EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked)

In luminal cells, EIF1A knockdown and the translation inhibitor homoharringtonine (HHT) both suppress HIF-1α translation and tumor growth, while promoting infiltration of anticancer immune cells including PD-1- T cells and CD163- macrophages...Collectively, this work defines conserved molecular features across PCa subtypes, providing promising insights for clinical management. This study was registered at Clinicaltrials.gov (NCT06834321).

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.

Therapies targeting specific genetic alterations and immunotherapy agents have been recently developed and introduced in clinical practice for the management of advanced-stage UMs. This review aims to present the latest advances in the clinical molecular pathology of UM, along with the resulting targeted, immunological, and other therapies that have been introduced or are currently under investigation.

Although driver mutations in sporadic medullary thyroid carcinoma (sMTC) mostly come from targeted NGS data in tumours from patients with localised disease, NGS findings can also be used for therapeutic purposes in advanced-stage sMTC cases with progressive local-regional or distant metastatic disease. We believe that additional studies should be conducted with a larger number of patients so that the findings can be included in the treatment guidelines to be prepared.

LRCH4 and GNS are suggested to be potential novel therapeutic targets, as LRCH4 upregulation links to inhibition of the mTOR/PI3K/Akt pathway, reducing proliferation, while GNS downregulation suppresses tumor growth and metastasis. Overall, proteomics-based preliminary findings suggest that EP + met modulate TNBC pathways, identifying potential biomarkers and providing a foundation for future validation.

Ongoing research into the molecular basis of ocular melanoma is essential to advance targeted therapies and improve clinical outcomes. The aim of this review is to provide a comprehensive overview of ocular melanoma, with a particular focus on the molecular biology underlying its clinical behaviour and emerging therapeutic opportunities.

In conclusions, MSO shares histomolecular overlap with primary thyroid carcinoma, validating WHO 2022 thyroid tumor classification for risk stratification in struma ovarii. Conservative surgical management achieves excellent outcomes in low-grade cases.

Immunohistochemistry for BRAF V600E, RAS Q61R, p53, PTEN, and MTAP showed high concordance with the corresponding mutation status. These findings revealed significant histological and genetic differences between FTC- and PTC-derived ATCs, providing new insights into the molecular basis of FTC dedifferentiation into ATC.

While BAP1 , SF3B1 and EIF1AX mutations were associated with poor, intermediate and good prognosis, respectively, mutation analysis was inferior to the prospectively validated 15-GEP + PRAME expression classifier for predicting metastasis-free and overall survival. These results provide a more complete picture of genetic evolution in UM, and they move us closer to a molecular definition of malignant transformation in this cancer type.

Our case of a choroidal melanoma of low metastatic risk arising from an optic disc melanocytoma may suggest that these cases have a lower metastatic risk than melanomas not derived from melanocytomas though further studies including cases with genetic profiling and long-term systemic follow up to detect metastatic disease rates are necessary to establish such a pattern.

Furthermore, inhibition of RPS10, but not eIF1A, modulates a context-dependent regulatory translation initiation at CUG codon of SARS-CoV-2 and impedes infection. Our study underscores 1Ais as effective means to study the role of eIF1A and RPS10 in translation and suggests their targeted inhibition as potential therapies for cancer and viral infections.

In this study, we reported ten patients with CHEK2 variants among 740 metastatic UM patients (1.4%) and four primary UM patients with CHEK2 germline mutations. Although rare, UM patients with an abnormal ATM-CHEK2 axis might receive clinical benefits from medications that target DNA repair mechanisms.