (författare)
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;Clinical Genetics, Karolinska University Hospital, Solna, Sweden
Raj Somarajan, Praveen (författare)
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Samuelsson, Sofie (författare)
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, Sweden
Orrsjö, Sara (författare)
Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Maqbool, Khurram (författare)
Department of Microbiology, Tumor and Cell Biology, Clinical Genomics Stockholm, Science Life Laboratory, Karolinska Institutet, Solna, Sweden
Henning, Karin (författare)
Section 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
Strid, Tobias, 1982- (författare)
Linköpings universitet,Medicinska fakulteten,Avdelningen för cellbiologi,Region Östergötland, Klinisk patologi
Ek, Torben (författare)
Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg;Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden
Fagman, Henrik (författare)
Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden
Olsson Bontell, Thomas (författare)
Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Physiology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Martinsson, Tommy (författare)
Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Puls, Florian (författare)
Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden
Kogner, Per (författare)
Section 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
Wirta, Valtteri (författare)
Department 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
Pronk, Cornelis Jan (författare)
Childhood Cancer Centre, Skåne University Hospital, Lund, Sweden
Wille, Joakim (författare)
Childhood Cancer Centre, Skåne University Hospital, Lund, Sweden
Rosenquist, Richard (författare)
Clinical Genetics, Karolinska University Hospital, Solna, Sweden;Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden
Nistér, Monica (författare)
Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden;Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Mertens, Fredrik (författare)
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, Sweden
Sabel, Magnus (författare)
Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg;Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden
Norén-Nyström, Ulrika (författare)
Department of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden
Grillner, Pernilla (författare)
Section for Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden
Nordgren, Ann (författare)
Department 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
Ljungman, Gustaf (författare)
Department of Women's and Children's Health, Uppsala University, Sweden;Department of Pediatric Oncology, Uppsala University Children's Hospital, 751 35 Uppsala, Sweden
Sandgren, Johanna (författare)
Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden;Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
Gisselsson, David (författare)
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, Sweden
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 (creator_code:org_t)
American Society of Clinical Oncology, 2023
2023
Engelska.
Ingår i: JCO Precision Oncology. - : American Society of Clinical Oncology. - 2473-4284. ; :7
Relaterad länk:
https://urn.kb.se/re...
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https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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