CDKN2A deletion

ONSM represents a predominantly NF2-intact meningioma subtype defined by neural niche-associated transcriptional signatures. Although typically indolent, ONSM can, in rare instances, evolve into an aggressive disease through further accumulation of CNVs.

P1/2, N=27, Recruiting, OHSU Knight Cancer Institute | Not yet recruiting --> Recruiting

As we enter the era of precision medicine, classifying cancers by molecular markers will become increasingly valuable. Our investigation enriches the literature by identifying novel mutations and mutations exclusive to certain demographic groups. These findings support a shift beyond histology toward molecularly informed diagnostics and pathway-directed therapeutic hypotheses for MFS. Next steps should validate candidate markers in independent cohorts and link genomic profiles to clinicopathologic features, disease course, and treatment response to improve clinical translation. These observations will help shape diagnostics and targeted therapies against MFS.

The identification of sex-associated and race-associated mutational patterns, together with the enrichment of MTOR alterations in recurrent and metastatic disease, highlights biologically plausible mechanisms of progression and potential therapeutic vulnerabilities. These findings support the value of comprehensive genomic profiling in TC and emphasize the need for prospective, multi-omic studies to validate these observations and guide the development of more personalized treatment strategies.

Here, we report a case of an ALK-positive lung adenocarcinoma patient who developed resistance following sequential treatment with the ALK-TKI alectinib and lorlatinib, accompanied by histological transformation to LCNEC and concurrent genetic alterations including TP53 deletion, CDKN2A deletion, and MYC amplification. This case expands the spectrum of ALK-TKI resistance mechanisms and highlights the potential value of exploring combinatorial approaches incorporating immunotherapy, antiangiogenic therapy, and chemotherapy for the management of such cases.

Combined p16/MTAP IHC provides a synergistic, biologically grounded approach that refines diagnostic accuracy in MELTUMPs. This dual-marker algorithm promotes a shift from purely morphology-based evaluation toward a reproducible, molecularly informed classification, improving both diagnostic confidence and patient management.

While CDKN2A loss is classically associated with cell cycle deregulation through the p16-Cdk4-Rb axis, our findings suggest an additional layer of metabolic vulnerability arising from altered NAD homeostasis in CDKN2A -deleted glioblastoma, revealing a previously unrecognized metabolic-genetic interface for rationally revisiting NAD + targeting strategies, moving beyond the broad inhibition approaches.

The tumours were advanced stage at diagnosis: stage IIB (1 case), IIIC1 (2 cases), and IVB (2 cases). Our findings suggest that cervical adenosquamous carcinoma should be classified into HPV-associated and HPV-independent types and this should be reflected in updated WHO Classifications.

In conclusion, PXA and eGBM share similar clinical characteristics but exhibit different histological features. From a molecular perspective, PXA and eGBM belong to the same category and progress through the accumulation of genetic abnormalities, including TERT-p mutations, CDKN2A/B deletions, and TP53 mutations, based on the presence of BRAF mutation; however, larger sample sizes are required for validation.

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.

We observed that necrosis and increased microvascular density resulting from microvascular proliferation are both defining features of the tumor and impact patient prognosis and survival. In addition, they induce or are associated with other essential changes (p53, PTEN, CDKN2A) that promote tumor aggressiveness.

The high diagnostic coverage and rapid turnaround of the FISH-based approach underscore its value as a reliable and efficient diagnostic tool in newly diagnosed ALL. The authors have confirmed clinical trial registration is not needed for this submission.