TEST:

Illumina Focus Panel

Whereas the NGS run may pass the quality metric, batch size influences quality metrics, and so optimization of runs should consider optimal sample size. NGS runs with large batch sizes may need additional scrutiny and acceptable thresholds to ensure optimal coverage of reads.

AFP, the targeted, breakpoint/fusion partner agnostic panel, outperformed 3 other established panels using real-world, fusion-driven thyroid cancers by an average detection frequency of 39%. Such findings demonstrate the importance in sequencing panel selection for fusion-driven thyroid cancer detection, and the potential downstream consequences for diagnostic utility and therapeutic intervention.

The present study underscores the value of NGS to optimally address EGFR mutations, specially the rare and novel ones due to its higher sensitivity and specificity compared to other techniques. This approach is particularly important for the Latin American population which is underrepresented in genomic databases. Clinical correlation of this genomic findings is ongoing.

Our study is concordant with larger CRC sequencing studies. Although, the main targetable mutations are covered by the Focus Panel, a considerable proportion of specimens had no identifiable mutations. As more treatments become available, more extensive panels are necessary.

In this population, 42% have received standard lenvatinib and 13% have received genotype-matched targeted therapy... In our real-world study, NGS testing revealed high rates of Tier I-II actionable genomic alterations in PTC (77%), MTC (81%), and ATC (31%). NGS-identified BRAF V600E mutations in ATC has a high rate of triggering matched targeted therapy. NGS identification of RET-mutated MTC facilitated use of RET inhibitors.

Peruvian patients are a population with a high mutation rate, in this cohort almost 50% of them had a target mutation, especially the EGFR mutation. Likewise, it was found that the detection rate of the EGFR mutation was higher with NGS in liquid biopsy than in tissue samples, both in the diagnostic and in the disease progression samples. On the other hand, it is important to mention that the frequency of KRAS mutations found is higher than previous Peruvian reports.

In this study, after excluding NSCLC patients harboring driven oncogenes as EGFR, ALK and ROS1 mutation, twenty NSCLC patents with higher Programmed cell death 1 ligand 1 (PD-L1) expression (PD-L1 ≧ 50%, immunohistochemical stained by SP263 or 22C3) were administered with Pembrolizumab alone as first-line immunotherapy...In conclusion, NGS analysis was recommended even the NSCLC patients with higher PD-L1 expression before immunnotherapy. First-line ICIs monotherapy should be cautious for oncogene-driven NSCLC patients.

This is necessary in metastatic patients but also in the early stages, taking into account the relationship observed between the subtype and the risk of metastasis. PD-L1 status could be a prognostic factor in KRASm patients, but more investigations are required.