摘要
文中综述了有关胸腺上皮性肿瘤分子病理的研究现状,分子遗传学研究发现,WHO胸腺瘤分类的A型和AB型,出现遗传学变异率较低(7%～8%),B2及B3型胸腺瘤变异率较高(近20%)。近年来的研究热点集中在该类肿瘤的信号通路及靶向治疗。从免疫组化研究提示,表皮生长因子受体(epidermal growth factor receptor,EGFR)在胸腺瘤及胸腺癌表达水平通常较高,而荧光原位杂交(fluorescence in situ hybridization,FISH)检测则发现,EGFR几乎很少出现基因突变(1.9%),少数报道肯定了胸腺肿瘤EGFR靶向治疗的应用前景。对v-kit猫科肉瘤病毒转化基因(v-kit Hardy-Zuckerman 4 feline sarcomaviral oncogene hemolog,KIT)的研究表明,有2%胸腺瘤及79%胸腺癌中KIT呈高表达,而仅7%的胸腺癌存在KIT的突变,且KIT高表达与KIT突变无相关性。有人认为,在胸腺肿瘤中KIT突变的临床意义具有局限性。此外,对于胰岛素样生长因子1受体(insulin-like growth factor-1 receptor,IGF-1R)、血管内皮生长因子受体(vascular endothelial growth factor receptor,VEGFR)信号通路运用于胸腺上皮性肿瘤靶向治疗的效果,其相关临床研究尚在进行中。
Molecular genetic findings show that types A and AB thymomas have a low frequency （7% -8% ） of allelic imbal- ance, whereas B2 and B3 an alteration rate of approximately 20%. Recent researches focus on the signaling pathway and targeted thera pies of the tumors. Immunohistochemical findings indicate that the epidermal growth factor receptor （EGFR） is overexpressed in most thymic carcinomas, while FISH shows rare EGFR mutations in thymic malignancies （1.9%）. Responses to EGFR inhibitors have been observed in several cases. KIT is overexpressed in 2% of thymomas and 79% of thymic carcinomas, while KIT mutations are found in only 7% of thymic carcinomas and not related with the KIT overexpression. The clinical relevance of KIT mutations is comparatively limited in thymic malignancies. Apart from EGFR and KIT signaling pathways, other molecular alterations with potential prognostic or therapeutic relevance are emerging in thymic malignancies, such as IGF-1R and VEGFR signaling pathways.
出处
《医学研究生学报》
CAS
北大核心
2013年第3期314-318,共5页
Journal of Medical Postgraduates
关键词
胸腺瘤
胸腺癌
分子病理
表皮生长因子受体
v-kit猫科肉瘤病毒转化基因
Thymoma
Thymic carcinomas
Molecular pathology
Epidermal growth factor receptor
v-kit Hardy-Zuckerman4 feline sarcoma viral oncogene hemolog
