Jiang X, Morland S J, Hitchcock A, Thomas E J, Campbell I G
Obstetrics and Gynecology, University of Southampton, Princess Anne Hospital, United Kingdom.
Cancer Res. 1998 Apr 15;58(8):1707-12.
Endometriosis is a common gynecological disease in which tissue similar to the endometrium proliferates at sites outside the uterine cavity. Malignant transformation of endometriosis to endometrioid and clear cell ovarian carcinomas has been documented in histological studies, but no molecular genetic evidence exists to support that endometriosis is the clonal precursor of such malignancies. We examined 14 cases of endometriosis synchronous with ovarian cancer for loss of heterozygosity on 12 chromosome arms, X chromosome inactivation, and TP53 mutation to determine whether they shared genetic alterations. In all four of the cases where the carcinoma had arisen within endometriosis and in five of the seven cases where the carcinoma was adjacent to the endometriosis, common genetic lesions were detected, consistent with a common lineage. A TP53 mutation was also detected in one case of endometriosis adjacent to carcinoma. These findings support the numerous histological observations that endometrioid and clear cell ovarian carcinomas may arise through malignant transformation of endometriotic lesions.
子宫内膜异位症是一种常见的妇科疾病，其中类似于子宫内膜的组织在子宫腔外的部位增殖。组织学研究已记录了子宫内膜异位症向子宫内膜样癌和透明细胞卵巢癌的恶性转化，但尚无分子遗传学证据支持子宫内膜异位症是此类恶性肿瘤的克隆前体。我们检查了14例与卵巢癌同步发生的子宫内膜异位症病例，以检测12条染色体臂上的杂合性缺失、X染色体失活和TP53突变，以确定它们是否共享遗传改变。在癌起源于子宫内膜异位症的所有4例病例以及癌与子宫内膜异位症相邻的7例病例中的5例中，检测到了共同的遗传病变，这与共同的谱系一致。在1例与癌相邻的子宫内膜异位症病例中也检测到了TP53突变。这些发现支持了大量组织学观察结果，即子宫内膜样癌和透明细胞卵巢癌可能通过子宫内膜异位病变的恶性转化而发生。
