TEST:

FusionPlex® Dx

The patient remains disease-free at 4 months. This case expands the molecular spectrum of ELMS and, concomitantly, broadens the emerging morphologic spectrum of RAD51B-rearranged uterine sarcomas, underscoring the diagnostic value of fusion testing in unusual uterine mesenchymal neoplasms.

In conclusion, a subset of CKD-/ESRD-associated iCCAs in Taiwan shows molecular and chemical evidence of AA exposure. However, the modest correlation between AA adducts and SBS22a signatures and the paucity of T>A transversions in driver genes suggests that AA acts as a contributory rather than causal factor, possibly synergizing with aging and liver disease-related mutagenic processes.

WTS is a reliable and informative method for fusion and splice variant detection in clinical diagnostics, provided rigorous pre-analytical and sequencing QC metrics are strictly applied.

The incorporation of gene expression analysis, with confirmation using orthogonal methods, may help improve diagnostic yield. Developing practice guidelines will help harmonise reporting content and minimise interlaboratory variations.

This Method paper outlines the AMP workflow, including troubleshooting strategies and quality control criteria, and demonstrates its applicability to clinical samples. Our findings support the utility of RNA-based fusion detection in driver-negative melanomas and the potential of fusion genes as actionable targets.

Similar to other translocation-associated sarcomas, the number of co-occurring SGAs in EMC is low; however, when present, they are associated with worse survival. Although a higher number of SGAs showed a trend to be associated with non-EWSR1 fusion variants, larger multi-institutional studies are needed to further evaluate the correlation between fusion variants with SGAs and survival.

RNA sequencing was performed using the Archer FusionPlex panel and revealed an HMGA2 fusion transcript of unknown significance. The lesion was surgically removed, and the patient had no evidence of disease 4 months after the diagnosis.

Additionally, male sex, B symptoms, and bone marrow involvement were associated with relapse. Therefore, these clinical features may be useful in predicting outcomes until an effective molecular classification is widely adopted.

This is the first report of a SPECC1L::ALK fusion in MTC. The dramatic response to alectinib highlights the importance of molecular profiling and suggests that ALK inhibitors may benefit patients with rare ALK fusions in thyroid cancers.

The Archer FusionPlex Lymphoma assay showed a somewhat lower detection rate of novel genetic subtypes compared to reports based on exome sequencing, yet identified novel genetic subtypes in over one-third of patients. However, an in-depth STRATOS statistical analysis did not confirm its predictive value for DLBCL prognosis, likely due to factors like patient selection and sample size limitations.

The genetic alterations detected in these tumors demonstrated potential diagnostic, prognostic, and therapeutic value. We suggest that incorporating in-house ancillary molecular testing could greatly enhance the accuracy of salivary gland fine needle aspiration cytology and small biopsies, thereby better guiding surgical decisions and the use of targeted therapies.

Our AFPST assay with the Ion Torrent GeneXus sequencing is clinically validated as a highly accurate, sensitive, and specific assay for detecting gene fusions in solid tumors and sarcomas. It provides clinical utility in classification and therapy selection for patients with solid tumors and sarcomas. Our validation study and institutional experience suggest the Ion torrent GeneXus System is fully compatible with the Archer FUSIONPlex assay and analysis.