肾透明细胞癌克隆起源的X染色体失活类型研究

Study on clonal origin of renal clear renal carcinoma by X-chromosome inactivation patterns

目的探讨肾透明细胞癌（cc—RCC）的克隆起源。方法提取15例女性cc—RCC及对应正常肾组织DNA，经甲基化敏感的HhaI消化，聚合酶链反应（PCR）扩增人类雄激素受体（HUMARA），产物经聚丙烯凝胶电泳银染显示其长度多态性。结果15例病例标本HUMARA杂合率为86．7％（13／15）。13例cc—RCCX染色体HUMARA杂合性丢失11例（84．6％），为单克隆性。13例正常肾组织仅1例杂合性丢失（7．7％），差异有统计学意义（Fisher’s确切概率法P〈0．01）。不同分期及不同分级cc—RCC单克隆率差异无统计学意义（P〉0．05）。结论。肾透明细胞癌是一种单细胞克隆起源的肿瘤。肾透明细胞癌的单克隆性与其发展进程及恶性程度无明显相关。

Objective To investigate the clonal origin of renal clear cell carcinomas （cc-RCC）. Methods Tissue DNA was extracted from 15 female cc-RCC and the corresponding normal kidney tissues, and digested by methylation sensitive restriction endonuclease HhaI. HUMARA fragment was amplified by using polymerase chain reaction （PCR） and the product was electrophoresed and silver stained to show the length polymorphism. Results In the 15 cases, heterozygosity of HUMARA was observed in 13 （86. 7% ）. Loss of heterozygosity （LOH） of HUMARA on X-chromosome, representing monoclonal ori- gin, was 84. 6% （ 11/13 ） for cc-RCC and 7.7% for normal kidney tissue, respectively （P 〈 0. 05）. There was no significant difference among different stages and pathological grades of cc-RCC （ P 〉 0.05 ）. Conclusion RCC is a kind of monoclonal origin tumor and the clonality is not significantly associated with tumor staging and grading