Lineage-Independent Tumors in Bilateral Neuroblastoma

被引：22

作者：

Coorens, Tim H. H. ^{[1
]}

Farndon, Sarah J. ^{[2
]}

Mitchell, Thomas J. ^{[1
,2
,3
]}

Jain, Neha ^{[5
,6
]}

Lee, Sangjin ^{[1
]}

Hubank, Michael ^{[7
]}

Sebire, Neil ^{[5
,6
]}

Anderson, John ^{[5
,6
]}

Behjati, Sam ^{[1
,2
,4
]}

机构：

[1] Wellcome Sanger Inst, Wellcome Genome Campus, Hinxton CB10 1SA, England

[2] Univ Cambridge, Cambridge Univ Hosp NHS Fdn Trust, Cambridge, England

[3] Univ Cambridge, Dept Surg, Cambridge, England

[4] Univ Cambridge, Dept Paediat, Cambridge, England

[5] UCL Great Ormond St Inst Child Hlth, London, England

[6] Great Ormond St Hosp Children NHS Fdn Trust, London, England

[7] Royal Marsden NHS Fdn Trust, London, England

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2020年 / 383卷 / 19期

关键词：

LANDSCAPE; CANCER;

D O I：

10.1056/NEJMoa2000962

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.) Bilateral synchronous tumors usually represent metastatic disease. Genomic analysis of tumors and blood from two children with bilateral neuroblastoma showed that each tumor originated from an independent cell lineage.

引用

页码：1860 / 1865

页数：6

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