肿瘤相关50基因突变检测

肿瘤相关50基因检测是以二代测序技术为基础的针对性突变检测，应用lon AmpliSeq 试剂盒对样本中的DNA进行多重PCR扩增，。在lon Torrent Personal Genome 测序仪平台上进行检测，测序结果通过Torrent Suite 软件进行分析。

检测流程

该方法目前已运用在等恶性肿瘤突变热点筛选鉴定^[1]和个性化治疗^[2]中得广泛应用和研究，在非小细胞肺癌^[3]、食管癌^{[4, 5]}、胃癌^[6]、结直肠癌^{[7, 8]}、髓样甲状腺瘤^[9]、转移胃肠神经内分泌瘤^[10]、转移性黑色素瘤^[11]、骨髓纤维瘤^[12]、儿童侵袭性纤维瘤^[13]的肿瘤组织的驱动突变鉴定或疗效及预后评估均已有相关文献报道。

除了用于组织标本的检测，肿瘤相关50基因检测也可用于液体活检中的基因突变鉴定。用该检测分别检测乳腺癌患者外周血游离DNA和组织中的突变情况，一致率可达76%^[14]；2016年ASCO年会中最新发布的摘要指出，该检测对肺癌患者的肿瘤外周血游离DNA和组织样本分别进行检测，检出突变的一致性为70.66%，在III期肺癌患者中一致性可达80.36%^[15]，早期（I期及II期）肺癌患者中的一致性也在60%以上^{[15, 16]}。

图片：乳腺癌患者肿瘤组织与外周血中检出突变的一致率为76%^[14]

收到样本后10个工作日

参考文献

[1]Singh RR, Patel KP, et al. Clinical validation of a next-generation sequencing screen for mutational hotspots in 46 cancer-related genes. J Mol Diagn. 2013 Sep;15(5):607-22.

[2]Uzilov AV, Ding W, et al. Development and clinical application of an integrative genomic approach to personalized cancer therapy. Genome Med. 2016 Jun 1;8(1):62.

[3] Fujita S, Masago K, et al. Validation of an Ion Torrent Sequencing Platform for the Detection of Gene Mutations in Biopsy Specimens from Patients with Non-Small-Cell Lung Cancer. PLoS One. 2015 Jun 15;10(6):e0130219.

[4]van Nistelrooij AM, van Marion R; et al. Early onset esophageal adenocarcinoma: a distinct molecular entity? Oncoscience. 2016 Feb 1;3(1):42-8.

[5]Zheng H, Wang Y, et al. TP53, PIK3CA, FBXW7 and KRAS Mutations in Esophageal Cancer Identified by Targeted Sequencing. Cancer Genomics Proteomics.  2016 05-06;13(3):231-8.

[6]Kim S, Lee J, et al. High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer. PLoS One. 2014 Nov 5;9(11):e111693.

[7]Zhang L, Chen L, Sah S, et al. Profiling cancer gene mutations in clinical formalin-fixed, paraffin-embedded colorectal tumor specimens using targeted next-generation sequencing. Oncologist. 2014 Apr;19(4):336-43.

[8]Simbolo M, Mafficini A, et al. Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. Hered Cancer Clin Pract. 2015 Aug 21;13(1):18.

[9]Ji JH, Oh YL, et al. Identification of Driving ALK Fusion Genes and Genomic Landscape of Medullary Thyroid Cancer. PLoS Genet. 2015 Aug 21;11(8):e1005467.

[10]Kim ST, Lee SJ, et al. Genomic Profiling of Metastatic Gastroenteropancreatic Neuroendocrine Tumor (GEP-NET) Patients in the Personalized-Medicine Era. J Cancer. 2016 May 25;7(9):1044-8.

[11]Pinto R, De Summa S,et al. The next generation of metastatic melanoma: Uncovering the genetic variants for anti-BRAF therapy response. Oncotarget. 2016 Feb 3. doi:10.18632/oncotarget.7175. [Epub ahead of print]

[12] Tenedini E, Bernardis I, et al. Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms. Leukemia. 2014 May;28(5):1052-9.

[13]Meazza C, Belfiore A, et al. AKT1 and BRAF mutations in pediatric aggressive fibromatosis. Cancer Med. 2016 Jun;5(6):1204-13.

[14]Rothé F, Laes JF, et al. Plasma circulating tumor DNA as an alternative to metastatic biopsies for mutational analysis in breast cancer. Ann Oncol. 2014 Oct;25(10):1959-65.

[15]Yang F, Chen KZ, et al. Comparison between circulating tumor DNA and tumor tissue multiple gene detection in non-small cell lung cancer patients by targeted sequencing with the Ion PGM and AmpliSeq Cancer Panel. J Clin Oncol. 2016;34: suppl; abstr 8544.

[16]Chen KZ,Lou F, et al. Circulating tumor DNA detection in stage I non-small cell lung cancer patients by targeted sequencing. J Clin Oncol. 2016;34: suppl; abstr 8514.