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Lineage-Independent Tumors in Bilateral Neuroblastoma

Coorens, THH; Farndon, SJ; Mitchell, TJ; Jain, N; Lee, S; Hubank, M; Sebire, N; ... Behjati, S; + view all (2020) Lineage-Independent Tumors in Bilateral Neuroblastoma. The New England Journal of Medicine , 383 (19) pp. 1860-1865. 10.1056/NEJMoa2000962. Green open access

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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

Type: Article
Title: Lineage-Independent Tumors in Bilateral Neuroblastoma
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1056/NEJMoa2000962
Publisher version: https://doi.org/10.1056/NEJMoa2000962
Language: English
Additional information: This version is the version of record. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10115912
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