RB1 mutation

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.

Germline changes associated with malignancies were examined using next-generation sequencing (NGS). There were no germline alterations discovered, suggesting no predisposition to develop cancer. Three pathogenic/likely pathogenic heterozygous variants were found in the patient by carrier screening. Absence of germline RB1 mutations or other hereditary cancer syndromes implicates treatment-related factors (chemotherapy/radiotherapy) as the primary driver of sequential malignancies. Nonhereditary retinoblastoma (RB) survivors have a lower risk of secondary malignancies (SMNs) compared to their hereditary counterparts. Chemotherapy, especially alkylating agents, increases the risk of secondary acute myelogenous leukemia (AML) and other leukemias and lymphomas due to its mutagenic effects and genetic factors. Although RB survivors rarely develop secondary cancers, the limited patient numbers and short follow-up periods may influence SPC risk assessments. Continuous monitoring and personalized follow-up care are crucial for managing long-term risks in these survivors. This research emphasizes the essential importance of ongoing monitoring and follow-up for survivors of retinoblastoma (RB) to identify and address secondary malignancies (SMNs), improve the management of long-term complications, and enhance both life expectancy and quality of life.

Histopathological examination confirmed leiomyosarcoma, and the patient underwent four chemotherapy cycles with doxorubicin, followed by surgical resection...This case underscores the importance of personalized treatment strategies, including surgical decision-making, chemotherapy, and molecular characterization, in managing rare tumors like IVC leiomyosarcoma. Further research is needed to explore potential oncogenic targets and improve prognosis.

Tarlatamab appeared effective when added to osimertinib. Further analysis of the combination of bispecific DLL3 T-cell engager and EGFR tyrosine kinase inhibitor is warranted to confirm these findings.

MCC oncogenesis and treatment response transcend viral status. While mutational analysis confirms previous findings, assessment of the transcriptome and tumor microenvironment suggests alternate therapeutic targets.

These findings underscore the potential of multimodal artificial intelligence (AI) tools to advance precision oncology, particularly in resource-limited settings. Further validation in larger, diverse cohorts is warranted.