HRD

Small ccRCC with thrombus harbors distinct molecular pathological features. The proposed pathology-driven panels, compatible with FFPE tissue, represent pathology-compatible genomic tools that may support modern precision pathology by improving molecular risk stratification and informing exploratory therapeutic biomarker assessment.

P2, N=28, Completed, Xijing Hospital | Recruiting --> Completed | Trial completion date: Dec 2026 --> Mar 2026 | Trial primary completion date: Nov 2026 --> Feb 2026

Functional NTRK fusion-positive tumors comprise biologically and clinically distinct subsets defined by tumor type and MSI/TMB context. Concurrent reporting of MSI/TMB (and HRD/EBV when available) together with NTRK fusion status may facilitate integrated clinical interpretation, support precision treatment selection, and refine trial stratification in clinical practice.

High MKI67 expression identifies highly proliferative tumors that are associated with genomic instability and immune activity and is associated with higher pCR rates following neoadjuvant chemotherapy in ER+/HER2- BC.

Collectively, these findings demonstrate the value of deep interrogation of scores and signatures in characterizing the biological processes and clinical implications underlying CN-based GI. The publicly available web portal (https://cnavisualizer.pittlabgenomics.com/home) will facilitate similar analyses across pan-cancer genomes.

The patient was treated with four cycles of paclitaxel and carboplatin, followed by an additional four cycles of combination chemotherapy with durvalumab...Maintenance therapy with durvalumab and olaparib was initiated, and the patient has remained progression-free for 10 months...The case highlights the value of genomic profiling and germline testing for personalized treatment strategies. The successful use of platinum-based chemotherapy, immune checkpoint blockade and poly (ADP-ribose) polymerase inhibition to treat this HRD-positive, mismatch repair-proficient tumor demonstrates the potential of biomarker-driven therapy for UCS.

The HRD and mutational status results for all cases were reported to clinicians from participant laboratories in less than 21 working days using the SOPHiA Genetics DDM HRD assay. This study shows that a decentralized HRD test, such as the SOPHiA Genetics DDM HRD Solution assay, is a reliable and robust assay to provide therapeutic guidance for ovarian cancer patient management in clinical practice, with optimal performance in terms of an informative proportion of cases, positive HRD detection, and an adequate turnaround time.

The results suggest that ovarian cancer patients who underwent multivisceral resection performed by the independent gynecologic oncologist team are safe and feasible. Our team will continue to follow up to obtain more comprehensive survival data to validate this finding.

In contrast, a patient with loss of BAP1 was linked to a CD8+ T-cell enriched tumor microenvironment, classified as spatially immune enriched and responded long-term to subsequent immune checkpoint inhibition and tyrosine kinase inhibition therapy. These observations provide a rationale for integrated genomic and spatial immune profiling in BTC, which will require further prospective validation.

The mutational patterns affecting homologous recombination repair differ across gynecologic and breast cancers. Further research into cancer-specific HRD mechanisms is warranted.

Tumor sequencing of 42 high-priority variants identified 11 (26.2%) with wild-type allele loss and high homologous recombination deficiency. Functional CRISPR/Cas9 knock-in assays in MCF10A cells confirmed that two deep intronic variants created aberrant splice sites, disrupted splicing and impacted transcript expression.

ADCs are leading current clinical advances. Future priorities include biomarker-driven trial designs, strategic treatment sequencing, and innovative combination strategies to maximize therapeutic benefit while minimizing toxicity.