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家族性复发性葡萄胎的临床特征及遗传学分析
  • 期刊名称:中华妇产科杂志.2006, 41:177-181.
  • 时间:0
  • 分类:R737.33[医药卫生—肿瘤;医药卫生—临床医学] R394[医药卫生—医学遗传学;医药卫生—基础医学]
  • 作者机构:[1]中国医学科学院中国协和医科大学北京协和医院妇产科,100730, [2]中国医学科学院分子细胞遗传实验教学中心, [3]皖南医学院附属医院妇产科
  • 相关基金:国家自然科学基金资助项目(30571946)
  • 相关项目:葡萄胎发生、发展中基因印记机制及蛋白组学研究
中文摘要:

目的探讨家族性复发性葡萄胎(FRM)的临床及遗传学特征。方法回顾性分析2例FRM患者的临床资料,并对2例FRM及6例散发性葡萄胎患者及葡萄胎组织的DNA进行微卫星多态性检测,以鉴定葡萄胎的遗传学起源。结果2例FRM患者均为罕见的双亲来源的完全性葡萄胎(BiCHM);6例散发性葡萄胎患者中,1例部分性葡萄胎为双亲三倍体,其余5例完全性葡萄胎均为孤雄完全性葡萄胎。2例FRM患者在葡萄胎之后都继发了侵蚀性葡萄胎或绒毛膜癌,并发生了肺转移,但经过化疗和(或)肺叶切除,均已达到完全缓解。结论从遗传学起源上分类,FRM常为BiCHM,具有较高的恶变率及转移率。通过基因分析可确定葡萄胎的遗传学起源,对评估预后有重要意义。

英文摘要:

Objective To probe the clinical characteristics and genetic origin of familial recurrent mole (FRM). Methods Two cases of FRM were reported retrospectively. MicrosateUite polymorphism was used to determine the genetic origin of the two FRM and other six sporadic moles from other independent families. Results The two FRM patients came from two independent families. Both of them had more than two times of hydatidiform moles and the same condition had happened to their sisters. The last mole from each of these two patients was identified as biparental complete hydatidiform mole (BiCHM). Among the six sporadic moles, one was partial hydatidiform mole (PHM), which was identified as triploid with one haploid maternal set of chromosomes and two haploid paternal sets of chromosomes. The other five sporadic moles were all androgenetic complete hydatidiform mole (AnCHM), which lacked maternal genetic material. The two women with FRM developed into persistent trophoblastic disease (PTD) and gained complete remission (CR) after medical therapy and/or pulmonary lobectomy. Condusions FRM is exceedingly rare. Most of them are biparental in origin. It ought to be an important step to identify the genetic origin in evaluating the outcomes of the women with recurrent hydatidiform moles.

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