RB1 mutation

In our study cohort, nystagmus occurred in a minority of children, predominantly at presentation rather than as a consequence of enucleation, and was strongly associated with RB1 mutation and early disease onset. These findings provide reassurance for families that unilateral enucleation in infancy rarely induces nystagmus when the fellow eye is healthy.

Our findings elucidate that the I680T mutation-induced loss-of-function of RB1 simultaneously confers invasive proliferation and chemotherapeutic vulnerability to tumor cells, suggesting that RB1-I680T could serve as a predictive biomarker for chemotherapy response in NSCLC. Stratifying patients based on the RB1-I680T mutation status may enable personalized therapeutic strategies, particularly for tumors with E2F1 dysregulation.

Comprehensive genomic profiling (CGP) identified FGFR2-TACC2 fusion, TP53 mutation, and Rb1 loss. These findings suggest that targeted therapy may be considered in such rare and aggressive variants.

In CPS, this risk is multiplied, as it results from both genetic factors and previous treatment; in these patients, multiple primary cancers must be taken into account. When assessing imaging studies of patients with a history of malignancy, clinicians should consider not only recurrence and metastases but also the possibility of a new malignancy of a different histopathological nature.

These results demonstrate that LCNEC-P represents a distinct subgroup of LCNEC that is characterized by a specific morphological, immunohistochemical, and genetic profile, closely resembling SCLC-P. This study provides insights into the biology of LCNEC-P and supports its classification as a unique entity within LCNEC.

Genomics-guided therapy in sarcoma is feasible and impactful. Expanding timely access to molecular profiling is essential for advancing precision oncology in the MENA region.

In addition, we review the status of AURKA-specific inhibitors in clinical evaluation and their associated adverse effects. Finally, we cite the emerging therapeutic strategy of proteolysis targeting chimeras (PROTACs) as an innovative means to selectively degrade AURKs, offering a novel approach to targeted cancer therapy.

Approximately 5-10% of NETs are associated with hereditary syndromes, though recent findings suggest germline pathogenic variants, which were present in additional 5% of apparently sporadic NETs and NECs, requiring further study. An integrated histological, molecular, and clinical approach is essential to improve the classification, prognostication, and management of NENs, while recognizing the distinct biology of individual subtypes.

The most frequently mutated gene is NOTCH1. Extensive fusion gene, expression and molecular cluster analyses provide a molecular portrait of this rare and enigmatic tumour type.

Conversely, T-DXd administered due to the presence of HER2-low showed excellent effectiveness. Performing a re-biopsy is crucial due to the possible loss of estrogen receptors, which would require a change in therapeutic strategy no longer based on endocrine therapy. In cases that remain luminal, knowledge of the mutational profile may help to offer patients novel targeted treatments.

This report highlights a rare, malignant craniofacial PEComa with extensive invasion into the orbit and skull base, expanding the known clinical and molecular spectrum of these tumors.

It was more extensive in poorly differentiated areas and showed an inverse correlation with the proliferation rate. Our histopathologic, immunohistochemical and genetic findings provide further evidence that Bowen disease may act as a precursor for the rosette-forming component of the Wnt/β-catenin-activated carcinoma and that there is an inverse correlation between CDX2 expression and the proliferation rate.