Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma

被引：674

作者：

De Mattos-Arruda, Leticia ^{[1
,2
,3
]}

Mayor, Regina ^{[1
]}

Ng, Charlotte K. Y. ^{[2
]}

Weigelt, Britta ^{[2
]}

Martinez-Ricarte, Francisco ^{[3
,4
]}

Torrejon, Davis ^{[1
]}

Oliveira, Mafalda ^{[1
]}

Arias, Alexandra ^{[1
]}

Raventos, Carolina ^{[1
]}

Tang, Jiabin ^{[5
]}

Guerini-Rocco, Elena ^{[2
]}

Martinez-Saez, Elena ^{[4
]}

Lois, Sergio ^{[4
]}

Marin, Oscar ^{[4
]}

de la Cruz, Xavier ^{[4
,6
]}

Piscuoglio, Salvatore ^{[2
]}

Towers, Russel ^{[7
]}

Vivancos, Ana ^{[1
]}

Peg, Vicente ^{[4
]}

Ramon y Cajal, Santiago ^{[3
,4
]}

Carles, Joan ^{[1
]}

Rodon, Jordi ^{[1
]}

Gonzalez-Cao, Maria ^{[8
]}

Tabernero, Josep ^{[1
,3
]}

Felip, Enriqueta ^{[1
,3
]}

Sahuquillo, Joan ^{[3
,4
]}

Berger, Michael F. ^{[5
,9
]}

Cortes, Javier ^{[1
,3
]}

Reis-Filho, Jorge S. ^{[2
]}

Seoane, Joan ^{[1
,3
,6
]}

机构：

[1] Vall dHebron Univ Hosp, Vall dHebron Inst Oncol, Barcelona 08035, Spain

[2] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10065 USA

[3] Univ Autonoma Barcelona, E-08193 Barcelona, Spain

[4] Vall dHebron Univ Hosp, Vall dHebron Inst Res, Barcelona 08035, Spain

[5] Mem Sloan Kettering Canc Ctr, Ctr Mol Oncol, New York, NY 10065 USA

[6] ICREA, Barcelona, Spain

[7] Mem Sloan Kettering Canc Ctr, Dept Surg, New York, NY 10065 USA

[8] Quiron Dexeus Univ Hosp, Barcelona 08028, Spain

[9] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, New York, NY 10065 USA

来源：

NATURE COMMUNICATIONS | 2015年 / 6卷

关键词：

INTRATUMOR HETEROGENEITY; GENETIC-HETEROGENEITY; CANCERS REVEALS; MUTATION; GLIOBLASTOMA; CARCINOMAS; EVOLUTION; DISCOVERY; THERAPY;

D O I：

10.1038/ncomms9839

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

070301 [无机化学]; 070403 [天体物理学]; 070507 [自然资源与国土空间规划学]; 090105 [作物生产系统与生态工程];

摘要：

Cell-free circulating tumour DNA (ctDNA) in plasma has been shown to be informative of the genomic alterations present in tumours and has been used to monitor tumour progression and response to treatments. However, patients with brain tumours do not present with or present with low amounts of ctDNA in plasma precluding the genomic characterization of brain cancer through plasma ctDNA. Here we show that ctDNA derived from central nervous system tumours is more abundantly present in the cerebrospinal fluid (CSF) than in plasma. Massively parallel sequencing of CSF ctDNA more comprehensively characterizes the genomic alterations of brain tumours than plasma, allowing the identification of actionable brain tumour somatic mutations. We show that CSF ctDNA levels longitudinally fluctuate in time and follow the changes in brain tumour burden providing biomarkers to monitor brain malignancies. Moreover, CSF ctDNA is shown to facilitate and complement the diagnosis of leptomeningeal carcinomatosis.

引用

页数：6

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