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Diagnostic yield an...
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors : a nationwide, prospective Swedish study
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- Tesi, Bianca (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden
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- Robinson, Kristina Lagerstedt (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden
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- 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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- Díaz de Ståhl, Teresita (författare)
- Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden
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- 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
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- Poluha, Anna (författare)
- Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden
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- Hellberg, Maria (författare)
- Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
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- Wessman, Sandra (författare)
- Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden
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- Samuelsson, Sofie (författare)
- Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
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- Frisk, Tony (författare)
- Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
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- Vogt, Hartmut (författare)
- Crown Princess Victoria Children's Hospital, Division of Children's and Women's Health, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden
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- Henning, Karin (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden
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- Sabel, Magnus (författare)
- Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Ek, Torben (författare)
- Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Pal, Niklas (författare)
- Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden
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- Nyman, Per (författare)
- Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden; Centre for Medical Image Science and Visualization (CMIV), Linköping University, Linköping, Sweden
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- Giraud, Geraldine (författare)
- Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden; Pediatric Oncology, Uppsala University Children's Hospital, Uppsala, Sweden; Department of Women's and Children's Health, Uppsala University, Sweden
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- Wille, Joakim (författare)
- Childhood Cancer Center, Skåne University Hospital, Lund, Sweden
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- Pronk, Cornelis Jan (författare)
- Childhood Cancer Center, Skåne University Hospital, Lund, Sweden; Division of Molecular Hematology/Wallenberg Center for Molecular Medicine, Lund University, Sweden
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- Norén-Nyström, Ulrika (författare)
- Umeå universitet,Pediatrik
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- Borssén, Magnus (författare)
- Umeå universitet,Pediatrik
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- Fili, Maria (författare)
- Division of Eye and Vision, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; St. Erik Eye Hospital, Stockholm, Sweden
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- Stålhammar, Gustav (författare)
- Division of Eye and Vision, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; St. Erik Eye Hospital, Stockholm, Sweden
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- Herold, Nikolas (författare)
- Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
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- Tettamanti, Giorgio (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Unit of Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
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- Maya-Gonzalez, Carolina (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
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- Arvidsson, Linda (författare)
- Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
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- Rosén, Anna, 1975- (författare)
- Umeå universitet,Onkologi
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- Ekholm, Katja (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden
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- Kuchinskaya, Ekaterina (författare)
- Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden
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- Hallbeck, Anna-Lotta (författare)
- Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden
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- Nordling, Margareta (författare)
- Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden
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- Palmebäck, Pia (författare)
- Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden
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- Kogner, Per (författare)
- Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
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- Smoler, Gunilla Kanter (författare)
- Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Lähteenmäki, Päivi (författare)
- Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
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- 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
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- Martinsson, Tommy (författare)
- Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
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- Shamik, Alia (författare)
- Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden
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- Mertens, Fredrik (författare)
- Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
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- Rosenquist, Richard (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden
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- Wirta, Valtteri (författare)
- Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden; Science for Life Laboratory, Department of Microbiology, Tumour and Cell Biology, Karolinska Institutet, Stockholm, Sweden; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institutet of Technology, Stockholm, Sweden
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- Tham, Emma (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden
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- Grillner, Pernilla (författare)
- Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
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- Sandgren, Johanna (författare)
- Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden
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- Ljungman, Gustaf (författare)
- Pediatric Oncology, Uppsala University Children's Hospital, Uppsala, Sweden; Department of Women's and Children's Health, Uppsala University, Sweden
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- Gisselsson, David (författare)
- Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
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- Taylan, Fulya (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden
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- Nordgren, Ann (författare)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, 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; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden
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(creator_code:org_t)
- Elsevier, 2024
- 2024
- Engelska.
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Ingår i: The Lancet Regional Health. - : Elsevier. - 2666-7762. ; 39
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- Background: Childhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood cancer development. Yet, due to variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective ChiCaP study that investigated diagnostic yield and clinical impact of integrating germline whole-genome sequencing (gWGS) with tumor sequencing and systematic phenotyping in children with solid tumors.Methods: gWGS was performed in 309 children at diagnosis of CNS (n = 123, 40%) or extracranial (n = 186, 60%) solid tumors and analyzed for disease-causing variants in 189 known cancer predisposing genes. Tumor sequencing data were available for 74% (227/309) of patients. In addition, a standardized clinical assessment for underlying predisposition was performed in 95% (293/309) of patients.Findings: The prevalence of ChiCaP diagnoses was 11% (35/309), of which 69% (24/35) were unknown at inclusion (diagnostic yield 8%, 24/298). A second-hit and/or relevant mutational signature was observed in 19/21 (90%) tumors with informative data. ChiCaP diagnoses were more prevalent among patients with retinoblastomas (50%, 6/12) and high-grade astrocytomas (37%, 6/16), and in those with non-cancer related features (23%, 20/88), and ≥2 positive ChiCaP criteria (28%, 22/79). ChiCaP diagnoses were autosomal dominant in 80% (28/35) of patients, yet confirmed de novo in 64% (18/28). The 35 ChiCaP findings resulted in tailored surveillance (86%, 30/35) and treatment recommendations (31%, 11/35).Interpretation: Overall, our results demonstrate that systematic phenotyping, combined with genomics-based diagnostics of ChiCaP in children with solid tumors is feasible in large-scale clinical practice and critically guides personalized care in a sizable proportion of patients.Funding: The study was supported by the Swedish Childhood Cancer Fund and the Ministry of Health and Social Affairs.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- Childhood cancer predisposition
- Germline variants
- Somatic mutations
- Whole-genome sequencing
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- Av författaren/redakt...
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Tesi, Bianca
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Robinson, Kristi ...
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Abel, Frida
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Díaz de Ståhl, T ...
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Orrsjö, Sara
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Poluha, Anna
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visa fler...
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Hellberg, Maria
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Wessman, Sandra
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Samuelsson, Sofi ...
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Frisk, Tony
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Vogt, Hartmut
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Henning, Karin
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Sabel, Magnus
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Ek, Torben
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Pal, Niklas
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Nyman, Per
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Giraud, Geraldin ...
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Wille, Joakim
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Pronk, Cornelis ...
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Norén-Nyström, U ...
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Borssén, Magnus
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Fili, Maria
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Stålhammar, Gust ...
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Herold, Nikolas
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Tettamanti, Gior ...
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Maya-Gonzalez, C ...
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Arvidsson, Linda
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Rosén, Anna, 197 ...
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Ekholm, Katja
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Kuchinskaya, Eka ...
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Hallbeck, Anna-L ...
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Nordling, Margar ...
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Palmebäck, Pia
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Kogner, Per
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Smoler, Gunilla ...
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Lähteenmäki, Päi ...
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Fransson, Susann ...
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Martinsson, Tomm ...
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Shamik, Alia
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Mertens, Fredrik
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Rosenquist, Rich ...
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Wirta, Valtteri
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Tham, Emma
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Grillner, Pernil ...
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Sandgren, Johann ...
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Ljungman, Gustaf
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Gisselsson, Davi ...
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Taylan, Fulya
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Nordgren, Ann
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- Av lärosätet
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Umeå universitet
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Uppsala universitet