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Novel exon–exon breakpoint in CIC-DUX4 fusion sarcoma identified by anchored multiplex PCR (Archer FusionPlex Sarcoma Panel)
  1. Benjamin Nathanael Loke1,
  2. Victor Kwan Min Lee2,3,
  3. Jain Sudhanshi4,
  4. Meng Kang Wong5,
  5. Chik Hong Kuick4,
  6. Mark Puhaindran3,6,
  7. Kenneth Tou En Chang4,5,7
  1. 1Department of Biological Sciences, National University of Singapore, Singapore, Singapore
  2. 2Department of Pathology, National University Health System, Singapore, Singapore
  3. 3Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  4. 4Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore
  5. 5VIVA-KKH Paediatric Brain and Solid Tumour Programme, KK Women's and Children's Hospital, Singapore, Singapore
  6. 6Department of Hand and Reconstructive Microsurgery, National University Health System, Singapore, Singapore
  7. 7Duke-NUS Medical School, Singapore, Singapore
  1. Correspondence to Dr Kenneth T E Chang, MBChB FRCPath,
    Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital. 100 Bukit Timah Road, Singapore 229899, Singapore; kenneth.chang.t.e{at}singhealth.com.sg

Abstract

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.

  • SARCOMAS
  • CANCER
  • MOLECULAR PATHOLOGY

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Footnotes

  • Handling editor Runjan Chetty

  • Contributors BNL coordinated data collection and analysis, and wrote the article. VKML provided the gross photograph of the resected tumour, the result of the MRI scan as well as FFPE blocks and tissue slides of the tumour. JS and CHK analysed the genetic material of the tumour using the Archer FusionPlex Sarcoma Panel. MKW confirmed the results using RT-PCR and Sanger sequencing. MP was the surgeon who cared for the patient and resected the tumour. KTEC performed the histopathological examination, edited the manuscript and is the guarantor of this study.

  • Funding VIVA-KKH Paediatric Brain and Solid Tumour Programme.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval Institutional ethical approval for this study was obtained from the SingHealth Centralised Institutional Review Board.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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