RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase)

BRAFV600E mutation was the most common alteration observed in gangliogliomas, whereas mutations in other genes, such as FGFR1, H3K27M, KRAS, IDH1, and RAF1, were rare.

The presence of CLT appears to exert a protective effect in PTC. However, the prognostic significance of BRAF V600E mutation varies with tumor size. While CLT-related inflammatory microenvironment may counteract tumor progression in small cancers, it seems insufficient to mitigate the aggressive behavior driven by BRAF V600E mutation in larger tumors.

However, notably, certain mutations were exclusive to specific groups, such as B-Raf proto-oncogene, serine/threonine kinase (BRAF), anaplastic lymphoma kinase/echinoderm microtubule-associated protein-like 4 (ALK/EML4), and paired box 8 - peroxisome proliferator activator receptor gamma (PAX8-PPARG) in OPTCs or EIF1AX in OCs. Importantly, only 3.6% (1/28) of malignant OPTC/ONs were tested negative on molecular analysis, suggesting that ONs with negative molecular test results are more likely to be benign than malignant.

ACE2 negatively showed an inverse correlation with CD8+ T-cell infiltration (r = -0.186, P < 0.001) and PD-L1 expression (r = -0.282, P = 0.022). The upregulation of ACE2 is associated with nerve invasion, pathological type, and an immunosuppressive microenvironment with reduced CD8+ T-cell infiltration and PD-L1 expression.

Altogether, these findings were insufficient to establish a diagnosis of pcGDTCL. We review the clinical, histopathologic, and molecular sequencing data pertaining to our rare patient as well as the recent literature on indolent CD30+LPD with gamma-delta T-cells.

Overall, despite recent advances in multimodal management, the prognostic remains severe. The issue is ongoing, and we expect a massive expansion within the following years, across a guideline-based, as well as a personalized decision.

This strange case was similar to a previously reported tumour reported in the literature, which clustered perfectly with our case. Further reports are needed to confirm the hypothesis that this neoplasm represents a novel tumour type.

Our findings underscore the clinical and genetic diversity of RASopathies in the Indian population and highlight the role of next-generation sequencing in early and accurate diagnosis. While exploratory drug-gene interaction analysis provides hypothesis-generating insights, clinical translation requires rigorous validation in functional studies and clinical trials.

BRAF-V600E VAF is associated with high invasive characteristics of PTC. The predictive model developed in this study can effectively predict cLNM in PTC.

Furthermore, the pleiotropic regulation of RRBP1 in neurodegeneration, cardiovascular homeostasis and bone metabolism highlights its environment-dependent functions. The present review identified the multidimensional regulatory network of RRBP1 in cancer and non-cancer systems to enhance the understanding of its molecular mechanism, demonstrated its broad regulatory value and potentially provided a key entry point to analyze the disease and develop precision therapies.

The disease was refractory to multiple lines of treatment, including dual immunotherapy and chemotherapy, and the patient died 18 months after diagnosis. This case represents a rare and fatal example of a triple wild-type cutaneous melanoma with a MAP4::RAF1 fusion in a young adult, thereby expanding the clinicopathologic and prognostic spectrum of RAF1-fused melanomas of non-Spitz lineage.