High risk for neoplastic transformation of endometriosis in a carrier of lynch syndrome
High risk for neoplastic transformation of endometriosis in a carrier of lynch syndrome
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DOI：
10.1007/s10689-010-9321-1
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发表时间：
2010-09-01
期刊：
影响因子：
2.2
通讯作者：
Dahan, Karin
中科院分区：
文献类型：
--
作者：
Nyiraneza, Christine;Marbaix, Etienne;Dahan, Karin
林奇综合征是一种常染色体显性遗传癌症易感性疾病，由DNA错配修复基因突变引起。患有林奇综合征的女性一生中患子宫内膜癌和卵巢癌的风险增加。虽然有证据表明预防性手术是有效的，但还没有标准的建议来支持高危妇女筛查癌前子宫内膜和卵巢上皮病变。在这里，我们报告一例健康女性携带MLH1基因胚系突变，伴有子宫内膜上皮内瘤变和卵巢子宫内膜异位症病变，显示MLH1蛋白表达缺失。这份病例报告说明了子宫内膜异位症的恶性潜能，并强调了在降低相关林奇综合征妇女的癌症风险方面，需要对妇科癌前病变进行细致的处理。
Lynch syndrome is an autosomal dominant cancer-susceptibility disorder caused by mutations in DNA mismatch repair genes. Women with Lynch syndrome have an increased lifetime risk for endometrial and ovarian cancers. While there is evidence of efficacy for prophylactic surgery, no standard recommendations have been developed to support screening for premalignant endometrial and ovarian epithelial lesions in high-risk women. Here, we report a case of a healthy woman carrying a germline mutation in MLH1 gene with endometrial intra-epithelial neoplasia and ovarian endometriotic lesions exhibiting a loss of MLH1 protein expression. This case report illustrates the malignant potential of endometriosis, and highlights the need for a meticulous management of gynecologic premalignant precursor lesions in reducing cancer risk among related Lynch syndrome women.