Details

Autor(en) / Beteiligte

• Low, Sharon Y Y
• Kuick, Chik Hong
• Seow, Wan Yi
• Bte Syed Sulaiman, Nurfahanah
• Chen, Huiyi
• Lian, Derrick W Q
• Chang, Kenneth T E
• Tan, Enrica E K
• Soh, Shui Yen
• Tan, Grace I L
• Ng, Lee Ping
• Seow, Wan Tew
• Low, David C Y

Titel

Primary paediatric epidural sarcomas: molecular exploration of three cases

Ist Teil von

• BMC cancer, 2019-02, Vol.19 (1), p.182-182, Article 182

Ort / Verlag

England: BioMed Central Ltd

Erscheinungsjahr

2019

Link zum Volltext

Quelle

SpringerLink Journals

Beschreibungen/Notizen

• 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 NGS. This result is not detected via conventional fluorescence in situ testing. This is a molecularly-centered study based on 3 unique primary paediatric epidural sarcomas. Our findings to add to the growing body of literature for these exceptionally rare and malignant neoplasms. The authors advocate global collaborative efforts and in-depth studies for targeted therapy to benefit affected children.