Publications Repository

Publications Repository

View item 
  •   Home
  • ICR Divisions
  • Molecular Pathology
  • View item
  • Home
  • ICR Divisions
  • Molecular Pathology
  • View item
JavaScript is disabled for your browser. Some features of this site may not work without it.

Lineage-Independent Tumors in Bilateral Neuroblastoma.

Thumbnail
View/Open
Published version (723.0Kb)
Date
2020-11
ICR Author
Hubank, Michael
Author
Coorens, THH
Farndon, SJ
Mitchell, TJ
Jain, N
Lee, S
Hubank, M
Sebire, N
Anderson, J
Behjati, S
Show allShow less
Type
Journal Article
Metadata
Show full item record
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.).
URI
https://repository.icr.ac.uk/handle/internal/4279
DOI
https://doi.org/10.1056/nejmoa2000962
Collections
  • Molecular Pathology
Subject
Humans
Neuroblastoma
Abdominal Neoplasms
Adrenal Gland Neoplasms
Neoplasms, Multiple Primary
Translocation, Genetic
Genetic Predisposition to Disease
DNA Helicases
Nuclear Proteins
Transcription Factors
Sequence Analysis, DNA
Germ-Line Mutation
Child, Preschool
Female
Male
Research team
Translational Genomics
Language
eng
License start date
2020-11
Citation
The New England journal of medicine, 2020, 383 (19), pp. 1860 - 1865

Browse

All of ICR repositoryICR DivisionsBy issue dateAuthorsTitlesPublication TypesThis collectionBy issue dateAuthorsTitlesPublication Types
  • Login
  • Registered office: The Institute of Cancer Research, 123 Old Brompton Road, London, SW7 3RP
    A Charity, Not for Profit. Company Limited by Guarantee.
    Registered in England No. 534147. VAT Registration No. GB 849 0581 02.