Enhancing precision in sarcoma diagnosis: nCounter fusion panel implementation in a middle-income country.

ABSTRACT:

Background

Sarcoma diagnosis is challenging due to numerous subtypes with similar histopathological features and the high cost of fusion detection methods, particularly in middle-income countries.

Objectives

To implement a cost-effective custom-based nCounter approach previously validated for fusion analysis of suspected sarcoma in Brazil.

Design and methods

RNA isolated from 56 routine sarcomas, which were formalin-fixed and paraffin-embedded, was analyzed using a custom nCounter assay that detects 174 common sarcoma gene fusions. The results were compared to fluorescence in situ hybridization (FISH)/next-generation sequencing (NGS) and clinicopathological data.

Results

The nCounter assay was conclusive in 98.2% of cases, identifying 25 gene fusions with 82.5%

SUBMITTER: de Paula FE 

PROVIDER: S-EPMC11907538 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature