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面板测序黑色素瘤。

Panel sequencing melanomas.

机构信息

West German Cancer Center, Department of Dermatology, University Hospital Essen, University Duisburg-Essen and the German Cancer Consortium (DKTK), Essen, Germany.

West German Cancer Center, Department of Dermatology, University Hospital Essen, University Duisburg-Essen and the German Cancer Consortium (DKTK), Essen, Germany.

出版信息

J Invest Dermatol. 2015 Feb;135(2):335-336. doi: 10.1038/jid.2014.420.

DOI:10.1038/jid.2014.420
PMID:25573045
Abstract

Sequencing samples of melanoma for targetable mutations has become a standard of care for metastatic disease. In this issue, Siroy et al. demonstrate how clinical genetic analysis is moving from a single-gene Sanger-sequencing approach to targeted next-generation sequencing. They present data on a large cohort of patients with advanced melanoma, and their data support previous findings and also present novel aspects of melanoma genetics.

摘要

对黑色素瘤进行靶向突变的测序已成为转移性疾病的标准治疗方法。在本期中,Siroy 等人展示了临床基因分析如何从单基因 Sanger 测序方法转向靶向下一代测序。他们提供了大量晚期黑色素瘤患者的数据,这些数据支持了先前的发现,并呈现了黑色素瘤遗传学的新方面。

相似文献

1
Panel sequencing melanomas.面板测序黑色素瘤。
J Invest Dermatol. 2015 Feb;135(2):335-336. doi: 10.1038/jid.2014.420.
2
Next-Generation Sequencing to Guide Treatment of Advanced Melanoma.下一代测序指导晚期黑色素瘤的治疗。
Am J Clin Dermatol. 2017 Jun;18(3):303-310. doi: 10.1007/s40257-017-0260-6.
3
Allele frequencies of BRAFV600 mutations in primary melanomas and matched metastases and their relevance for BRAF inhibitor therapy in metastatic melanoma.原发性黑色素瘤及配对转移灶中BRAFV600突变的等位基因频率及其与转移性黑色素瘤BRAF抑制剂治疗的相关性。
Oncotarget. 2015 Nov 10;6(35):37895-905. doi: 10.18632/oncotarget.5634.
4
Impact of Sun Exposure and Tanning Patterns on Next-Generation Sequencing Mutations in Melanoma.阳光暴露和晒黑模式对黑色素瘤下一代测序突变的影响。
J Surg Res. 2020 Oct;254:147-153. doi: 10.1016/j.jss.2020.04.021. Epub 2020 May 21.
5
Comparison of targeted next generation sequencing (NGS) versus isolated BRAF V600E analysis in patients with metastatic melanoma.对比转移性黑色素瘤患者的靶向下一代测序(NGS)与 BRAF V600E 单独分析。
Virchows Arch. 2018 Sep;473(3):371-377. doi: 10.1007/s00428-018-2393-2. Epub 2018 Jun 21.
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Detection of BRAF V600 mutations in metastatic melanoma: comparison of the Cobas 4800 and Sanger sequencing assays.检测转移性黑色素瘤中的 BRAF V600 突变:Cobas 4800 与 Sanger 测序检测方法的比较。
J Mol Diagn. 2013 Nov;15(6):790-5. doi: 10.1016/j.jmoldx.2013.07.003. Epub 2013 Aug 28.
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A rare BRAF V600E mutation detected by next-generation sequencing in a superficial spreading melanoma: case report and potential diagnostic implications.通过二代测序在浅表扩散性黑色素瘤中检测到罕见的BRAF V600E突变:病例报告及潜在诊断意义
J Eur Acad Dermatol Venereol. 2020 Aug;34(8):e393-e395. doi: 10.1111/jdv.16294. Epub 2020 May 15.
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Molecular platforms utilized to detect BRAF V600E mutation in melanoma.用于检测黑色素瘤中BRAF V600E突变的分子平台。
Semin Cutan Med Surg. 2012 Dec;31(4):267-73. doi: 10.1016/j.sder.2012.07.007.
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High-throughput oncogene mutation profiling shows demographic differences in BRAF mutation rates among melanoma patients.高通量癌基因突变谱分析显示,黑色素瘤患者中BRAF突变率存在人口统计学差异。
Melanoma Res. 2015 Jun;25(3):189-99. doi: 10.1097/CMR.0000000000000149.
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The clinical significance of BRAF and NRAS mutations in a clinic-based metastatic melanoma cohort.一项基于临床的转移性黑色素瘤队列中 BRAF 和 NRAS 突变的临床意义。
Br J Dermatol. 2013 Nov;169(5):1049-55. doi: 10.1111/bjd.12504.

引用本文的文献

1
Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.迈向黑色素瘤个体化医学:临床下一代测序 panel 的实施。
Sci Rep. 2017 Mar 29;7(1):495. doi: 10.1038/s41598-017-00606-w.

本文引用的文献

1
TERT promoter mutation status as an independent prognostic factor in cutaneous melanoma.TERT 启动子突变状态作为皮肤黑色素瘤的独立预后因素。
J Natl Cancer Inst. 2014 Sep 13;106(9). doi: 10.1093/jnci/dju246. Print 2014 Sep.
2
Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.新一代测序在晚期黑色素瘤中对 BRAF(V600)以外的临床突变基因检测
J Invest Dermatol. 2015 Feb;135(2):508-515. doi: 10.1038/jid.2014.366. Epub 2014 Aug 22.
3
Ultraviolet radiation accelerates BRAF-driven melanomagenesis by targeting TP53.
紫外线辐射通过靶向 TP53 加速 BRAF 驱动的黑色素瘤发生。
Nature. 2014 Jul 24;511(7510):478-482. doi: 10.1038/nature13298. Epub 2014 Jun 11.
4
Highly recurrent TERT promoter mutations in human melanoma.人类黑色素瘤中高度复发的 TERT 启动子突变。
Science. 2013 Feb 22;339(6122):957-9. doi: 10.1126/science.1229259. Epub 2013 Jan 24.
5
TERT promoter mutations in familial and sporadic melanoma.TERT 启动子突变与家族性和散发性黑色素瘤。
Science. 2013 Feb 22;339(6122):959-61. doi: 10.1126/science.1230062. Epub 2013 Jan 24.
6
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.外显子组测序鉴定黑色素瘤中复发性体细胞 RAC1 突变。
Nat Genet. 2012 Sep;44(9):1006-14. doi: 10.1038/ng.2359. Epub 2012 Jul 29.
7
A landscape of driver mutations in melanoma.黑色素瘤中的驱动基因突变全景。
Cell. 2012 Jul 20;150(2):251-63. doi: 10.1016/j.cell.2012.06.024.
8
Mutations in GNA11 in uveal melanoma.GNA11 基因突变与葡萄膜黑色素瘤。
N Engl J Med. 2010 Dec 2;363(23):2191-9. doi: 10.1056/NEJMoa1000584. Epub 2010 Nov 17.
9
Distinct sets of genetic alterations in melanoma.黑色素瘤中不同的基因改变组合。
N Engl J Med. 2005 Nov 17;353(20):2135-47. doi: 10.1056/NEJMoa050092.
10
Mutation and expression of the p53 gene in human malignant melanoma.人类恶性黑色素瘤中p53基因的突变与表达
Melanoma Res. 1994 Feb;4(1):35-45. doi: 10.1097/00008390-199402000-00006.