Toren Amos, Reichardt Juergen K, Andalibi Ali, Hsu Nancy Ya-Hsuan, Doherty Joni, Slattery William, Mehrian-Shai Ruty
Institute for Genetic Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA 90089, USA.
Hum Genomics. 2014 Jun 30;8(1):10. doi: 10.1186/1479-7364-8-10.
Schwannomas are the most common neurofibromatosis type 2 (NF2)-associated tumors with significant phenotypic heterogeneity in patients. The most severe subtype has an early and rapid progression and the mild type has a later onset and a less aggressive course. The aim of this study was to elucidate the underlying molecular differences between these groups. We compared the gene expression pattern between patients with early to late age of onset.
A gene signature of 21 genes was constructed to differentiate between early-onset and late-onset patients. We confirmed these results by real-time PCR for SNF1LK2, NGFRAP1L1 (BEX 5), GMNN, and EPHA2.
Genes identified here may be additional aberrations in merlin-depleted cells that govern the disease onset. A significant number of these genes have been suggested as having a role in carcinogenesis and are used as biomarkers for prognosis in several other cancers. The role of these genes in NF2 carcinogenesis and their potential as biomarkers or drug target are worthwhile exploring.
施万细胞瘤是2型神经纤维瘤病（NF2）最常见的相关肿瘤，患者具有显著的表型异质性。最严重的亚型发病早且进展迅速，而轻度类型发病较晚且病程侵袭性较小。本研究的目的是阐明这些组之间潜在的分子差异。我们比较了早发型和晚发型患者之间的基因表达模式。
构建了一个由21个基因组成的基因特征，以区分早发型和晚发型患者。我们通过对SNF1LK2、NGFRAP1L1（BEX 5）、GMNN和EPHA2进行实时PCR证实了这些结果。
此处鉴定出的基因可能是在缺乏默林的细胞中控制疾病发作的其他异常。这些基因中有相当一部分已被认为在致癌过程中起作用，并被用作其他几种癌症预后的生物标志物。这些基因在NF2致癌过程中的作用及其作为生物标志物或药物靶点的潜力值得探索。
