Loke Benjamin Nathanael, Lee Victor Kwan Min, Sudhanshi Jain, Wong Meng Kang, Kuick Chik Hong, Puhaindran Mark, Chang Kenneth Tou En
Department of Biological Sciences, National University of Singapore, Singapore, Singapore.
Department of Pathology, National University Health System, Singapore, Singapore.
J Clin Pathol. 2017 Aug;70(8):697-701. doi: 10.1136/jclinpath-2016-204247. Epub 2017 Jan 30.
We describe the clinical and pathological features and novel genetic findings of a case of sarcoma occurring in the thigh of a 35-year-old man.
Fusion gene detection using a next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) was used to identify the novel fusion breakpoints of this sarcoma using formalin-fixed and paraffin-embedded tumour material.
This sarcoma has a novel fusion breakpoint between exon 20 of the gene and exon 1 of the gene.
This case report describes an additional case of sarcoma with a novel fusion breakpoint, and demonstrates the value of this next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) in both diagnosis for patient care and in identification of a novel fusion breakpoint in this tumour type.
我们描述了一名35岁男性大腿部发生的肉瘤病例的临床和病理特征以及新的基因发现。
使用基于下一代测序的锚定多重PCR技术（Archer FusionPlex肉瘤检测板），对福尔马林固定石蜡包埋的肿瘤组织进行融合基因检测，以鉴定该肉瘤的新融合断点。
该肉瘤在基因的第20外显子和基因的第1外显子之间有一个新的融合断点。
本病例报告描述了另一例具有新融合断点的肉瘤病例，并证明了这种基于下一代测序的锚定多重PCR技术（Archer FusionPlex肉瘤检测板）在患者护理诊断以及鉴定该肿瘤类型新融合断点方面的价值。
