dc.contributor.author | Coorens, THH | |
dc.contributor.author | Farndon, SJ | |
dc.contributor.author | Mitchell, TJ | |
dc.contributor.author | Jain, N | |
dc.contributor.author | Lee, S | |
dc.contributor.author | Hubank, M | |
dc.contributor.author | Sebire, N | |
dc.contributor.author | Anderson, J | |
dc.contributor.author | Behjati, S | |
dc.date.accessioned | 2021-01-12T10:35:40Z | |
dc.date.issued | 2020-11 | |
dc.identifier.citation | The New England journal of medicine, 2020, 383 (19), pp. 1860 - 1865 | |
dc.identifier.issn | 0028-4793 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/4279 | |
dc.identifier.eissn | 1533-4406 | |
dc.identifier.doi | 10.1056/nejmoa2000962 | |
dc.description.abstract | Childhood tumors that occur synchronously in different anatomical sites usually represent metastatic disease. However, such tumors can be independent neoplasms. We investigated whether cases of bilateral neuroblastoma represented independent tumors in two children with pathogenic germline mutations by genotyping somatic mutations shared between tumors and blood. Our results suggested that in both children, the lineages that had given rise to the tumors had segregated within the first cell divisions of the zygote, without being preceded by a common premalignant clone. In one patient, the tumors had parallel evolution, including distinct second hits in SMARCA4 , a putative predisposition gene for neuroblastoma. These findings portray cases of bilateral neuroblastoma as having independent lesions mediated by a germline predisposition. (Funded by Children with Cancer UK and Wellcome.). | |
dc.format | Print | |
dc.format.extent | 1860 - 1865 | |
dc.language | eng | |
dc.language.iso | eng | |
dc.rights.uri | https://www.rioxx.net/licenses/under-embargo-all-rights-reserved | |
dc.subject | Humans | |
dc.subject | Neuroblastoma | |
dc.subject | Abdominal Neoplasms | |
dc.subject | Adrenal Gland Neoplasms | |
dc.subject | Neoplasms, Multiple Primary | |
dc.subject | Translocation, Genetic | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | DNA Helicases | |
dc.subject | Nuclear Proteins | |
dc.subject | Transcription Factors | |
dc.subject | Sequence Analysis, DNA | |
dc.subject | Germ-Line Mutation | |
dc.subject | Child, Preschool | |
dc.subject | Female | |
dc.subject | Male | |
dc.title | Lineage-Independent Tumors in Bilateral Neuroblastoma. | |
dc.type | Journal Article | |
rioxxterms.versionofrecord | 10.1056/nejmoa2000962 | |
rioxxterms.licenseref.uri | https://www.rioxx.net/licenses/under-embargo-all-rights-reserved | |
rioxxterms.licenseref.startdate | 2020-11 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | The New England journal of medicine | |
pubs.issue | 19 | |
pubs.notes | Not known | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Translational Genomics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Translational Genomics/Translational Genomics (hon.) | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Translational Genomics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Translational Genomics/Translational Genomics (hon.) | |
pubs.publication-status | Published | |
pubs.volume | 383 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Translational Genomics | en_US |
dc.contributor.icrauthor | Hubank, Michael | |