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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 (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, Sweden
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- Wessman, Sandra (author)
- Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden;Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
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- Abel, Frida (author)
- 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 (author)
- Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
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- Tesi, Bianca (author)
- 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 (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, Sweden
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- Arvidsson, Linda (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, Sweden
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- Taylan, Fulya (author)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;Clinical Genetics, Karolinska University Hospital, Solna, Sweden
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- Fransson, Susanne (author)
- 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, MP, PhD, 1970- (author)
- Linköpings universitet,Medicinska fakulteten,Institutionen för biomedicinska och kliniska vetenskaper,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus
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- Poluha, Anna (author)
- Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden;Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden
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- Pradhananga, Sailendra (author)
- Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden
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- Hellberg, Maria (author)
- Section of Clinical Genetics, Pathology and Molecular Diagnostics, Medical Services, Region Skåne, University Hospital, SE-22185, Lund, Sweden
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- Lagerstedt-Robinson, Kristina (author)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;Clinical Genetics, Karolinska University Hospital, Solna, Sweden
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- Raj Somarajan, Praveen (author)
- Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
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- Samuelsson, Sofie (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, Sweden
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- Orrsjö, Sara (author)
- 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 (author)
- Department of Microbiology, Tumor and Cell Biology, Clinical Genomics Stockholm, Science Life Laboratory, Karolinska Institutet, Solna, Sweden
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- Henning, Karin (author)
- 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, 1982- (author)
- Linköpings universitet,Medicinska fakulteten,Avdelningen för cellbiologi,Region Östergötland, Klinisk patologi
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- Ek, Torben (author)
- Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg;Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Fagman, Henrik (author)
- Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Olsson Bontell, Thomas (author)
- 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 (author)
- 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 (author)
- Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Kogner, Per (author)
- 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 (author)
- 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 (author)
- Childhood Cancer Centre, Skåne University Hospital, Lund, Sweden
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- Wille, Joakim (author)
- Childhood Cancer Centre, Skåne University Hospital, Lund, Sweden
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- Rosenquist, Richard (author)
- Clinical Genetics, Karolinska University Hospital, Solna, Sweden;Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden
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- Nistér, Monica (author)
- Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden;Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
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- Mertens, Fredrik (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, Sweden
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- Sabel, Magnus (author)
- Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg;Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Norén-Nyström, Ulrika (author)
- Department of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden
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- Grillner, Pernilla (author)
- Section for Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden
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- Nordgren, Ann (author)
- 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 (author)
- Department of Women's and Children's Health, Uppsala University, Sweden;Department of Pediatric Oncology, Uppsala University Children's Hospital, 751 35 Uppsala, Sweden
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- Sandgren, Johanna (author)
- Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden;Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden
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- Gisselsson, David (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, Sweden
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(creator_code:org_t)
- American Society of Clinical Oncology, 2023
- 2023
- English.
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In: JCO Precision Oncology. - : American Society of Clinical Oncology. - 2473-4284. ; :7
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Wadensten, Elisa ...
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Wessman, Sandra
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Abel, Frida
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Diaz De Ståhl, T ...
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Tesi, Bianca
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Orsmark Pietras, ...
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show more...
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Arvidsson, Linda
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Taylan, Fulya
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Fransson, Susann ...
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Vogt, Hartmut, M ...
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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
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Maqbool, Khurram
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Henning, Karin
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Strid, Tobias, 1 ...
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Ek, Torben
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Fagman, Henrik
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Olsson Bontell, ...
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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
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Norén-Nyström, U ...
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Grillner, Pernil ...
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Nordgren, Ann
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Ljungman, Gustaf
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Sandgren, Johann ...
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Gisselsson, Davi ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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JCO Precision On ...
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Linköping University