TEST:

Oncomine™ Comprehensive Assay Plus

This case represents the first reported instance of ESOS with an NTRK fusion. The rapid and sustained response to larotrectinib highlights the potential of precision medicine in managing rare and aggressive tumors, emphasizing the importance of molecular profiling to identify actionable targets.

The detection rate for FGFR1-4 alterations in a real-world, dual-institution cohort of urinary tract carcinomas was reported.

This study sheds light on the genetic landscape of BC driver genes in Oman and the shared molecular traits with Western populations while uncovering unique regional alterations in NTRK1, OR6F1, and FGFR4. These findings highlight the need for region-specific insights to inform targeted therapies and personalized care, advancing the global understanding of BC biology.

Our real-world study supports the clinical utility of the GIM metric and the analytical validity of CCNE1 amplification, a new promising biomarker for personalizing treatment in HR proficient HGSC patients. The discordance between CCNE1 amplification and protein expression raises intriguing questions about the mechanisms of CCNE1-driven tumorigenesis and warrants further investigation.

The large-sized panel detected more variants, thereby enhancing clinical actionability. With more therapeutic targets revealed in the future, CGP may be particularly impactful in refining strategies for TNBC management.

A short overview of the literature is also reported. To our knowledge, no previous reports exist on single pulmonary metastasis from low-grade meningioma occurring more than 20 years after diagnosis.

Immunohistochemistry revealed varying levels of positivity with intestinal markers in our cases. In two cases where CGP was performed, molecular alterations previously described as characteristic of small intestinal neuroendocrine tumours were identified. These findings suggest intestinal differentiation in these tumours and a possible relationship to small intestinal neuroendocrine tumours. This could also pose differential diagnostic challenges. Therefore, investigation of the gastrointestinal system is recommended in such cases to exclude metastatic lesions.

Notably, germline carriers exhibited lower PIK3CA mutation rates than non-carriers. These findings advance our understanding of Thai breast cancer genomics and underscore the importance of ethnic diversity in cancer research, offering insights into tailored screening and therapeutic approaches.

In three cases, there was refinement or reassignment of the diagnosis, based on the CGP findings. Our results demonstrate that CGP can provide useful additional information and can be beneficial in the clinical management of patients with mesenchymal tumours.

Genetic alterations with therapeutic relevance primarily include high TMB and high GIS. Previously unknown mutations suitable for targeted therapy were rarely identified, as almost all cases had previously undergone small targeted panel testing.

Overall, the genomic landscape between early- and adult-onset CRC appears similar. However, our study revealed the enrichment of NOTCH1, FBXW7, PIK3CA, and FGFR3 along with KRAS G12 mutations, were more frequent in early-onset compared to adult-onset cases. Further studies with a larger cohort of patients on the comprehensive analysis of genetic/epigenetic signatures are required.

Orthogonal FISH tests validated seven CNAs characterized by CN gain ≥ 6 or complete loss. Considering the CNAs growing significance in precision medicine, our findings further prompt towards a robust validation of NGS detection in FFPE materials.