由先天性或普通痣引起的恶性黑色素瘤的动态分子景观

O. Harou, G. Tondeur, F. Descôtes, B. Balme, L. Depaepe, P. Bringuier, J. Caramel, L. Thomas, S. Dalle, Jonathan Lopez
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引用次数: 1

摘要

背景。有些皮肤黑色素瘤是由痣引起的,可能是先天性的,也可能是普通的。目的:我们的目的是比较:i)中小先天性痣和普通痣的基因组图谱;ii)探索这两组在黑色素瘤进展过程中是否存在不同的突变模式。方法:分析微解剖黑素细胞痣的BRAF、NRAS和TERT启动子状态,并对42例配对黑素瘤进行大规模平行测序,其中一半为先天性黑素瘤,一半为普通黑素瘤。结果:普通痣和中小痣主要携带BRAF V600E突变,发生率相近。在黑色素瘤进展过程中,两组均获得复发的二次打击TERT启动子突变。影响致癌途径的其他基因组改变也在进展过程中积累,没有特定的模式。结论:小/中型先天性痣和普通痣具有相同的突变景观,在发展为黑色素瘤的过程中没有表现出任何差异。
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The dynamic molecular landscape of malignant melanomas arising from congenital or common nevi
Background. Some cutaneous melanomas are arising from nevus, that can be either from the congenital or the common type. Objective: We aimed at comparing: i) the genomic landscape of small/medium congenital versus common nevi and ii) explore whether there is a different mutational pattern acquired during progression to melanoma between this two groups. Methods: We analysed BRAF, NRAS and TERT promoter status on micro-dissected melanocytic nevi and performed massively parallel sequencing on paired melanomas in 42 patients, half from the congenital and half from the common type. Results: Both common and small/medium congenital nevi mainly harboured BRAF V600E mutation at a similar rate. During melanoma progression, both groups acquired recurrent second hit TERT promoter mutations. Additional genomic alterations affecting oncogenic pathways also accumulated during progression, without a specific pattern. Conclusions: Small/medium congenital and common nevi shared the same mutational landscape and did not show any difference during progression to melanoma.
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