title: Novel exon-exon breakpoint inCIC-DUX4fusion sarcoma identified by anchored multiplex PCR (Archer FusionPlex Sarcoma Panel).
abstract: OBJECTIVE
  We describe the clinical and pathological features and novel genetic findings of a case ofCIC-DUX4sarcoma 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 thisCIC-DUX4sarcoma using formalin-fixed and paraffin-embedded tumour material.
  
  
  RESULTS
  ThisCIC-DUX4sarcoma has a novel fusion breakpoint between exon 20 of theCICgene and exon 1 of theDUX4gene.
  
  
  CONCLUSIONS
  This case report describes an additional case ofCIC-DUX4sarcoma 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.
authors.affiliation: Department of Biological Sciences, National University of Singapore, Singapore, Singapore.
authors.forename: Benjamin Nathanael
authors.initials: BN
authors.lastname: Loke
authors.affiliation: Department of Pathology, National University Health System, Singapore, Singapore.|Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
authors.forename: Victor Kwan Min
authors.initials: VKM
authors.lastname: Lee
authors.affiliation: Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore.
authors.forename: Jain
authors.initials: J
authors.lastname: Sudhanshi
authors.affiliation: VIVA-KKH Paediatric Brain and Solid Tumour Programme, KK Women's and Children's Hospital, Singapore, Singapore.
authors.forename: Meng Kang
authors.initials: MK
authors.lastname: Wong
authors.affiliation: Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore.
authors.forename: Chik Hong
authors.initials: CH
authors.lastname: Kuick
authors.affiliation: Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.|Department of Hand and Reconstructive Microsurgery, National University Health System, Singapore, Singapore.
authors.forename: Mark
authors.initials: M
authors.lastname: Puhaindran
authors.affiliation: Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore.|VIVA-KKH Paediatric Brain and Solid Tumour Programme, KK Women's and Children's Hospital, Singapore, Singapore.|Duke-NUS Medical School, Singapore, Singapore.
authors.forename: Kenneth Tou En
authors.initials: KTE
authors.lastname: Chang
mesh_terms: D000328:Adult; D053960:DNA Breaks; D005091:Exons / Q000235:genetics*; D017809:Fatal Outcome; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009379:Neoplasms, Muscle Tissue / Q000235:genetics* / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics*; D012509:Sarcoma / Q000235:genetics* / Q000473:pathology; D013848:Thigh; D014178:Translocation, Genetic / Q000235:genetics
chemical_list: C498610:CIC protein, human; C121257:DUX4L1 protein, human; D018398:Homeodomain Proteins; D015514:Oncogene Proteins, Fusion; D012097:Repressor Proteins
keywords: CANCER; MOLECULAR PATHOLOGY; SARCOMAS