Seq-ing the SINEs of central nervous system tumors in cerebrospinal fluid.
Seq-ing the SINEs of central nervous system tumors in cerebrospinal fluid.
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DOI：
10.1016/j.xcrm.2023.101148
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发表时间：
2023-08-15
影响因子：
14.3
通讯作者：
Bettegowda, Chetan
中科院分区：
文献类型：
--
作者：
Douville, Christopher;Curtis, Samuel;Summers, Mahmoud;Azad, Tej D.;Rincon-Torroella, Jordina;Wang, Yuxuan;Mattox, Austin;Avigdor, Bracha;Dudley, Jonathan;Materi, Joshua;Raj, Divyaansh;Nair, Sumil;Bhanja, Debarati;Tuohy, Kyle;Dobbyn, Lisa;Popoli, Maria;Ptak, Janine;Nehme, Nadine;Silliman, Natalie;Blair, Cherie;Judge, Kathy;Gallia, Gary L.;Groves, Mari;Jackson, Christopher M.;Jackson, Eric M.;Laterra, John;Lim, Michael;Mukherjee, Debraj;Weingart, Jon;Naidoo, Jarushka;Koschmann, Carl;Smith, Natalya;Schreck, Karisa C.;Pardo, Carlos A.;Glantz, Michael;Holdhoff, Matthias;Kinzler, Kenneth W.;Papadopoulos, Nickolas;Vogelstein, Bert;Bettegowda, Chetan
使用传统的诊断方法来区分大脑中的癌变和非癌变病变通常是具有挑战性的。我们介绍了一种称为Real-CSF（脑脊液中重复元件非整倍体测序）的分析技术，通过评估脑脊液（CSF）中的DNA来检测中枢神经系统的癌症。用单引物对扩增短穿插核元件（Short interspersed nuclear elements，简称SINEs），并对PCR产物进行新一代测序。Real-CSF评估全基因组拷贝数改变以及选定癌基因的局灶扩增。Real-CSF应用于280个脑脊液样本，正确识别了184个癌性脑病变中的67%和96个非癌性脑病变中的96%。在同一患者中，脑脊液分析明显比标准护理细胞学和无浆细胞DNA分析更敏感。因此，Real-CSF有能力与其他临床、放射学和基于实验室的数据结合使用，为疑似脑癌患者的诊断和管理提供信息。脑脊液（CSF）中有限的DNA给遗传技术带来了挑战拷贝数改变是几乎所有中枢神经系统癌症的一个特征——Real-CSF在有限的起始物质中起作用，并识别拷贝数改变——Real-CSF可以在异质中枢神经系统癌症中检测脑脊液中的瘤变。Douville等人介绍了Real-CSF -一种分子技术，旨在识别从脑脊液中有限的起始物质中传播到整个基因组中的拷贝数改变。尽管中枢神经系统癌症由一组异质性肿瘤组成，但几乎所有肿瘤都包含拷贝数改变，这使其成为一种假定的多癌症生物标志物。
It is often challenging to distinguish cancerous from non-cancerous lesions in the brain using conventional diagnostic approaches. We introduce an analytic technique called Real-CSF (repetitive element aneuploidy sequencing in CSF) to detect cancers of the central nervous system from evaluation of DNA in the cerebrospinal fluid (CSF). Short interspersed nuclear elements (SINEs) are PCR amplified with a single primer pair, and the PCR products are evaluated by next-generation sequencing. Real-CSF assesses genome-wide copy-number alterations as well as focal amplifications of selected oncogenes. Real-CSF was applied to 280 CSF samples and correctly identified 67% of 184 cancerous and 96% of 96 non-cancerous brain lesions. CSF analysis was considerably more sensitive than standard-of-care cytology and plasma cell-free DNA analysis in the same patients. Real-CSF therefore has the capacity to be used in combination with other clinical, radiologic, and laboratory-based data to inform the diagnosis and management of patients with suspected cancers of the brain. Limited DNA in the cerebrospinal fluid (CSF) poses challenges for genetic techniques Copy-number alterations are a feature of nearly all CNS cancers Real-CSF works in limited starting material and identifies copy-number alterations Real-CSF can detect neoplasia in CSF across a heterogeneous set of CNS cancers Douville et al. introduce Real-CSF—a molecular technique designed to identify copy-number alterations spread throughout the genome from limited starting material in cerebrospinal fluid. Even though central nervous system cancers comprise a heterogeneous set of tumors, nearly all will contain copy-number alterations, making this a putative multi-cancer biomarker.
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DOI：
10.1016/j.annonc.2020.02.011
发表时间：
2020-06
期刊：
Annals of oncology : official journal of the European Society for Medical Oncology
影响因子：
--
作者：
Liu MC;Oxnard GR;Klein EA;Swanton C;Seiden MV;CCGA Consortium
通讯作者：
CCGA Consortium
影响因子：
16.6
作者：
De Mattos-Arruda L;Mayor R;Ng CKY;Weigelt B;Martínez-Ricarte F;Torrejon D;Oliveira M;Arias A;Raventos C;Tang J;Guerini-Rocco E;Martínez-Sáez E;Lois S;Marín O;de la Cruz X;Piscuoglio S;Towers R;Vivancos A;Peg V;Ramon y Cajal S;Carles J;Rodon J;González-Cao M;Tabernero J;Felip E;Sahuquillo J;Berger MF;Cortes J;Reis-Filho JS;Seoane J
通讯作者：
Seoane J
影响因子：
2.8
作者：
Abbasi AW;Westerlaan HE;Holtman GA;Aden KM;van Laar PJ;van der Hoorn A
通讯作者：
van der Hoorn A
影响因子：
2.8
作者：
Pasternak KA;Schwake M;Warneke N;Masthoff M;Zawy Alsofy S;Suero Molina E;Stummer W;Schipmann S
通讯作者：
Schipmann S
影响因子：
5.6
作者：
Bockaj, Irena;Martini, Tosca E., I;Smit, Marlinde J.;Armandari, Inna;Bakker, Bjorn;Wardenaar, Rene;Meeuwsen-de Boer, Tiny G. J.;Bakker, Petra L.;Spierings, Diana C. J.;Hoving, Eelco W.;Guryev, Victor;Foijer, Floris;Bruggeman, Sophia W. M.
通讯作者：
Bruggeman, Sophia W. M.