University Institute of Pathology, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Rue du Bugnon 25, Lausanne, Switzerland.
Virchows Arch. 2010 Feb;456(2):201-17. doi: 10.1007/s00428-009-0853-4.
Soft tissue sarcomas (STS) with complex genomic profiles (50% of all STS) are predominantly composed of spindle cell/pleomorphic sarcomas, including leiomyosarcoma, myxofibrosarcoma, pleomorphic liposarcoma, pleomorphic rhabdomyosarcoma, malignant peripheral nerve sheath tumor, angiosarcoma, extraskeletal osteosarcoma, and spindle cell/pleomorphic unclassified sarcoma (previously called spindle cell/pleomorphic malignant fibrous histiocytoma). These neoplasms show, characteristically, gains and losses of numerous chromosomes or chromosome regions, as well as amplifications. Many of them share recurrent aberrations (e.g., gain of 5p13-p15) that seem to play a significant role in tumor progression and/or metastatic dissemination. In this paper, we review the cytogenetic, molecular genetic, and clinicopathologic characteristics of the most common STS displaying complex genomic profiles. Features of diagnostic or prognostic relevance will be discussed when needed.
软组织肉瘤（STS）具有复杂的基因组特征（占所有 STS 的 50%），主要由梭形细胞/多形性肉瘤组成，包括平滑肌肉瘤、黏液纤维肉瘤、多形性脂肪肉瘤、多形性横纹肌肉瘤、恶性外周神经鞘瘤、血管肉瘤、骨外骨肉瘤和梭形细胞/多形性未分类肉瘤（以前称为梭形细胞/多形性恶性纤维组织细胞瘤）。这些肿瘤通常表现为许多染色体或染色体区域的获得和丢失，以及扩增。其中许多肿瘤具有反复出现的异常（例如 5p13-p15 获得），这些异常似乎在肿瘤进展和/或转移扩散中起着重要作用。本文综述了最常见的具有复杂基因组特征的 STS 的细胞遗传学、分子遗传学和临床病理学特征。在需要时，将讨论具有诊断或预后相关性的特征。
