Novel insights on the malignant transformation of endometriosis into ovarian carcinoma
Novel insights on the malignant transformation of endometriosis into ovarian carcinoma
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DOI：
10.3109/09513590.2014.926325
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发表时间：
2014-09-01
影响因子：
2
通讯作者：
Tana, Roberta
中科院分区：
文献类型：
--
作者：
Gadducci, Angiolo;Lanfredini, Nora;Tana, Roberta
子宫内膜异位症的恶变是一种罕见的事件，发生率为0.7-2.5%，发生时通常累及卵巢。据报道，患有子宫内膜异位症的女性患卵巢子宫内膜样癌和透明细胞癌的风险高出 2 至 3 倍。病理学研究发现了从正常子宫内膜异位囊肿上皮到非典型子宫内膜异位症最后到浸润性癌的连续步骤的形态连续体。卵巢子宫内膜样癌中 16-53.3% 存在 CTNNB1 突变，14-20% 存在 PTEN 突变，30-55% 存在 ARID1A 突变。卵巢透明细胞癌中 20-40% 存在 PIK3CA 突变，15-75% 存在 ARID1 突变。虽然雌激素受体和孕激素受体总是缺失，但 HNF-1b 在该组织型中常常过度表达。非典型子宫内膜异位症和子宫内膜异位症相关卵巢肿瘤共有分子改变，如 PTEN 突变、ARID1A 突变和 HNF-1b 上调。此外，在透明细胞瘤和邻近的非典型子宫内膜异位症中发现了 ARID1A 突变，但在远处的子宫内膜异位病变中却没有发现。 BAF250a 蛋白表达的丧失提示 ARID1A 突变的存在，并且是子宫内膜异位症恶性转化的有用标志。
The malignant transformation of endometriosis is an uncommon event, which happens in 0.7-2.5% of the cases, and, when occurs, it usually involves the ovary. A 2 to 3-fold higher risk of ovarian endometrioid and clear cell carcinoma has been reported in women with endometriosis. Pathological studies have detected a morphological continuum of sequential steps from normal endometriotic cyst epithelium to atypical endometriosis and finally to invasive carcinoma. Ovarian endometrioid carcinoma harbors mutations of CTNNB1 in 16-53.3%, of PTEN in 14-20% and of ARID1A in 30-55% of the cases. Ovarian clear cell carcinoma harbors mutations of PIK3CA in 20-40% and of ARID1 in 15-75% of the cases. Whereas estrogen receptors and progesterone receptors are quite always absent, HNF-1b is often over-expressed in this histotype. Atypical endometriosis and endometriosis-related ovarian neoplasms share molecular alterations, such as PTEN mutations, ARID1A mutations and up-regulation of HNF-1b. Moreover, ARID1A mutations have been noted in clear cell tumors and contiguous atypical endometriosis, but not in distant endometriotic lesions. The loss of BAF250a protein expression is suggestive for the presence of ARID1A mutations, and represents an useful marker of malignant transformation of endometriosis.