肺上皮样血管内皮瘤遗传学分析

Cytogenetic Alterations in Lung Epithelioid Hemangioendothelioma

背景与目的:初步探讨肺上皮样血管内皮瘤细胞遗传学改变的特点。材料与方法:提取2例肺上皮样血管内皮瘤石蜡包埋的肿瘤组织DNA,利用微阵列比较基因组杂交(array-CGH)技术检测瘤组织DNA拷贝数缺失和扩增片段。结果:2例肺上皮样血管内皮瘤DNA拷贝数改变有诸多类似之处,且均以多条染色体DNA小片段(小于10 Mb)扩增为主,很少有缺失区域;具体涉及的基因分别为150个和556个,共同改变的基因为77个。结论:肺上皮样血管内皮瘤细胞遗传学改变可能主要以小片段DNA扩增为特点,该特点可以诠释此肿瘤的交界性或低度恶性临床病理特征。

BACKGROUND AND AIM： To study the characteristics of cytogenetic aherations of lung epithelioid hemangioendothelioma. MATERIALS AND METHODS： Whole DNA was isolated from two formalin-fixed and paraffin-embedded tissues of lung epithelioid hemangioendothelioma. The DNA copy number changes were measured by array-comparative genomic hybridization（array-CGH） RESULTS： Two epithelioid hemangioendotheliomas showed many similar DNA copy number changes. Gains of small fragments（ 〈 10 Mb） were the most frequent change while deletions were infrequent.There were 150 and 556 genes involved with 77 sharing common changes. CONCLUSION： Amplifications of small fragments of DNA maybe the main cytogenetic alteration in lung epithelioid hemangioendothelioma, which may explain that epithelioid hemangioendothelioma is a low-grade malignant tumor.