Lineage-Independent Tumors in Bilateral Neuroblastoma.

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Date
2020-11ICR Author
Author
Coorens, THH
Farndon, SJ
Mitchell, TJ
Jain, N
Lee, S
Hubank, M
Sebire, N
Anderson, J
Behjati, S
Type
Journal Article
Metadata
Show full item recordAbstract
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.).
Collections
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