Malignant vascular tumors-an update
Malignant vascular tumors-an update
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DOI：
10.1038/modpathol.2013.176
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发表时间：
2014-01-01
期刊：
影响因子：
7.5
通讯作者：
Antonescu, Cristina
中科院分区：
文献类型：
--
作者：
Antonescu, Cristina
虽然良性血管瘤是结缔组织肿瘤中最常见的诊断之一，但显示内皮分化的肉瘤（即血管肉瘤和上皮样血管内皮瘤）占所有肉瘤诊断的不到1%，因此在美国，每年可能只有不到500人受到影响。恶性血管肿瘤的鉴别诊断通常是相当具有挑战性的，无论是在光谱的低端，区分上皮样血管内皮瘤和上皮样血管瘤，还是在光谱的高端，区分血管肉瘤和恶性上皮样血管内皮瘤。在这种鉴别诊断中，临床放射学特征（即大小和多灶性）和免疫组织化学标志物（即内皮标志物的表达）通常相似，无法区分良性和恶性血管病变。长期以来，对于恶性血管肿瘤，特别是上皮样表型的肿瘤，需要更客观的诊断和分类。由于最近在了解血管肿瘤的遗传特征方面取得了重大进展，本综述将借此机会提供这些发现的详细更新。具体而言，本文将重点关注以下几个方面：(1)上皮样血管内皮瘤的病理和分子特征，包括更常见的WWTR1-CAMTA1融合，以及最近报道的在上皮样血管内皮瘤形态学变异中发现的YAP1-TFE3融合；(2)探讨血管肉瘤临床、形态学和遗传谱的异质性，特别强调MYC和FLT4基因在辐射诱导血管肉瘤中的扩增；(3)为上皮样血管肿瘤的分子检测鉴别诊断提供实用指导。
Although benign hemangiomas are among the most common diagnoses amid connective tissue tumors, sarcomas showing endothelial differentiation (ie, angiosarcoma and epithelioid hemangioendothelioma) represent under 1% of all sarcoma diagnoses, and thus it is likely that fewer than 500 people in the United States are affected each year. Differential diagnosis of malignant vascular tumors can be often quite challenging, either at the low end of the spectrum, distinguishing an epithelioid hemangioendothelioma from an epithelioid hemangioma, or at the high-grade end of the spectrum, between an angiosarcoma and a malignant epithelioid hemangioendothelioma. Within this differential diagnosis both clinico-radiological features (ie, size and multifocality) and immunohistochemical markers (ie, expression of endothelial markers) are often similar and cannot distinguish between benign and malignant vascular lesions. Molecular ancillary tests have long been needed for a more objective diagnosis and classification of malignant vascular tumors, particularly within the epithelioid phenotype. As significant advances have been recently made in understanding the genetic signatures of vascular tumors, this review will take the opportunity to provide a detailed update on these findings. Specifically, this article will focus on the following aspects: (1) pathological and molecular features of epithelioid hemangioendothelioma, including the more common WWTR1-CAMTA1 fusion, as well as the recently described YAP1-TFE3 fusion, identified in a morphological variant of epithelioid hemangioendothelioma; (2) discuss the heterogeneity of angiosarcoma clinical, morphological and genetic spectrum, with particular emphasis of MYC and FLT4 gene amplification in radiation-induced angiosarcoma; and (3) provide a practical guide in the differential diagnosis of epithelioid vascular tumors using molecular testing.