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Diagnostic Yield Fr...
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.
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- Wadensten, Elisabeth (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden
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- Wessman, Sandra (författare)
- Karolinska Institutet,Karolinska Univ Hosp, Clin Pathol & Canc Diagnost, Stockholm, Sweden.;Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.,Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
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- Abel, Frida, 1974 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Sahlgrens Univ Hosp, Dept Clin Genet & Genom, Gothenburg, Sweden.;Univ Gothenburg, Inst Biomed, Sahlgrenska Acad, Dept Lab Med, Gothenburg, Sweden.,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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visa fler...
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- Diaz De Ståhl, Teresita (författare)
- Karolinska Institute,Karolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.,Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
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- Tesi, Bianca (författare)
- Karolinska Institute,Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Clin Genet, Solna, Sweden.;Karolinska Inst, Ctr Hematol & Regenerat Med, Dept Med, Stockholm, Sweden.,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
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- Orsmark Pietras, Christina (författare)
- Lund University,Lunds universitet,Translationella genomiska och funktionella studier av leukemi,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Translational Genomic and Functional Studies of Leukemia,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden
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- Arvidsson, Linda (författare)
- Univ Hosp, Med Serv, Sect Clin Genet Pathol & Mol Diagnost, Reg Skane, SE-22185 Lund, Sweden.;Lund Univ, Dept Lab Med, Div Clin Genet, BMC C13, SE-22184 Lund, Sweden.,Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden
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- Taylan, Fulya (författare)
- Karolinska Institute,Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Clin Genet, Solna, Sweden.,Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics, Karolinska University Hospital, Solna, Sweden
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- Fransson, Susanne, 1975 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Sahlgrens Univ Hosp, Dept Clin Genet & Genom, Gothenburg, Sweden.;Univ Gothenburg, Inst Biomed, Sahlgrenska Acad, Dept Lab Med, Gothenburg, Sweden.,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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- Vogt, Hartmut (författare)
- Linköping University,Crown 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
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- Poluha, Anna (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Uppsala Univ Hosp, Clin Genet, Uppsala, Sweden.,Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden
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- Pradhananga, Sailendra (författare)
- Univ Hosp, Med Serv, Sect Clin Genet Pathol & Mol Diagnost, Reg Skane, SE-22185 Lund, Sweden.,Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, Lund, Sweden
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- Hellberg, Maria (författare)
- Univ Hosp, Med Serv, Sect Clin Genet Pathol & Mol Diagnost, Reg Skane, SE-22185 Lund, Sweden.,Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, Lund, Sweden
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- Lagerstedt-Robinson, Kristina (författare)
- Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Clin Genet, Solna, Sweden.,Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics, Karolinska University Hospital, Solna, Sweden
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- Raj Somarajan, Praveen (författare)
- Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.,Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
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- Samuelsson, Sofie (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,ection of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden
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- Orrsjö, Sara, 1983 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Sahlgrens Univ Hosp, Dept Clin Genet & Genom, Gothenburg, Sweden.;Univ Gothenburg, Inst Biomed, Sahlgrenska Acad, Dept Lab Med, Gothenburg, Sweden.,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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- Maqbool, Khurram (författare)
- Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Clin Genom Stockholm, Solna, Sweden.,Department of Microbiology, Tumor and Cell Biology, Clinical Genomics Stockholm, Science Life Laboratory, Karolinska Institutet, Solna, Sweden
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- Henning, Karin (författare)
- Karolinska Univ Hosp, Sect Pediat Hematol & Oncol, Stockholm, Sweden.;Karolinska Inst, Dept Womens & Childrens Hlth, Childhood Canc Res Unit, Stockholm, Sweden.,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
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- Strid, Tobias (författare)
- Linköping Univ, Dept Clin Pathol, Linköping, Sweden.;Linköping Univ, Dept Biomed & Clin Sci, Linköping, Sweden.,Department of Clinical Pathology and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden
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- Ek, Torben, 1963 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Univ Gothenburg, Dept Pediat, Inst Clin Sci, Sahlgrenska Acad, Gothenburg, Sweden.;Sahlgrens Univ Hosp, Queen Silvia Childrens Hosp, Gothenburg, Sweden.,Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg and Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Fagman, Henrik, 1975 (författare)
- Sahlgrens Univ Hosp, Dept Clin Pathol, Gothenburg, Sweden.,Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Bontell, Thomas Olsson (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för fysiologi,Institute of Neuroscience and Physiology, Department of Physiology,Univ Gothenburg, Dept Pediat, Inst Clin Sci, Sahlgrenska Acad, Gothenburg, Sweden.;Sahlgrens Univ Hosp, Queen Silvia Childrens Hosp, Gothenburg, Sweden.;Sahlgrens Univ Hosp, Dept Clin Pathol, Gothenburg, Sweden.;Univ Gothenburg, Inst Neurosci & Physiol, Dept Physiol, Sahlgrenska Acad, Gothenburg, Sweden.,Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Physiology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
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- Martinsson, Tommy, 1956 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Sahlgrens Univ Hosp, Dept Clin Genet & Genom, Gothenburg, Sweden.;Univ Gothenburg, Inst Biomed, Sahlgrenska Acad, Dept Lab Med, Gothenburg, Sweden.,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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- Puls, Florian (författare)
- Sahlgrens Univ Hosp, Dept Clin Pathol, Gothenburg, Sweden.,Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Kogner, Per (författare)
- Karolinska Institutet,Karolinska Univ Hosp, Sect Pediat Hematol & Oncol, Stockholm, Sweden.;Karolinska Inst, Dept Womens & Childrens Hlth, Childhood Canc Res Unit, Stockholm, Sweden.,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
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- Wirta, Valtteri (författare)
- KTH,Karolinska Institutet,Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Clin Genom Stockholm, Solna, Sweden.;Karolinska Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden.;KTH Royal Inst Technol, Sch Engn Sci Chem Biotechnol & Hlth, Sci Life Lab, Clin Genom Stockholm, Stockholm, Sweden.,Genteknologi,Science for Life Laboratory, SciLifeLab,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
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- Pronk, Cornelis Jan (författare)
- Skane Univ Hosp, Childhood Canc Ctr, Lund, Sweden.,Childhood Cancer Centre, Skåne University Hospital, Lund, Sweden
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- Wille, Joakim (författare)
- Skane Univ Hosp, Childhood Canc Ctr, Lund, Sweden.,Childhood Cancer Centre, Skåne University Hospital, Lund, Sweden
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- Rosenquist, Richard (författare)
- Karolinska Institutet,Karolinska Univ Hosp, Clin Genet, Solna, Sweden.,Clinical Genetics, Karolinska University Hospital, Solna, Sweden; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden
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- Nistér, Monica (författare)
- Karolinska Institutet,Karolinska Univ Hosp, Clin Pathol & Canc Diagnost, Stockholm, Sweden.;Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.,Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
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- Mertens, Fredrik (författare)
- Lund University,Lunds universitet,Genetiska avvikelser i mjukdelstumörer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,The genetics of soft tissue tumors,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden
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- Sabel, Magnus, 1966 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Univ Gothenburg, Dept Pediat, Inst Clin Sci, Sahlgrenska Acad, Gothenburg, Sweden.;Sahlgrens Univ Hosp, Queen Silvia Childrens Hosp, Gothenburg, Sweden.,Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg and Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Norén-Nyström, Ulrika (författare)
- Umeå universitet,Pediatrik
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- Grillner, Pernilla (författare)
- Karolinska Univ Hosp, Sect Pediat Hematol & Oncol, Stockholm, Sweden.,Section for Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden
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- Nordgren, Ann, 1964 (författare)
- Karolinska Institutet,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Sahlgrens Univ Hosp, Dept Clin Genet & Genom, Gothenburg, Sweden.;Univ Gothenburg, Inst Biomed, Sahlgrenska Acad, Dept Lab Med, Gothenburg, Sweden.;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Clin Genet, Solna, Sweden.,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
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- Ljungman, Gustaf, 1958- (författare)
- Uppsala universitet,Barnonkologisk forskning - särskilt fokus på komplikationer,Uppsala Univ Childrens Hosp, Dept Pediat Oncol, S-75135 Uppsala, Sweden.,Department of Women's and Children's Health, Uppsala University, Sweden; Department of Pediatric Oncology, Uppsala University Children's Hospital, Uppsala, Sweden
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- Sandgren, Johanna (författare)
- Karolinska Institutet,Karolinska Univ Hosp, Clin Pathol & Canc Diagnost, Stockholm, Sweden.;Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.,Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
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- Gisselsson, David (författare)
- Lund University,Lunds universitet,Cancercellers evolution,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,LU profilområde: Mänskliga rättigheter,Lunds universitets profilområden,Pathways of cancer cell evolution,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,LU Profile Area: Human rights,Lund University Profile areas,Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden
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(creator_code:org_t)
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- American Society of Clinical Oncology, 2023
- 2023
- Engelska.
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Ingår i: JCO Precision Oncology (JCO PO). - : American Society of Clinical Oncology. - 2473-4284. ; 7
- Relaterad länk:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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http://dx.doi.org/10... (free)
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https://umu.diva-por... (primary) (Raw object)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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http://kipublication...
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http://kipublication...
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https://urn.kb.se/re...
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https://urn.kb.se/re...
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https://lup.lub.lu.s...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- 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.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.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%).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 -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- Humans
- Child
- Precision Medicine
- Neoplasm Recurrence
- Local
- Carcinoma
- Gene Fusion
- Genomics
- Neoplasm Recurrence, Local
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Wadensten, Elisa ...
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Wessman, Sandra
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Abel, Frida, 197 ...
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Diaz De Ståhl, T ...
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Tesi, Bianca
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Orsmark Pietras, ...
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visa fler...
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Arvidsson, Linda
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Taylan, Fulya
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Fransson, Susann ...
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Vogt, Hartmut
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Poluha, Anna
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Pradhananga, Sai ...
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Hellberg, Maria
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Lagerstedt-Robin ...
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Raj Somarajan, P ...
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Samuelsson, Sofi ...
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Orrsjö, Sara, 19 ...
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Maqbool, Khurram
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Henning, Karin
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Strid, Tobias
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Ek, Torben, 1963
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Fagman, Henrik, ...
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Bontell, Thomas ...
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Martinsson, Tomm ...
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Puls, Florian
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Kogner, Per
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Wirta, Valtteri
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Pronk, Cornelis ...
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Wille, Joakim
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Rosenquist, Rich ...
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Nistér, Monica
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Mertens, Fredrik
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Sabel, Magnus, 1 ...
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Norén-Nyström, U ...
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Grillner, Pernil ...
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Nordgren, Ann, 1 ...
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Ljungman, Gustaf ...
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Sandgren, Johann ...
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Gisselsson, Davi ...
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Cancer och onkol ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Pediatrik
- Artiklar i publikationen
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JCO Precision On ...
- Av lärosätet
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Göteborgs universitet
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Karolinska Institutet
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Uppsala universitet
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Kungliga Tekniska Högskolan
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Lunds universitet
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Umeå universitet
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