TEST:

OncoGuide™ NCC Oncopanel System

In contrast, the detection rates of the ALK and RET fusion genes were significantly higher in F1L. GMT, which is equipped with RNA sequencing analysis, might show a useful diagnostic ability for NTRK fusions, especially for NTRK2 fusion genes.

CGP testing appears to offer clinical benefits for patients with CRPC, regardless of age.

Actionable gene aberrations were more likely in cases of ACC, KRASWT, and F1CDx usage. The choice of CGP test should be made on a case-by-case basis, as other factors beyond actionable gene aberrations also need to be considered.

The top reasons for patients not receiving the recommended genome-matched therapy were factors related to the patient, including a number of prior treatments higher than what was allowed by the eligibility criteria of the clinical trials, and poor physical condition. Most patients received four or more regimens of cytotoxic chemotherapy before NGS. NGS is only available at the late phase of treatment in Japan, which would constitute a problem for the treatment of breast cancer.

Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.6 kb deletion located between intron 1 and intron 6 of TP53. This finding indicates that the NCC Oncopanel is suggestive for detecting large germline deletions in tumor suppressor genes.

One patient with a high tumor mutational burden (37/Mb) responded to pembrolizumab... Our findings suggest distinct molecular patterns in phyllodes tumors compared to other soft tissue sarcomas, with potential implications for treatment selection. The identification of specific genetic alterations associated with treatment resistance may guide therapeutic decision-making, while the presence of actionable mutations in select cases indicates potential opportunities for targeted therapy approaches.

Our findings suggest that HRR-related genetic abnormalities might be predictive of TTF in platinum-based chemotherapy for PC.

"Precision medicine for rare tumors still poses challenges. In this Japanese cohort, 42.2 % of high-grade OSs had potentially actionable alterations per CKDB. Concurrent gene amplifications of KIT, KDR, and PDGFRA at 4q12, and VEGFA and CCND3 at 6p12-21, might offer promising therapeutic options for patients with recurrent/metastatic OS resistant to conventional chemotherapy."

Molecular diagnostics through CGP testing served as an aid in diagnosis according to WHO2021. Cases where drug suggestions were feasible underwent treatment with targeted molecular therapies and checkpoint inhibitor. We experienced cases where hereditary cancer syndromes such as Lynch syndrome were diagnosed through the detection of germline pathogenic variants.

In addition to the postoperative blood sampling described above, we are currently conducting (1) postoperative blood sampling and (2) postoperative blood sampling after completion of adjuvant therapy. We aim to ascertain whether this mutation can serve as a predictive marker for response to postoperative chemotherapy or recurrence, especially in hormone-positive breast cancer patients at high risk of recurrence.

Despite the limited number of cases in some histological types, this study revealed genomic characterizations among many histological types of BC. This information will provide an important basis for considering genome-based precision medicine in the future.

Additionally, the mean difference in TMB values compared with WES was lower for NOP-overall (3.55 [95% CI: 0.98-6.13]) than for NOP-coding (6.22 [95% CI: 3.73-8.70]). These results exemplify the utility of incorporating non-coding regions to maintain accurate TMB estimates in small-sized panels.