Histologic, Molecular, and Cytogenetic Features of Ovarian Cancers: Implications for Diagnosis and Treatment

Histologic, Molecular, and Cytogenetic Features of Ovarian Cancers: Implications for Diagnosis and Treatment
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DOI:
10.1148/rg.313105066
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发表时间:
2011-05-01
期刊:
影响因子:
5.5
通讯作者:
Fasih, Najla
Fasih, Najla
中科院分区:
医学1区
文献类型:
--
作者:
Lalwani, Neeraj;Prasad, Srinivasa R.;Fasih, Najla

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卵巢上皮癌(OEC)是最常见的卵巢恶性肿瘤,是一种具有多种组织亚型的异质性疾病,具有独特的细胞遗传学特征、分子特征、肿瘤信号通路和临床生物学行为。组织病理学和细胞遗传学的最新进展对嗅鞘细胞的病理生理特征和自然历史有了深入的了解。一些研究表明,高或低级别浆液性癌、子宫内膜样癌和透明细胞癌的特征分别是TP53、K-ras/BRAF、CTNNB1和PIK3CA基因突变。高级别浆液性癌是最常见的亚型,通常表现为疾病早期跨卵巢扩散,而低级别浆液性和粘液性癌通常表现为早期疾病,结果是预后良好。在发病机制的基础上,最近的发现提出了一种由I型和II型组成的卵巢癌发生的二元模型。I型(低度浆液性、粘液性和子宫内膜样癌)通常起源于描述良好、遗传稳定的前驱病变(通常是交界性肿瘤);表现为大的附件肿块并伴有早期疾病;临床病程相对缓慢,总体预后良好。相比之下,II型癌(高度浆液性、子宫内膜样癌、混合性癌和未分化癌)起源于附件上皮,通常表现为染色体不稳定,具有侵袭性的生物学行为。对遗传性卵巢癌综合征和相关的细胞遗传学异常的更好的了解导致了对新的生物标记物和分子疗法的兴趣的增加。本文讨论了不同组织学亚型OEC的遗传改变、病理特征、影像表现和自然病史。(C)RSNA,2011年。Radiographics.rsna.org
Ovarian epithelial carcinoma (OEC), the most common ovarian malignancy, is a heterogeneous disease with several histologic subtypes that show characteristic cytogenetic features, molecular signatures, oncologic signaling pathways, and clinical-biologic behavior. Recent advances in histopathology and cytogenetics have provided insights into pathophysiologic features and natural history of OECs. Several studies have shown that high-or low-grade serous, endometrioid, and clear cell carcinomas are characterized by mutations involving the TP53, K-ras/BRAF, CTNNB1, and PIK3CA genes, respectively. High-grade serous carcinomas, the most common subtype, often manifest with early transcoelomic spread of disease beyond the ovaries, whereas low-grade serous and mucinous carcinomas commonly manifest with early-stage disease, with a resultant excellent prognosis. On the basis of pathogenetic mechanisms, recent findings suggest a dualistic model of ovarian carcinogenesis consisting of types I and II. Type I (low-grade serous, mucinous, and endometrioid) cancers commonly arise from well-described, genetically stable precursor lesions (usually borderline tumors); manifest as large adnexal masses with early-stage disease; and have a relatively indolent clinical course, with an overall good prognosis. In contrast, type II carcinomas (high-grade serous, endometrioid, mixed, and undifferentiated variants) originate de novo from the adnexal epithelia, often demonstrate chromosomal instability, and have aggressive biologic behavior. Better knowledge of hereditary ovarian cancer syndromes and associated cytogenetic abnormalities has led to increased interest in novel biomarkers and molecular therapeutics. Genetic changes, pathologic features, imaging findings, and natural histories of a variety of histologic subtypes of OEC are discussed in this article. (C) RSNA, 2011 . radiographics.rsna.org