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Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors : a nationwide, prospective Swedish study

Tesi, Bianca (author)
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
Robinson, Kristina Lagerstedt (author)
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden
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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Díaz de Ståhl, Teresita (author)
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden
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
Poluha, Anna (author)
Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden
Hellberg, Maria (author)
Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
Wessman, Sandra (author)
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden
Samuelsson, Sofie (author)
Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
Frisk, Tony (author)
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
Vogt, Hartmut (author)
Crown Princess Victoria Children's Hospital, Division of Children's and Women's Health, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden
Henning, Karin (author)
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden
Sabel, Magnus (author)
Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden
Ek, Torben (author)
Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden
Pal, Niklas (author)
Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden
Nyman, Per (author)
Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden; Centre for Medical Image Science and Visualization (CMIV), Linköping University, Linköping, Sweden
Giraud, Geraldine (author)
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
Wille, Joakim (author)
Childhood Cancer Center, Skåne University Hospital, Lund, Sweden
Pronk, Cornelis Jan (author)
Childhood Cancer Center, Skåne University Hospital, Lund, Sweden; Division of Molecular Hematology/Wallenberg Center for Molecular Medicine, Lund University, Sweden
Norén-Nyström, Ulrika (author)
Umeå universitet,Pediatrik
Borssén, Magnus (author)
Umeå universitet,Pediatrik
Fili, Maria (author)
Division of Eye and Vision, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; St. Erik Eye Hospital, Stockholm, Sweden
Stålhammar, Gustav (author)
Division of Eye and Vision, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; St. Erik Eye Hospital, Stockholm, Sweden
Herold, Nikolas (author)
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
Tettamanti, Giorgio (author)
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Unit of Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
Maya-Gonzalez, Carolina (author)
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Arvidsson, Linda (author)
Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
Rosén, Anna, 1975- (author)
Umeå universitet,Onkologi
Ekholm, Katja (author)
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden
Kuchinskaya, Ekaterina (author)
Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden
Hallbeck, Anna-Lotta (author)
Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden
Nordling, Margareta (author)
Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden
Palmebäck, Pia (author)
Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden
Kogner, Per (author)
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
Smoler, Gunilla Kanter (author)
Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden
Lähteenmäki, Päivi (author)
Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
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
Martinsson, Tommy (author)
Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Shamik, Alia (author)
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden
Mertens, Fredrik (author)
Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
Rosenquist, Richard (author)
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
Wirta, Valtteri (author)
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
Tham, Emma (author)
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden
Grillner, Pernilla (author)
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
Sandgren, Johanna (author)
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden
Ljungman, Gustaf (author)
Pediatric Oncology, Uppsala University Children's Hospital, Uppsala, Sweden; Department of Women's and Children's Health, Uppsala University, Sweden
Gisselsson, David (author)
Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
Taylan, Fulya (author)
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden
Nordgren, Ann (author)
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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Elsevier, 2024
2024
English.
In: The Lancet Regional Health. - : Elsevier. - 2666-7762. ; 39
Related links:
https://urn.kb.se/re...
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https://doi.org/10.1...
https://urn.kb.se/re...
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

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

Keyword

Childhood cancer predisposition
Germline variants
Somatic mutations
Whole-genome sequencing

Publication and Content Type

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