Koynova Denitsa, Jordanova Ekaterina, Kukutsch Nicole, van der Velden Pieter, Toncheva Draga, Gruis Nelleke
Department of Medical Genetics, Medical University Sofia, 2 Zdrave Str, 1431, Sofia, Bulgaria.
J Cancer Res Clin Oncol. 2007 Feb;133(2):117-23. doi: 10.1007/s00432-006-0150-4. Epub 2006 Sep 15.
In order to obtain better insight into the genetic background of nodular melanoma (NM), we aimed to analyse the frequency of CDKN2A and C-MYC copy number changes. The impact of these aberrations on the metastatic potential and patient's survival was considered.
Fluorescent in situ hybridization was used to analyse the C-MYC and CDKN2A genes on isolated nuclei from 49 paraffin-embedded primary NMs.
Thirty-six (73.47%) melanoma samples showed CDKN2A deletion while 11 of these 36 (22.45%) additionally displayed C-MYC increased copy numbers. Cases positive for metastases more commonly displayed CDKN2A deletions. However, the combined C-MYC and CDKN2A aberrations were found predominantly in the non-metastasizing group of primary NM. The survival analysis furthermore demonstrated that patients with combined CDKN2A and C-MYC aberrations have a significantly better prognosis than carriers of CDKN2A deletion only.
We conclude that the C-MYC increased copy number changes on the background of CDKN2A deletions seem to be related to a low metastatic potential and better patients' outcome in primary NMs.
为了更深入了解结节性黑色素瘤(NM)的遗传背景,我们旨在分析CDKN2A和C-MYC拷贝数变化的频率。还考虑了这些畸变对转移潜能和患者生存的影响。
采用荧光原位杂交技术分析49例石蜡包埋的原发性NM分离细胞核中的C-MYC和CDKN2A基因。
36例(73.47%)黑色素瘤样本显示CDKN2A缺失,其中11例(22.45%)还显示C-MYC拷贝数增加。发生转移的病例更常见CDKN2A缺失。然而,C-MYC和CDKN2A联合畸变主要见于原发性NM的非转移组。生存分析进一步表明,CDKN2A和C-MYC联合畸变的患者预后明显好于仅携带CDKN2A缺失的患者。
我们得出结论,在CDKN2A缺失背景下C-MYC拷贝数增加的变化似乎与原发性NM的低转移潜能和更好的患者预后相关。