NTRK fusion

This observation highlights the potential clinical benefit of repeating NGS even in late stages of breast cancer treatment. Furthermore, NGS may expand our ability to utilize targeted agents in not only early phase but also later phase breast cancer treatment.

P1/2, N=358, Recruiting, Xilio Development, Inc. | Trial completion date: Feb 2027 --> Sep 2028 | Trial primary completion date: Feb 2027 --> Sep 2028

For cases lacking these specific markers, VEGFR-targeted multikinase inhibitors (e.g., lenvatinib) remains the standard of care for RAIR-DTC...The therapeutic paradigm in thyroid cancer is shifting from non-selective multikinase inhibition toward molecularly matched, combination-based, and adaptively sequenced strategies. Early and comprehensive genomic profiling-including fusion detection-is essential to optimize treatment selection, address resistance, and expand precision therapy options across disease subtypes.

The false-positive rate was 13.3% in acinic cell carcinoma, histologically similar to secretory carcinoma. Luigi-Oral might be a useful alternative to IHC for screening NTRK fusion-positive rare SGC cases, and advances in digital pathology can facilitate implementation of an AI model in the NTRK screening workflow.

Most "Invalid" results were attributable to RNA degradation and resolved with freshly cut sections. These findings support the Idylla GeneFusion Assay as a rapid and practical frontline tool for NTRK fusion detection, particularly in settings with limited tissue or need for expedited decision-making, with reflex next-generation sequencing recommended for "Equivocal" cases or when fusion partner identification is required.

RET fusions and genetic alteration combination are independent prognostic markers for tumor recurrence of PTC, integrating tumors' genetic status into the 2025 ATA RSS system improves the accuracy of risk stratification for PTC.

P2, N=152, Not yet recruiting, The Third Xiangya Hospital of Central South University

The approach emphasizes (i) selecting a thyroid-appropriate molecular assay from the outset whenever feasible, (ii) explicitly documenting residual suspicion and the scope of the performed assay in pathology reports, (iii) using pan-TRK immunohistochemistry only as an optional triage tool rather than a rule-out test, and (iv) considering RNA-based or other fusion-optimized assays only when the original clinical question remains unresolved and the result is clinically relevant. This framework is intended to reduce false reassurance from negative limited panels while reinforcing the need for appropriate molecular testing in the correct clinical scenario.

Across both diseases, circulating tumor DNA is emerging as a promising tool for prognostication, minimal residual disease assessment, response monitoring, and early resistance detection. Contemporary care increasingly depends on early molecular profiling, individualized treatment sequencing, and integration of targeted therapies, biomarker-guided immunotherapy, and clinical trials.

In this cohort, the DNA+RNA-based panel showed a higher detection rate for TK fusions, although the panels were applied to different patient groups and the sensitivity and specificity could not be determined. Future studies evaluating different test types on the same tumor specimens are warranted to clarify whether the dual-sequencing approaches can improve the identification of actionable genetic events.

P1, N=14, Not yet recruiting, Jecho Biopharmaceuticals Co., Ltd.

FISH may represent a useful intermediate diagnostic tool when NGS is unavailable but requires cautious interpretation particularly in cases with atypical or isolated signals. NGS-based molecular confirmation remains essential for the definitive identification of NTRK fusions.