Novel exon-exon breakpoint in fusion sarcoma identified by anchored multiplex PCR (Archer FusionPlex Sarcoma Panel).

Aims: 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.

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 sarcoma using formalin-fixed and paraffin-embedded tumour material.

Results: This sarcoma has a novel fusion breakpoint between exon 20 of the gene and exon 1 of the gene.

Conclusions: 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.