Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome.
Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome.
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DOI：
10.1007/s10689-014-9728-1
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发表时间：
2014-12
期刊：
影响因子：
2.2
通讯作者：
Nilbert, Mef
中科院分区：
文献类型：
--
作者：
Jonsson, Jenny-Maria;Bartuma, Katarina;Dominguez-Valentin, Mev;Harbst, Katja;Ketabi, Zohreh;Malander, Susanne;Jonsson, Mats;Carneiro, Ana;Masback, Anna;Jonsson, Goran;Nilbert, Mef
与林奇综合征相关的卵巢癌是一个罕见的亚型，通常在年轻时表现为早期肿瘤，具有过度表现的子宫内膜样和透明细胞组织学特征。我们研究了林奇综合征相关性和散发性卵巢癌的分子特征，旨在确定遗传性卵巢癌的关键鉴别因素和主要致瘤机制。使用全基因组 c-DNA 介导的退火、选择、延伸和连接进行全局基因表达谱分析，应用于 48 例组织病理学匹配的林奇综合征相关和散发性卵巢癌。林奇综合征相关性和散发性卵巢癌的差异在于 349 个显着失调的基因，包括 PTPRH、BIRC3、SHH 和 TNFRSF6B。所涉及的基因主要与细胞生长、增殖以及细胞间信号传导和相互作用有关。当对组织学亚型进行分层时，层次聚类证实了子宫内膜样亚型和浆液亚型中与遗传相关的明显差异。此外，在独立的、公开的数据集中实现了单独的聚类。林奇综合征相关性和散发性卵巢癌的独特遗传特征指向替代的首选致瘤途径，并表明遗传鉴别器可能与分子诊断和靶向治疗相关。本文的在线版本 (doi:10.1007/s10689-014-9728-1) 包含补充材料，可供授权用户使用。
Ovarian cancer linked to Lynch syndrome represents a rare subset that typically presents at young age as early-stage tumors with an overrepresentation of endometrioid and clear cell histologies. We investigated the molecular profiles of Lynch syndrome-associated and sporadic ovarian cancer with the aim to identify key discriminators and central tumorigenic mechanisms in hereditary ovarian cancer. Global gene expression profiling using whole-genome c-DNA-mediated Annealing, Selection, extension, and Ligation was applied to 48 histopathologically matched Lynch syndrome-associated and sporadic ovarian cancers. Lynch syndrome-associated and sporadic ovarian cancers differed by 349 significantly deregulated genes, including PTPRH, BIRC3, SHH and TNFRSF6B. The genes involved were predominantly linked to cell growth, proliferation, and cell-to-cell signaling and interaction. When stratified for histologic subtype, hierarchical clustering confirmed distinct differences related to heredity in the endometrioid and serous subtypes. Furthermore, separate clustering was achieved in an independent, publically available data set. The distinct genetic signatures in Lynch syndrome-associated and sporadic ovarian cancers point to alternative preferred tumorigenic routes and suggest that genetic discriminators may be relevant for molecular diagnostics and targeted therapeutics. The online version of this article (doi:10.1007/s10689-014-9728-1) contains supplementary material, which is available to authorized users.
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DOI：
10.1097/pas.0b013e3181cf3d79
发表时间：
2010-03
期刊：
The American journal of surgical pathology
影响因子：
--
作者：
Kurman RJ;Shih IeM
通讯作者：
Shih IeM
影响因子：
6
作者：
Kurose, K;Zhou, XP;Eng, C
通讯作者：
Eng, C
影响因子：
4.7
作者：
Ketabi, Zohreh;Bartuma, Katarina;Nilbert, Mef
通讯作者：
Nilbert, Mef
影响因子：
11.5
作者：
Marquez, RT;Baggerly, KA;Lu, KH
通讯作者：
Lu, KH
DOI：
10.1016/s0002-9378(98)70476-4
发表时间：
1998-04-01
影响因子：
9.8
作者：
Rubin, SC;Blackwood, MA;Boyd, J
通讯作者：
Boyd, J