SwePub
Sök i LIBRIS databas

  Utökad sökning

WFRF:(Lagerstedt Kristina)
 

Sökning: WFRF:(Lagerstedt Kristina) > Diagnostic yield an...

  • Tesi, BiancaDepartment 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 (författare)

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

  • Artikel/kapitelEngelska2024

Förlag, utgivningsår, omfång ...

  • Elsevier,2024
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:umu-222981
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-222981URI
  • https://doi.org/10.1016/j.lanepe.2024.100881DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-525280URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • 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 och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Robinson, Kristina LagerstedtDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden (författare)
  • Abel, FridaDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden (författare)
  • Díaz de Ståhl, TeresitaDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Orrsjö, SaraDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden (författare)
  • Poluha, AnnaClinical Genetics, Uppsala University Hospital, Uppsala, Sweden; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden (författare)
  • Hellberg, MariaDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden (författare)
  • Wessman, SandraDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Samuelsson, SofieDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden (författare)
  • Frisk, TonyDepartment 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 (författare)
  • Vogt, HartmutCrown Princess Victoria Children's Hospital, Division of Children's and Women's Health, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden (författare)
  • Henning, KarinDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Sabel, MagnusDepartment of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden (författare)
  • Ek, TorbenDepartment of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden (författare)
  • Pal, NiklasDepartment of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Nyman, PerDepartment of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden; Centre for Medical Image Science and Visualization (CMIV), Linköping University, Linköping, Sweden (författare)
  • Giraud, GeraldineDepartment 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 (författare)
  • Wille, JoakimChildhood Cancer Center, Skåne University Hospital, Lund, Sweden (författare)
  • Pronk, Cornelis JanChildhood Cancer Center, Skåne University Hospital, Lund, Sweden; Division of Molecular Hematology/Wallenberg Center for Molecular Medicine, Lund University, Sweden (författare)
  • Norén-Nyström, UlrikaUmeå universitet,Pediatrik(Swepub:umu)kagr0007 (författare)
  • Borssén, MagnusUmeå universitet,Pediatrik(Swepub:umu)musbon02 (författare)
  • Fili, MariaDivision of Eye and Vision, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; St. Erik Eye Hospital, Stockholm, Sweden (författare)
  • Stålhammar, GustavDivision of Eye and Vision, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; St. Erik Eye Hospital, Stockholm, Sweden (författare)
  • Herold, NikolasDepartment 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 (författare)
  • Tettamanti, GiorgioDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Unit of Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden (författare)
  • Maya-Gonzalez, CarolinaDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden (författare)
  • Arvidsson, LindaDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden (författare)
  • Rosén, Anna,1975-Umeå universitet,Onkologi(Swepub:umu)anaron95 (författare)
  • Ekholm, KatjaDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden (författare)
  • Kuchinskaya, EkaterinaDepartment of Clinical Genetics, Linköping University Hospital, Linköping, Sweden (författare)
  • Hallbeck, Anna-LottaDepartment of Clinical Genetics, Linköping University Hospital, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden (författare)
  • Nordling, MargaretaDepartment of Clinical Genetics, Linköping University Hospital, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden (författare)
  • Palmebäck, PiaDepartment of Clinical Genetics, Linköping University Hospital, Linköping, Sweden (författare)
  • Kogner, PerDepartment 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 (författare)
  • Smoler, Gunilla KanterDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden (författare)
  • Lähteenmäki, PäiviChildhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden (författare)
  • Fransson, SusanneDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden (författare)
  • Martinsson, TommyDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden (författare)
  • Shamik, AliaDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Mertens, FredrikDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden (författare)
  • Rosenquist, RichardDepartment 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 (författare)
  • Wirta, ValtteriGenomic 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 (författare)
  • Tham, EmmaDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden (författare)
  • Grillner, PernillaDepartment 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 (författare)
  • Sandgren, JohannaDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Ljungman, GustafPediatric Oncology, Uppsala University Children's Hospital, Uppsala, Sweden; Department of Women's and Children's Health, Uppsala University, Sweden (författare)
  • Gisselsson, DavidDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden (författare)
  • Taylan, FulyaDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden (författare)
  • Nordgren, AnnDepartment 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 (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, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:The Lancet Regional Health: Elsevier392666-7762

Internetlänk

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy