Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma.
Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma.
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在原发性中枢神经系统淋巴瘤中使用下一代测序对体细胞突变的非侵入性检测。
DOI：
10.18632/oncotarget.18325
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发表时间：
2017-07-18
期刊：
影响因子：
--
通讯作者：
Jardin F
中科院分区：
文献类型：
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作者：
Fontanilles M;Marguet F;Bohers É;Viailly PJ;Dubois S;Bertrand P;Camus V;Mareschal S;Ruminy P;Maingonnat C;Lepretre S;Veresezan EL;Derrey S;Tilly H;Picquenot JM;Laquerrière A;Jardin F
原发性中枢神经系统淋巴瘤（PCNSL）具有复发性基因组改变。我们研究的主要目的是证明在诊断时由PCNSL释放的循环无细胞DNA（cfDNA）的靶向测序可以通过下一代测序（NGS）识别体细胞突变。使用Ion Torrent Personal Genome Machine（Life Technologies®）对来自25名PCNSL患者的PlasmacfDNA和匹配的肿瘤DNA（tDNA）进行测序。首先，对tDNA中鉴定的体细胞突变进行患者特异性靶向测序。然后，进行靶向MYD 88 c.T778C的第二次测序，并与来自25名患有其他类型癌症的年龄匹配对照患者的血浆样品进行比较。根据患者特异性靶向测序，8名患者（32% [95% CI 15-54%]）在cfDNA中具有可检测的体细胞突变。考虑到MYD 88测序，6名患者在血浆中检测到特异性c.T778C改变。使用对照组，灵敏度为24% [9-45%]，特异性为100%。肿瘤体积或深部脑结构受累不影响血浆中体细胞突变的检测。这项初步研究提供了证据，表明可以通过NGS在患有PCNSL的患者子集的cfDNA中检测体细胞突变。
Primary central nervous system lymphomas (PCNSL) have recurrent genomic alterations. The main objective of our study was to demonstrate that targeted sequencing of circulating cell-free DNA (cfDNA) released by PCNSL at the time of diagnosis could identify somatic mutations by next-generation sequencing (NGS). PlasmacfDNA and matched tumor DNA (tDNA) from 25 PCNSL patients were sequenced using an Ion Torrent Personal Genome Machine (Life Technologies®). First, patient-specific targeted sequencing of identified somatic mutations in tDNA was performed. Then, a second sequencing targeting MYD88 c.T778C was performed and compared to plasma samples from 25 age-matched control patients suffering from other types of cancer. According to the patient-specific targeted sequencing, eight patients (32% [95% CI 15-54%]) had detectable somatic mutations in cfDNA. Considering MYD88 sequencing, six patients had the specific c.T778C alteration detected in plasma. Using a control group, the sensitivity was 24% [9-45%] and the specificity was 100%. Tumor volume or deep brain structure involvement did not influence the detection of somatic mutations in plasma. This pilot study provided evidence that somatic mutations can be detected by NGS in the cfDNA of a subset of patients suffering from PCNSL.
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DOI：
10.1158/1078-0432.ccr-15-0584
发表时间：
2015-10-15
期刊：
Clinical cancer research : an official journal of the American Association for Cancer Research
影响因子：
--
作者：
Frenel JS;Carreira S;Goodall J;Roda D;Perez-Lopez R;Tunariu N;Riisnaes R;Miranda S;Figueiredo I;Nava-Rodrigues D;Smith A;Leux C;Garcia-Murillas I;Ferraldeschi R;Lorente D;Mateo J;Ong M;Yap TA;Banerji U;Gasi Tandefelt D;Turner N;Attard G;de Bono JS
通讯作者：
de Bono JS
影响因子：
50.5
作者：
Jamal-Hanjani, M.;Wilson, G. A.;Swanton, C.
通讯作者：
Swanton, C.
影响因子：
17.1
作者：
Leary RJ;Sausen M;Kinde I;Papadopoulos N;Carpten JD;Craig D;O'Shaughnessy J;Kinzler KW;Parmigiani G;Vogelstein B;Diaz LA Jr;Velculescu VE
通讯作者：
Velculescu VE
DOI：
10.1093/bioinformatics/btu436
发表时间：
2014-12-15
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Boeva V;Popova T;Lienard M;Toffoli S;Kamal M;Le Tourneau C;Gentien D;Servant N;Gestraud P;Rio Frio T;Hupé P;Barillot E;Laes JF
通讯作者：
Laes JF
DOI：
10.1093/bioinformatics/btp698
发表时间：
2010-03-01
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Li H;Durbin R
通讯作者：
Durbin R