Primary paediatric epidural sarcomas: molecular exploration of three cases

BMC Cancer
Sharon Y Y LowDavid C Y Low

Abstract

Primary paediatric epidural sarcomas are extremely rare. Overall, there remains a paucity of knowledge in paediatric epidural sarcomas owing to the infrequent number of cases. The Archer FusionPlex Sarcoma Kit (ArcherDX, Inc) is a next-generation sequencing assay that has been reported to be a useful technique to detect recurrent fusion in sarcomas. We report the molecular exploration of 3 primary paediatric epidural sarcomas-one in the cranium (mesenchymal chondrosarcoma) and 2 in the spine (mesenchymal chondrosarcoma and Ewing sarcoma respectively). This is a study approved by the hospital ethics board. Clinico-pathological information from 3 consenting patients with primary epidural sarcomas was collected. These selected tumours are interrogated via Archer FusionPlex Sarcoma Kit (ArcherDX, Inc) for genomic aberrations. Results were validated with RT-PCR and Sanger sequencing. All findings are corroborated and discussed in concordance with current literature. Our findings show 2 variants of the HEY1-NCOA2 gene fusion: HEY1 (exon 4)-NCOA2 (exon 13) and HEY1 (exon 4)-NCOA2 (exon 14), in both mesenchymal chondrosarcoma patients. Next, the Ewing sarcoma tumour is found to have EWSR1 (exon 10)-FLI1 (exon 8) translocation based on ...Continue Reading

References

May 1, 1978·Journal of Neurosurgery·D K Zucker, D S Horoupian
Jun 1, 1989·Surgical Neurology·N Di LorenzoL Palma
Mar 16, 2007·Nature Reviews. Cancer·Felix MitelmanFredrik Mertens
Jul 27, 2007·The Journal of Molecular Diagnostics : JMD·Frederic G Barr, Richard B Womer
Jan 19, 2008·The Spine Journal : Official Journal of the North American Spine Society·Seref DoganHarold L Rekate
Mar 20, 2010·Clinical Orthopaedics and Related Research·Aristidis H ZibisLee S Segal
Mar 24, 2010·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·John A van DoorninckElizabeth R Lawlor
Mar 24, 2010·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Marie-Cecile Le DeleyHeinrich Kovar
May 28, 2011·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Lisa LinThomas Ng
Mar 16, 2012·EMBO Molecular Medicine·Wen LuoStephen L Lessnick
Jul 28, 2012·Journal of Pediatric Neurosciences·C V GopalakrishnanSuresh Nair
Jan 19, 2013·Medical Oncology·Monica CantileGerardo Botti
Oct 15, 2013·American Journal of Clinical Pathology·Karen J FritchieBrian P Rubin
Oct 31, 2014·Histopathology·Cheng-Han Lee, Marisa R Nucci
May 23, 2015·Nature Reviews. Cancer·Fredrik MertensFelix Mitelman
Mar 23, 2017·Molecular Therapy. Nucleic Acids·Célia DupainLiliane Massaad-Massade
Aug 18, 2017·Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology·Kinga SzurianBernadette Liegl-Atzwanger
Nov 7, 2017·The Journal of Molecular Diagnostics : JMD·Kenneth T E ChangTony L Ng
Nov 17, 2017·Current Treatment Options in Oncology·Xiaomin NiuHeather A Wakelee
Feb 11, 2018·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Yingting MokKenneth Tou-En Chang

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Methods Mentioned

BETA
Assay
PCR

Software Mentioned

Archer FusionPlex
Archer Data Analysis
ArcherDX

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