TEST:

TruSight RNA Pan-Cancer Panel

Targeted RNA panel testing enabled robust detection of clinically relevant fusions and provided expression-based insights into tumor classification. When integrated with histopathology, this approach improved diagnostic accuracy in rare tumors and offered a practical triage strategy for extended genomic analysis, highlighting its clinical utility in pathology practice.

P3, N=222, Recruiting, National Cancer Institute (NCI) | Not yet recruiting --> Recruiting | N=680 --> 222

In spite of the adjuvant chemotherapy regimens, the patient died of disseminated metastatic disease 2 years after the diagnosis. Our patient presentation and the previous reports in the literature highlight the frequently aggressive behavior of glomus tumors arising in the esophagus.

P3; Initiation date: Jul 2024 --> Feb 2025

P3; Recruiting --> Active, not recruiting

Our systematic alternative splicing analysis uncovered several subtype-specific splicing events and identifiednovel splice variants associated with pediatric ALL. A novel exon skipping alternative splicing event of the FLT3gene enabled us to provide the first validated evidence of FLT3 overexpression in iAMP21-positive B-ALL. Thisfinding may provide a rationale for using FLT3 overexpression as a novel biomarker and for applying FLT3inhibitors or FLT3 specific CAR T-cells in the clinical management of respective patients with high-risk iAMP21-positive B-ALL.

P3; Initiation date: Apr 2024 --> Jul 2024

Nine patients received targeted therapy; dabrafenib/trametinib (6), pembrolizumab (2), and entrectinib (1), mostly upon tumor progression (7). Outsourcing of NGS testing was feasible; however, criteria for case selection are needed. In addition, local capacity-building in conducting the test, interpretation of the results, and access to "new drugs" continue to be a challenge in LMICs.

P3; Initiation date: Jan 2024 --> Apr 2024

TERT fusions were not identified in this series of LCTs, with 2 aggressive metastasizing LCTs harboring non-recurrent NAV3::ASB8 and RAB3IP::TAFA2. These structural variants have not been reported previously and likely represent events secondary to genomic instability without a clear pathogenic role (PMID: 34103665). Whole transcriptome analysis is under way to elucidate additional genomic alterations present in aggressive LCTs.

The results of the present study suggest that gene fusions likely play a minor role in the oncogenesis of JxGCTs. Whether non-recurrent fusions such as TFG::GPR128 identified herein represent driver events or not remains an open question. In challenging cases, assessment with RNA sequencing panels may be helpful to exclude fusion-driven neoplasms that demonstrate significant morphologic overlap.

"EWSR1/FUS::TFCP2-rearranged SS-RMS is a rare rhabdomyosarcoma subtype, affecting predominantly young adults with average age at presentation 34 years (median 29.5 years; age range 7-86 years), with a predilection for craniofacial bones, rapid clinical course with frequent bone and lung metastases, and poor prognosis (3-year overall survival rate 28%)."