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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.

作者信息

Proietti I, Michelini S, Di Fraia M, Mambrin A, Petrozza V, Porta N, Pacini L, Calogero A, Skroza N, Potenza C

机构信息

Dermatology Unit 'Daniele Innocenzi', Department of Medical-Surgical Sciences and Bio-Technologies, Sapienza University of Rome, Polo Pontino, Italy.

Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University, Rome, Italy, Pathology Unit, I.C.O.T. Hospital, Latina, Italy.

出版信息

J Eur Acad Dermatol Venereol. 2020 Aug;34(8):e393-e395. doi: 10.1111/jdv.16294. Epub 2020 May 15.

DOI:10.1111/jdv.16294
PMID:32056293
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7540693/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30bc/7540693/524487da2fb4/JDV-34-e393-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30bc/7540693/48cedd96268f/JDV-34-e393-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30bc/7540693/524487da2fb4/JDV-34-e393-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30bc/7540693/48cedd96268f/JDV-34-e393-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30bc/7540693/524487da2fb4/JDV-34-e393-g002.jpg

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本文引用的文献

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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.
2
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.
3
Next generation sequencing of exceptional responders with BRAF-mutant melanoma: implications for sensitivity and resistance.
BRAF 突变型黑色素瘤中卓越应答者的下一代测序：对敏感性和耐药性的影响
BMC Cancer. 2015 Feb 18;15:61. doi: 10.1186/s12885-015-1029-z.
4
BRAF and NRAS mutations are heterogeneous and not mutually exclusive in nodular melanoma.BRAF和NRAS突变具有异质性，在结节性黑色素瘤中并非相互排斥。
Appl Immunohistochem Mol Morphol. 2015 Mar;23(3):172-7. doi: 10.1097/PAI.0000000000000071.
5
Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations.高分辨率熔解分析、焦磷酸测序、下一代测序和免疫组织化学与传统桑格测序在检测p.V600E和非p.V600E BRAF突变方面的比较。
BMC Cancer. 2014 Jan 10;14:13. doi: 10.1186/1471-2407-14-13.