Benjamin Nathanael Loke1, Victor Kwan Min Lee2,3, Jain Sudhanshi4, Meng Kang Wong5, Chik Hong Kuick4, Mark Puhaindran3,6, Kenneth Tou En Chang4,5,7. 1. Department of Biological Sciences, National University of Singapore, Singapore, Singapore. 2. Department of Pathology, National University Health System, Singapore, Singapore. 3. Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. 4. Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore. 5. VIVA-KKH Paediatric Brain and Solid Tumour Programme, KK Women's and Children's Hospital, Singapore, Singapore. 6. Department of Hand and Reconstructive Microsurgery, National University Health System, Singapore, Singapore. 7. Duke-NUS Medical School, Singapore, Singapore.
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. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
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. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
Authors: Matthew R Avenarius; Cecelia R Miller; Michael A Arnold; Selene Koo; Ryan Roberts; Martin Hobby; Thomas Grossman; Yvonne Moyer; Richard K Wilson; Elaine R Mardis; Julie M Gastier-Foster; Ruthann B Pfau Journal: J Mol Diagn Date: 2020-08-01 Impact factor: 5.568