The histological pattern of the two positive cases, together with the demonstration of the NTRK rearrangement, leaded to re-classify these previously not otherwise specified sarcomas with uncertain differentiation into the emerging category of NTRK-rearranged neoplasms. Molecular analysis using NGS and confirmed by the real-rime PCR detected two positive cases for the ETV6-NTRK3 fusion. On immunohistochemical screening, 12/105 (11.4%) cases were positive using the pan-Trk antibody, showing three different staining patterns with the cytoplasmic distribution being most common. The NGS-positive cases were further confirmed by real-time PCR. Tumour RNA was extracted from FFPE tissue and subjected to next-generation sequencing (NGS) library preparation, using a 10-gene NGS fusion panel, sequenced on an Illumina MiSeq. After the case selection and the histopathological review of the case cohort, pan-Trk immunohistochemistry (IHC) testing was performed on formalin-fixed paraffin-embedded (FFPE) tissues. One-hundred and five patients with diagnosis of URCS or TUD, involving the bone or soft tissue, were retrospectively evaluated. The aim of our study was to investigate the presence of NTRK gene fusions in a large retrospective cohort of paediatric URCS and TUD after a systematic review of the diagnosis, according to the recently updated WHO classification scheme. However, more recently NTRK-rearranged round and spindle cell tumours have been noted in case reports and in limited or heterogeneous cohorts. Undifferentiated round cell sarcomas (URCS) of soft tissue and bone and tumours of uncertain differentiation (TUD) are commonly ascribed to a subset of neoplasms with low frequency of NTRK gene fusions. 7Medical Oncology, Department of Health Sciences, University of Florence, Florence, Italy.6Pathology Unit, Meyer Children’s Hospital, University of Florence, Florence, Italy.5Clinical Pharmacology and Oncology Unit, Department of Health Sciences, University of Florence, Florence, Italy. ![]() 4Department of Paediatric Orthopaedic Oncology, Meyer Children’s Hospital, Florence, Italy.3Department of Orthopaedic Oncology and Reconstructive Surgery, Careggi University Hospital, Florence, Italy.Anderson Cancer Center, Houston, TX, United States 2Departments of Pathology and Genomic Medicine, The University of Texas M.D.1Section of Anatomic Pathology, Department of Health Sciences, University of Florence, Florence, Italy.Lazar 2, Francesca Castiglione 1, Domenico Andrea Campanacci 3, Giovanni Beltrami 4, Francesco De Logu 5, Chiara Caporalini 6, Daniela Massi 1 and Giandomenico Roviello 7
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