TY - JOUR T1 - Novel exon–exon breakpoint in <em>CIC-DUX4</em> fusion sarcoma identified by anchored multiplex PCR (Archer FusionPlex Sarcoma Panel) JF - Journal of Clinical Pathology JO - J Clin Pathol SP - 697 LP - 701 DO - 10.1136/jclinpath-2016-204247 VL - 70 IS - 8 AU - Benjamin Nathanael Loke AU - Victor Kwan Min Lee AU - Jain Sudhanshi AU - Meng Kang Wong AU - Chik Hong Kuick AU - Mark Puhaindran AU - Kenneth Tou En Chang Y1 - 2017/08/01 UR - http://jcp.bmj.com/content/70/8/697.abstract N2 - Aims We describe the clinical and pathological features and novel genetic findings of a case of CIC-DUX4 sarcoma occurring in the thigh of a 35-year-old man.Methods 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 CIC-DUX4 sarcoma using formalin-fixed and paraffin-embedded tumour material.Results This CIC-DUX4 sarcoma has a novel fusion breakpoint between exon 20 of the CIC gene and exon 1 of the DUX4 gene.Conclusions This case report describes an additional case of CIC-DUX4 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. ER -