Abstract
This work describes the set-up of a shared platform among the laboratories of the Alleanza Contro il Cancro (ACC) Italian Research Network for the identification of fusion transcripts in sarcomas by using Next Generation Sequencing (NGS). Different NGS approaches, including anchored multiplex PCR and hybrid capture-based panels, were employed to profile a large set of sarcomas of different histotypes. The analysis confirmed the reliability of NGS RNA-based approaches in detecting sarcoma-specific rearrangements. Overall, the anchored multiplex PCR assay proved to be a fast and easy-to-analyze approach for routine diagnostics laboratories.
Highlights
The term “sarcoma” identifies a heterogeneous group of rare tumors comprising over 60 different histologic variants [1]
As a first step toward the assessment of suitability of Next Generation Sequencing (NGS)-based approaches for the detection of pathognomonic fusions in sarcomas, performance and ease-of-use of three different NGS fusion panels were evaluated on a set of sarcoma samples previously characterized by either fluorescence in situ hybridization (FISH) or reverse transcriptase-quantitative PCR (RT-qPCR) for gene fusions (Table 1)
The Anchored Multiplex PCR FusionPlex Sarcoma panel (AMP-FPS) panel targets a limited set of genes (26 target genes) that are commonly involved in sarcoma-associated fusions
Summary
The term “sarcoma” identifies a heterogeneous group of rare tumors comprising over 60 different histologic variants [1]. Due to their rarity and heterogeneity, the accuracy of sarcoma diagnosis remains challenging. The identification of histotypespecific (pathognomonic) gene alterations is of paramount importance in the differential diagnosis among sarcoma variants, between malignant and benign mimics, as well as between sarcoma and other tumor types [1,2,3]. The detection of NTRK fusions in a broad range of malignancies, including sarcomas, has gaining much attention due to the recent demonstration of therapeutic efficacy of a new class of tyrosine kinase inhibitors in NTRK rearranged tumors [7,8,9]
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
