Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors
Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors
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DOI：
10.1016/j.ygyno.2011.02.010
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发表时间：
2011-06-01
影响因子：
4.7
通讯作者：
Nilbert, Mef
中科院分区：
文献类型：
--
作者：
Ketabi, Zohreh;Bartuma, Katarina;Nilbert, Mef
Objective.遗传是卵巢癌的主要原因，近年来，与Lynch综合征相关的生殖系错配修复（MMR）基因突变的作用逐渐被认识。我们描述了瑞典和丹麦Lynch综合征家族中所有卵巢癌的临床特征、肿瘤形态和错配修复缺陷。总的来说，63例上皮性卵巢癌的平均发病年龄为48岁（范围30-79），其中47%为早期（FIGO I期）。组织学上，类胶质瘤（35%）和透明细胞瘤（17%）的比例过高。在这些家族中，潜在的MMR基因突变影响MSH 2为49%，MSH 6为33%，MLH 1为17%。在33/36（92%）的分析肿瘤中显示了相应的MMR蛋白的免疫组化丢失。来自我们队列的综合数据表明，与Lynch综合征相关的卵巢癌通常在年轻时表现为早期非浆液性肿瘤，这意味着在此类病例中应特别考虑结直肠癌和子宫内膜癌的家族史。(C)2011 Elsevier Inc. All rights reserved.
Objective. Heredity is a major cause of ovarian cancer and during recent years the contribution from germline mismatch repair (MMR) gene mutations linked to Lynch syndrome has gradually been recognized.Methods. We characterized clinical features, tumor morphology and mismatch repair defects in all ovarian cancers identified in Swedish and Danish Lynch syndrome families.Results. In total, 63 epithelial ovarian cancers developed at mean 48 (range 30-79) years of age with 47% being early stage (FIGO stage I). Histologically, endometrioid (35%) and clear cell (17%) tumors were overrepresented. The underlying MMR gene mutations in these families affected MSH2 in 49%, MSH6 in 33% and MLH1 in 17%. Immunohistochemical loss of the corresponding MMR protein was demonstrated in 33/36 (92%) tumors analyzed.Conclusion. The combined data from our cohorts demonstrate that ovarian cancer associated with Lynch syndrome typically presents at young age as early-stage, non-serous tumors, which implicates that a family history of colorectal and endometrial cancer should be specifically considered in such cases. (C) 2011 Elsevier Inc. All rights reserved.