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FältnamnIndikatorerMetadata
00013056naa a2201141 4500
001oai:DiVA.org:uu-525280
003SwePub
008240320s2024 | |||||||||||000 ||eng|
009oai:DiVA.org:liu-204370
009oai:DiVA.org:umu-222981
009oai:lup.lub.lu.se:0863266c-a3e8-44ca-90ef-54ab307dbf6a
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5252802 URI
0247 a https://doi.org/10.1016/j.lanepe.2024.1008812 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-2043702 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-2229812 URI
0247 a https://lup.lub.lu.se/record/0863266c-a3e8-44ca-90ef-54ab307dbf6a2 URI
040 a (SwePub)uud (SwePub)liud (SwePub)umud (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Tesi, Biancau Karolinska Institute,Karolinska University Hospital4 aut
2451 0a Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors :b a nationwide, prospective Swedish study
264 1b Elsevier,c 2024
338 a electronic2 rdacarrier
500 a De fyra sista författarna delar sistaförfattarskapet
500 a Funding Agencies|Swedish Childhood Cancer Fund; Ministry of Health and Social Affairs
520 a BackgroundChildhood 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.MethodsgWGS 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.FindingsThe 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).InterpretationOverall, 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng
653 a Childhood cancer predisposition
653 a Whole-genome sequencing
653 a Germline variants
653 a Somatic mutations
653 a Childhood cancer predisposition
653 a Germline variants
653 a Somatic mutations
653 a Whole-genome sequencing
7001 a Lagerstedt Robinson, Kristinau Karolinska Institute,Karolinska University Hospital4 aut
7001 a Abel, Fridau University of Gothenburg,Sahlgrenska Academy,Sahlgrenska University Hospital4 aut
7001 a Díaz de Ståhl, Teresitau Karolinska Institute,Karolinska University Hospital4 aut
7001 a Orrsjö, Sarau University of Gothenburg,Sahlgrenska Academy,Sahlgrenska University Hospital4 aut
7001 a Poluha, Annau Uppsala University,Uppsala universitet,Institutionen för immunologi, genetik och patologi,Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden,Uppsala Univ Hosp, Sweden; Uppsala Univ, Sweden4 aut0 (Swepub:uu)annpo486
7001 a Hellberg, Mariau Off Med Serv, Sweden,Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden4 aut
7001 a Wessman, Sandrau Karolinska Institute,Karolinska University Hospital4 aut
7001 a Samuelsson, Sofieu Off Med Serv, Sweden,Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden4 aut
7001 a Frisk, Tonyu Karolinska Institute,Karolinska University Hospital4 aut
7001 a Vogt, Hartmutu Linköping University,Linköpings universitet,Institutionen för biomedicinska och kliniska vetenskaper,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus,Crown Princess Victoria Children's Hospital, Division of Children's and Women's Health, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden4 aut0 (Swepub:liu)harki85
7001 a Henning, Karinu Karolinska Institute,Karolinska University Hospital4 aut
7001 a Sabel, Magnusu University of Gothenburg,Sahlgrenska University Hospital,Queen Silvia Children’s Hospital,Sahlgrenska Academy4 aut
7001 a Ek, Torbenu University of Gothenburg,Sahlgrenska Academy,Queen Silvia Children’s Hospital,Sahlgrenska University Hospital4 aut
7001 a Pal, Niklasu Karolinska Inst, Sweden,Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden4 aut
7001 a Nyman, Peru Linköping University,Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus,Karolinska Univ Hosp, Sweden,Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden; Centre for Medical Image Science and Visualization (CMIV), Linköping University, Linköping, Sweden4 aut0 (Swepub:liu)perny73
7001 a Giraud, Géraldineu Uppsala University,Uppsala universitet,Science for Life Laboratory, SciLifeLab,Neuroonkologi och neurodegeneration,Barnonkologisk forskning - särskilt fokus på komplikationer,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,Uppsala Univ, Sweden4 aut0 (Swepub:uu)gergi266
7001 a Wille, Joakimu Skane Univ Hosp, Sweden,Childhood Cancer Center, Skåne University Hospital, Lund, Sweden4 aut
7001 a Pronk, Cornelis Janu Lund University,Lunds universitet,Avdelningen för molekylär hematologi,Institutionen för laboratoriemedicin,Medicinska fakulteten,WCMM- Wallenberg center för molekylär medicinsk forskning,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Molecular Hematology (DMH),Department of Laboratory Medicine,Faculty of Medicine,WCMM-Wallenberg Centre for Molecular Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Skåne University Hospital4 aut0 (Swepub:lu)stem-kpr
7001 a Norén-Nyström, Ulrikau Umeå University,Umeå universitet,Pediatrik4 aut0 (Swepub:umu)kagr0007
7001 a Borssén, Magnusu Umeå University,Umeå universitet,Pediatrik4 aut0 (Swepub:umu)musbon02
7001 a Fili, Mariau Karolinska Institute,St Erik Eye Hospital4 aut
7001 a Stålhammar, Gustavu Karolinska Institute,St Erik Eye Hospital4 aut
7001 a Herold, Nikolasu Karolinska Institute,Karolinska University Hospital4 aut
7001 a Tettamanti, Giorgiou Karolinska Institute4 aut
7001 a Maya-Gonzalez, Carolinau Karolinska Institute4 aut
7001 a Arvidsson, Lindau Off Med Serv, Sweden,Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden4 aut
7001 a Rosén, Anna,d 1975-u Umeå University,Umeå universitet,Onkologi4 aut0 (Swepub:umu)anaron95
7001 a Ekholm, Katjau Karolinska Institute,Karolinska University Hospital4 aut
7001 a Kuchinskaya, Ekaterinau Region Östergötland, Klinisk genetik,Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden4 aut0 (Swepub:liu)ekaku57
7001 a Hallbeck, Anna-Lottau Linköping University,Linköpings universitet,Avdelningen för kirurgi, ortopedi och onkologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden4 aut0 (Swepub:liu)annha32
7001 a Nordling, Margaretau Linköping University,Linköpings universitet,Avdelningen för cell- och neurobiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden4 aut0 (Swepub:liu)marno69
7001 a Palmebäck, Piau Region Östergötland, Klinisk genetik,Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden4 aut0 (Swepub:liu)piapa49
7001 a Kogner, Peru Karolinska Institute,Karolinska University Hospital4 aut
7001 a Kanter Smoler, Gunillau Sahlgrens Univ Hosp, Sweden,Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden4 aut
7001 a Lähteenmäki, Päiviu Karolinska Institute4 aut
7001 a Fransson, Susanneu University of Gothenburg,Sahlgrenska University Hospital,Sahlgrenska Academy4 aut
7001 a Martinsson, Tommyu Univ Gothenburg, Sweden,Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden4 aut
7001 a Shamik, Aliau Karolinska Institute,Karolinska University Hospital4 aut
7001 a Mertens, Fredriku Off Med Serv, Sweden,Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden4 aut
7001 a Rosenquist, Richardu Karolinska Institute,Karolinska University Hospital4 aut
7001 a Wirta, Valtteriu KTH Royal Institute of Technology,Karolinska Institute,Karolinska University Hospital4 aut
7001 a Tham, Emmau Karolinska Institute,Karolinska University Hospital4 aut
7001 a Grillner, Pernillau Karolinska Institute,Karolinska University Hospital4 aut
7001 a Sandgren, Johannau Karolinska Institute,Karolinska University Hospital4 aut
7001 a Ljungman, Gustaf,d 1958-u Uppsala University,Uppsala universitet,Barnonkologisk forskning - särskilt fokus på komplikationer,Pediatric Oncology, Uppsala University Children's Hospital, Uppsala, Sweden; Department of Women's and Children's Health, Uppsala University, Sweden,Uppsala Univ, Sweden4 aut0 (Swepub:uu)gustaflm
7001 a Gisselsson, Davidu Off Med Serv, Sweden,Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden4 aut
7001 a Taylan, Fulyau Karolinska Institute,Karolinska University Hospital4 aut
7001 a Nordgren, Annu Karolinska Institute,Karolinska University Hospital,Sahlgrenska University Hospital,Sahlgrenska Academy4 aut
7102 a Karolinska Instituteb Karolinska University Hospital4 org
7730 t The Lancet Regional Healthd : Elsevierg 39q 39x 2666-7762
8564 u https://doi.org/10.1016/j.lanepe.2024.100881y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1846011/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u http://dx.doi.org/10.1016/j.lanepe.2024.100881x freey FULLTEXT
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-525280
8564 8u https://doi.org/10.1016/j.lanepe.2024.100881
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-204370
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-222981
8564 8u https://lup.lub.lu.se/record/0863266c-a3e8-44ca-90ef-54ab307dbf6a

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