Lineage-Independent Tumors in Bilateral Neuroblastoma
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Read the article on pubmed.ncbi.nlm.nih.gov ↗Article · Jan 2021 · 1 min read
In brief
In brief
Genetic analysis of bilateral neuroblastoma in two children with germline mutations revealed independent tumor origins arising from early zygotic cell divisions, not metastatic spread. One case showed parallel evolution with distinct SMARCA4 mutations, establishing bilateral neuroblastoma as independent lesions driven by inherited predisposition rather than clonal metastasis.
Written by the GCMD Library team from the article.
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.).
DOI: 10.1056/NEJMoa2000962