Sarcoma, NOS

This study introduces an innovative and cost-effective method for detecting gene fusions in bone and soft tissue tumors, particularly sarcomas. The protocol integrates a custom capture panel with Nanopore sequencing and TEQUILA-based probe synthesis. Validated on 24 samples, including FFPE tissues, it demonstrated reliable fusion detection and gene expression quantification concordant with short-read sequencing. This approach promises to enhance the accessibility of molecular diagnostics for rare cancers due to its flexibility and reduced cost.

This study established a biobank of 29 patient-derived sarcoma cell cultures from 19 patients, encompassing 11 sarcoma subtypes. The primary goal was to create preclinical models that accurately preserve tumor biology to enhance the understanding of disease heterogeneity and identify novel therapeutic vulnerabilities. Comprehensive multi-omic profiling (genomic, transcriptomic, proteomic) and functional drug screens were performed. The findings highlighted significant inter- and intra-subtype heterogeneity and recurrent alterations, underscoring the value of functional models for translational sarcoma research.

This study investigated oncogenic fusions in 11 unclassified pulmonary spindle cell tumors, aggressive neoplasms with limited treatment options. Using anchored multiplex PCR-based targeted RNA sequencing, researchers identified ALK gene fusions in two patients (18.2%), specifically PPFIBP1::ALK and SYCL3::ALK. Both tumors also exhibited positive ALK immunohistochemical staining, despite showing morphological heterogeneity. These findings expand the molecular spectrum of these rare tumors and highlight the importance of detecting ALK fusions, including those with uncommon partners.