title: Primary spinal intradural mesenchymal chondrosarcoma with detection of fusion gene HEY1-NCOA2: A paediatric case report and review of the literature.
abstract: Mesenchymal chondrosarcoma is an extremely rare malignant tumour that most commonly originates in the bone, but is also present in extraskeletal sites. The tumour is morphologically characterized by a biphasic pattern of small round cells and islands of cartilage. Spinal mesenchymal chondrosarcomas are even rarer and, therefore, few investigations exist regarding the biological behaviour of the tumours. In the present study, we report a case of a 10-year-old female presenting with 9 months of back pain and radiographic findings of an intradural lesion measuring 1.5 cm at the level of Th4. The tumour was completely excised and subjected to pathological analyses. Following detection of the HEY1-NCOA2 fusion gene, the tumour was morphologically and immunohistochemically defined as an intradural mesenchymal chondrosarcoma attached to the dura mater. In this study, we validate the recent identification of the fusion gene HEY1-NCOA2 in paediatric extraskeletal mesenchymal chondrosarcomas. The relevant literature is reviewed and further discussed in relation to our findings.
authors.affiliation: Department of Clinical Pathology and Cytology, Sahlgrenska University Hospital, Gothenburg SE-413 45, Sweden.
authors.forename: Carola
authors.initials: C
authors.lastname: Andersson
authors.affiliation: Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg SE-416 85, Sweden.
authors.forename: Gustaf
authors.initials: G
authors.lastname: Osterlundh
authors.affiliation: Department of Clinical Pathology and Cytology, Sahlgrenska University Hospital, Gothenburg SE-413 45, Sweden.
authors.forename: Fredrik
authors.initials: F
authors.lastname: Enlund
authors.affiliation: Department of Musculoskeletal Pathology, Royal Orthopedic Hospital, NHS Foundation Trust, Birmingham B31 2AP, UK.
authors.forename: Lars-Gunnar
authors.initials: LG
authors.lastname: Kindblom
authors.affiliation: Department of Clinical Pathology and Cytology, Sahlgrenska University Hospital, Gothenburg SE-413 45, Sweden ; Department of Medical Biosciences, Section for Pathology, Umeå University, SE-901 85 Umeå, Sweden.
authors.forename: Magnus
authors.initials: M
authors.lastname: Hansson
keywords: HEY1-NCOA2; bone tumour; chondrosarcoma; fusion gene; intradural; sarcoma