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腹膜后脂肪肉瘤基因组学研究综述。

A review of retroperitoneal liposarcoma genomics.

机构信息

Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, College of Medical and Dental Science, University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom.

Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Edgbaston, Birmingham B15 2TH, United Kingdom.

出版信息

Cancer Treat Rev. 2020 Jun;86:102013. doi: 10.1016/j.ctrv.2020.102013. Epub 2020 Mar 28.

Abstract

Retroperitoneal liposarcomas are rare tumours that carry a poorer prognosis than their extremity counterparts. Within their subtypes - well differentiated (WDL), dedifferentiated (DDL), myxoid (MLS) and pleomorphic (PLS) - they exhibit a diverse genomic landscape. With recent advances in next generation sequencing, the number of studies exploring this have greatly increased. The recent literature has deepened our understanding of the hallmark MDM2/CDK4 amplification in WDL/DDL and addressed concerns about toxicity and resistance when targeting this. The FUS-DDIT3 fusion gene remains the primary focus of interest in MLS with additional potential targets described. Whole genome sequencing has driven identification of novel genes and pathways implicated in WDL/DDL outside of the classic 12q13-15 amplicon. Due to their rarity; anatomical location and histologic subtype are infrequently mentioned when reporting the results of these studies. Reports can include non-adipogenic or extremity tumours, making it difficult to draw specific retroperitoneal conclusions. This narrative review aims to provide a summary of retroperitoneal liposarcoma genomics and the implications for therapeutic targeting.

摘要

腹膜后脂肪肉瘤是一种罕见的肿瘤,其预后比肢体脂肪肉瘤差。在其亚型中——高分化(WDL)、去分化(DDL)、黏液样(MLS)和多形性(PLS)——它们表现出不同的基因组景观。随着下一代测序技术的进步,探索这一领域的研究数量大大增加。最近的文献加深了我们对 WDL/DDL 中 MDM2/CDK4 扩增的认识,并解决了靶向治疗时的毒性和耐药性问题。FUS-DDIT3 融合基因仍然是 MLS 的主要关注点,同时还描述了其他潜在的靶点。全基因组测序推动了对 WDL/DDL 中非经典 12q13-15 扩增子相关的新基因和途径的鉴定。由于其罕见性,在报告这些研究结果时,腹膜后脂肪肉瘤的解剖位置和组织学亚型很少提及。报告可能包括非脂肪源性或肢体肿瘤,因此很难得出特定的腹膜后结论。本综述旨在总结腹膜后脂肪肉瘤的基因组学及其对治疗靶向的影响。

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