Dasu M R K, Barrow R E, Hawkins H K, McCauley R L
Department of Surgery, University of Texas Medical Branch, Galveston, TX 77550, USA.
J Clin Pathol. 2004 Aug;57(8):849-55. doi: 10.1136/jcp.2003.014274.
Congenital neomelanocytic naevi appear in nearly 1% of newborns. Giant hairy naevi (GHN) are uncommon lesions covering large areas of the body. They are of concern because they have the potential to transform into malignant melanomas.
To describe gene expression profiles of GHN and nearby normal skin from patients with GHN and normal control skin (from patients with cleft lip/palate).
Tissues from three patients with GHN and two normal controls were studied for differences in gene expression profiles. Total RNA was isolated from normal skin near the hairy naevus, GHN, and skin from normal controls. The RNA samples were subjected to probe labelling, hybridisation to chips, and image acquisition according to the standard Affymetrix protocol.
There were 227 genes affected across all samples, as determined by DNA microarray analysis. There was increased expression of 22 genes in GHN compared with nearby normal skin. Decreased expression was noted in 73 genes. In addition, there was increased expression of 36 genes in normal skin near GHN compared with normal control skin, and decreased expression of five genes. Categories of genes affected were those encoding structural proteins, proteins related to developmental processes, cell death associated proteins, transcription factors, growth factors, stress response modulators, and collagen associated proteins. Changes in mRNA expression were checked by reverse transcription polymerase chain reaction.
Genetic profiles of GHN may provide insight into their pathogenesis, including their potential for malignant transformation. Such information may be useful in improving the understanding and management of these lesions.
先天性痣细胞痣在近1%的新生儿中出现。巨大毛痣（GHN）是覆盖身体大面积区域的罕见病变。它们令人担忧，因为有转化为恶性黑色素瘤的可能性。
描述巨大毛痣患者的巨大毛痣及其附近正常皮肤以及正常对照皮肤（来自唇腭裂患者）的基因表达谱。
研究了3例巨大毛痣患者和2例正常对照的组织，以分析基因表达谱的差异。从毛痣附近的正常皮肤、巨大毛痣以及正常对照的皮肤中分离总RNA。根据标准的Affymetrix方案，对RNA样本进行探针标记、芯片杂交和图像采集。
通过DNA微阵列分析确定，所有样本中有227个基因受到影响。与附近正常皮肤相比，巨大毛痣中有22个基因表达增加。73个基因表达减少。此外，与正常对照皮肤相比，巨大毛痣附近的正常皮肤中有36个基因表达增加，5个基因表达减少。受影响的基因类别包括编码结构蛋白、与发育过程相关的蛋白、细胞死亡相关蛋白、转录因子、生长因子、应激反应调节蛋白以及胶原相关蛋白的基因。通过逆转录聚合酶链反应检查mRNA表达的变化。
巨大毛痣的基因谱可能有助于深入了解其发病机制，包括其恶性转化的可能性。此类信息可能有助于增进对这些病变的理解和管理。
