Shenzhen Key Lab for Translational Medicine of Dermatology, Shenzhen-PKU-HKUST Medical Center, Shenzhen, Guangdong 518036, China.
Clin Transl Oncol. 2012 Feb;14(2):138-42. doi: 10.1007/s12094-012-0773-7.
Smad2 and Smad4 transcription factors were identified as the signalling mediators of transforming growth factor Β (TGF Β) pathway. Copy number variations (CNVs) have been discovered to have phenotypic consequences and be associated with various types of cancers. CNVs of Smad2 and Smad4 were found to be associated with cancer pathogenesis in the recent array-based study. However, no such study has been performed in skin cancer yet. In this study, we aim to examine the CNVs of Smad2 and Smad4 in skin samples.
A total of 195 paired samples including basal cell carcinoma (BCC), squamous cell carcinoma (SCC) and actinic keratosis (AK) were included. Real-time PCR was used for the quantification of Smad2 and Smad4 copy numbers.
CNVs of Smad2 showed statistical differences between cancer samples (both SCC and BCC) and normal tissues (p<0.05). For Smad4, statistical difference was observed only in SCC samples (p=0.014), but not in BCC and AK samples (p=0.173 and 0.314, respectively). Association analysis showed that the frequencies of Smad2 and Smad4 CNVs were correlated with the severity of skin abnormalities (p=0.002 for Smad2 and p=0.029 for Smad4).
CNVs of Smad2 are associated with SCC and BCC, while CNVs of Smad4 are associated with SCC but not BCC.
Smad2 和 Smad4 转录因子被鉴定为转化生长因子 Β（TGF Β）通路的信号转导介质。拷贝数变异（CNVs）已被发现具有表型后果，并与各种类型的癌症有关。基于阵列的最近研究发现 Smad2 和 Smad4 的 CNVs 与癌症发病机制有关。然而，目前尚未在皮肤癌中进行此类研究。在这项研究中，我们旨在检查皮肤样本中 Smad2 和 Smad4 的 CNVs。
共纳入 195 对包括基底细胞癌（BCC）、鳞状细胞癌（SCC）和光化性角化病（AK）的样本。实时 PCR 用于定量 Smad2 和 Smad4 的拷贝数。
Smad2 的 CNVs 在癌症样本（SCC 和 BCC）与正常组织之间存在统计学差异（p<0.05）。对于 Smad4，仅在 SCC 样本中观察到统计学差异（p=0.014），但在 BCC 和 AK 样本中则没有（p=0.173 和 0.314）。关联分析表明，Smad2 和 Smad4 CNVs 的频率与皮肤异常的严重程度相关（p=0.002 用于 Smad2，p=0.029 用于 Smad4）。
Smad2 的 CNVs 与 SCC 和 BCC 相关，而 Smad4 的 CNVs 与 SCC 相关，但与 BCC 无关。
