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在CDKN2A缺失背景下,C-MYC拷贝数增加与结节性黑色素瘤患者生存率提高相关。

Increased C-MYC copy numbers on the background of CDKN2A loss is associated with improved survival in nodular melanoma.

作者信息

Koynova Denitsa, Jordanova Ekaterina, Kukutsch Nicole, van der Velden Pieter, Toncheva Draga, Gruis Nelleke

机构信息

Department of Medical Genetics, Medical University Sofia, 2 Zdrave Str, 1431, Sofia, Bulgaria.

出版信息

J Cancer Res Clin Oncol. 2007 Feb;133(2):117-23. doi: 10.1007/s00432-006-0150-4. Epub 2006 Sep 15.

Abstract

PURPOSE

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.

METHODS

Fluorescent in situ hybridization was used to analyse the C-MYC and CDKN2A genes on isolated nuclei from 49 paraffin-embedded primary NMs.

RESULTS

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.

CONCLUSIONS

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.

摘要

目的

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。

方法

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。

结果

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。

结论

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。

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