【作者】 张燕；

【导师】 普雄明；

【作者基本信息】 石河子大学 ， 病理学与病理生理学， 2014， 硕士

【摘要】 目的：Kaposi肉瘤是又称多发性、特发性出血性肉瘤，是一种少见的多中心性发生的肿瘤。由于在有关血管肿瘤的命名中将Kaposi肉瘤定义为中度恶性血管肿瘤，且临床上常可见到经典型Kaposi肉瘤患者长期带瘤生存，医源型Kaposi肉瘤患者在去除免疫抑制剂后皮损可自愈，因此一些学者认为Kaposi肉瘤为良性增生性疾病。本研究通过检测HUMARA基因，分析Kaposi肉瘤组织的X染色体失活方式，从而探讨其克隆性起源。方法：选择25例女性石蜡包埋组织，其中Kaposi肉瘤组15例，皮肤良性血管瘤组10例，分别提取DNA，经甲基化敏感限制性内切酶HpaII酶切消化，聚合酶链反应（PCR）扩增HUMARA基因，产物经10%聚丙烯酰胺凝胶电泳（SDS-PAGE），溴化乙锭染色后显示该基因多态性，以此判断Kaposi肉瘤克隆状态。结果：15例Kaposi肉瘤石蜡组织样本中，HUMARA基因杂合子13例，其中X染色体HUMARA基因杂合性丢失（即酶切前为2条带、酶切后为1条带）12例（12/13），为单克隆性；10例皮肤良性血管瘤中，HUMARA基因杂合子9例，仅1例杂合性丢失，两组差异有统计学意义（P<0.01）。不同民族、分期、HIV和HHV-8感染的Kaposi肉瘤单克隆率差异无统计学意义（P>0.05）。结论：Kaposi肉瘤可能是单个细胞克隆起源的肿瘤。Kaposi肉瘤的克隆性可能与民族、分期、HIV和HHV-8感染无明显相关性。更多还原

【Abstract】 Objective: Kaposi sarcoma is also known as multiple idiopathic hemorrhagic sarcoma, it is arare multicentric tumor. Because in the naming of vascular tumours defined Kaposi sarcoma as aintermediate malignancy, and clinically often visible to the classic-Kaposi sarcoma patients hadlong-term survival with tumor, iatrogenic-Kaposi sarcoma patients’ lesions can remove afterwithdrawal of immunosuppressive agents, it has been argued to be a benign proliferation disease.To analyze the clonality in Kaposi sarcoma by evaluating X-chromosome inactivation pattern inthe human androgen receptor (HUMARA) gene analysis.Methods： Twenty-five paraffin-embedded tissue specimens were collected from female patientswith Kaposi sarcoma (n=15) or cutaneous hemangioma (n=10). DNA was extracted from thesespecimens, and digested with the methylation-sensitive restriction endonuclease HpaII. PCR wasperformed to amplify the HUMARA gene, and the amplicons were separated on10%denaturingpolyacrylamied gels and stained with ethidium bromid (EB). The loss of heterozygosity of theHUNARA gene was defined as the presence of two DNA fragments before and one fragment afterthe endonuclease digestion. The clonality in Kaposi sarcoma lesions was assessed bassed on theabrove results.Results： Among the15patients with Kaposi sarcoma,13(86.7%) were heterozygous for theHUMARA gene, of which,92.31%(12/13) showed loss of heterozygosity of the HUMARA geneon X-chromosome, suggesting a monoclonal orign. Of the10patients with cutaneoushemangioma,9were heterozygous for the HUMARA gene, and only one lost heterozygosity ofthe HUMARA gene. The heterozygosity rate for HUMARA gene was significantly differentbetween the patients with Kaposi sarcoma and cutaneous hemangioma (P<0.01). No statisticaldifference was observed in the clonality status of Kaposi sarcoma between patients of differentnationality, at different stages, or between patients with or without complicated HIV and HHV-8infection (all P>0.05).Conclusion：Kaposi sarcoma maybe is a kind of monoclonal origin tumor, and maybe there is nosignificant associations between clonality and tumor nations, staging, HIV and HHV-8infection．更多还原