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Identification of potential mutations and genomic alterations in the epithelial and spindle cell components of biphasic synovial sarcomas using a human exome SNP chip

机译:使用人类外显子组SNP芯片鉴定双相滑膜肉瘤的上皮和梭形细胞成分中潜在的突变和基因组改变

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摘要

BackgroundSynovial sarcoma (SS) is one of the most aggressive soft-tissue sarcomas and is noted for late local recurrence and metastasis. It is of uncertain histological origin and exhibits a biphasic histopathological form involving both the mesenchyme and epithelium. Thus, its diagnosis and therapy remain a huge challenge for clinicians and pathologists. This study aimed to determine whether differential morphological-associated genomic changes could aid in ascertaining the histogenesis of SS and to determine whether these sarcomas showed some specific mutated genes between epithelial and spindle cells that would promote tumor invasion and metastasis.
机译:背景肉瘤(SS)是最具侵略性的软组织肉瘤之一,因晚期局部复发和转移而闻名。它具有不确定的组织学起源,并且表现出涉及间充质和上皮的双相组织病理学形式。因此,其诊断和治疗对于临床医生和病理学家仍然是巨大的挑战。这项研究旨在确定差异性的形态学相关基因组变化是否可以帮助确定SS的组织发生,并确定这些肉瘤是否在上皮细胞和纺锤体细胞之间显示出某些特定的突变基因,从而促进肿瘤的侵袭和转移。

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