黑色素瘤基因组学--我们的临床研究是否会超越 BRAF?

IF 2.7 3区 医学 Q3 ONCOLOGY Journal of Cancer Research and Clinical Oncology Pub Date : 2024-09-28 DOI:10.1007/s00432-024-05957-2
Justyna Mirek, Wiesław Bal, Magdalena Olbryt
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引用次数: 0

摘要

在新一代测序时代,包括黑色素瘤在内的癌症遗传背景似乎已被彻底确定。然而,在晚期黑色素瘤的分子靶向治疗中,评估癌基因 BRAF 的 V600 密码子突变仍然是临床上常用的唯一辅助诊断基因组检测方法。我们是否在浪费收集到的基因组数据?我们是否会很快在临床上应用我们现有的黑色素瘤基因组知识?这个问题相当紧迫,因为临床上需要新的治疗靶点和生物标志物来实施更个性化、更适合患者的治疗。在此,我们将提供黑色素瘤分子背景的最新信息,包括对四种已确立的分子亚型的描述:BRAF+、NRAS+、NF1+ 和三重 WT,以及相对较新的 NGS 衍生黑色素瘤基因,如 PREX2、ERBB4、PPP6C、FBXW7、PIK3CA 和 IDH1。我们还对近年来获得的基因组图谱进行了比较,重点关注最常见的黑色素瘤基因。最后,我们提出了由 22 个基因组成的黑色素瘤基因面板,我们认为这些基因是黑色素瘤特异性基因组检测和泛癌检测中的 "必备 "基因,可进一步改善黑色素瘤的治疗。
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Melanoma genomics - will we go beyond BRAF in clinics?

In the era of next-generation sequencing, the genetic background of cancer, including melanoma, appears to be thoroughly established. However, evaluating the oncogene BRAF mutation in codon V600 is still the only companion diagnostic genomic test commonly implemented in clinics for molecularly targeted treatment of advanced melanoma. Are we wasting the collected genomic data? Will we implement our current genomic knowledge of melanoma in clinics soon? This question is rather urgent because new therapeutic targets and biomarkers are needed to implement more personalized, patient-tailored therapy in clinics. Here, we provide an update on the molecular background of melanoma, including a description of four already established molecular subtypes: BRAF+, NRAS+, NF1+, and triple WT, as well as relatively new NGS-derived melanoma genes such as PREX2, ERBB4, PPP6C, FBXW7, PIK3CA, and IDH1. We also present a comparison of genomic profiles obtained in recent years with a focus on the most common melanoma genes. Finally, we propose our melanoma gene panel consisting of 22 genes that, in our opinion, are "must-have" genes in both melanoma-specific genomic tests and pan-cancer tests established to improve the treatment of melanoma further.

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来源期刊
CiteScore
4.00
自引率
2.80%
发文量
577
审稿时长
2 months
期刊介绍: The "Journal of Cancer Research and Clinical Oncology" publishes significant and up-to-date articles within the fields of experimental and clinical oncology. The journal, which is chiefly devoted to Original papers, also includes Reviews as well as Editorials and Guest editorials on current, controversial topics. The section Letters to the editors provides a forum for a rapid exchange of comments and information concerning previously published papers and topics of current interest. Meeting reports provide current information on the latest results presented at important congresses. The following fields are covered: carcinogenesis - etiology, mechanisms; molecular biology; recent developments in tumor therapy; general diagnosis; laboratory diagnosis; diagnostic and experimental pathology; oncologic surgery; and epidemiology.
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