PMS2 (PMS1 protein homolog 2)

Lesion-specific molecular characterization combined with regional lymph node MMR phenotyping is critical for the precise management of SCRCs with discordant MMR status. This case provides a referable diagnostic workflow and surgical decision-making framework for this rare clinical scenario, supporting risk-adapted individualized therapy for molecularly heterogeneous colorectal cancer.

Despite lower prevalence, a clinically meaningful proportion of patients ≥70 harbor actionable P/LP variants, often without FH that would prompt risk-reducing interventions. These findings suggest reduced sensitivity of FH-based risk assessment in older individuals, supporting age-inclusive genetic counseling and testing strategies extending beyond FH-based criteria.

The benefit-cost ratio (BCR) analysis demonstrated the greater cost-effectiveness of genetic testing compared to endoscopic surveillance to all relatives at risk. Although our cohort is clinically enriched and does not reflect the population prevalence of LS in Southern Thailand, these findings highlight the substantial LS burden within high-risk families and underscore the importance of incorporating genetic screening, counseling, and tailored surveillance strategies into clinical practice.

Post-operatively, she received six cycles of carboplatin, paclitaxel, and dostarlimab every three weeks, followed by maintenance dostarlimab. This case illustrates that aggressive multimodal therapy including immune checkpoint inhibition may achieve durable disease control in advanced-stage MMR-deficient uterine LCNEC. While the relative contributions of surgery, chemotherapy, radiation, and immunotherapy cannot be separated, the favorable outcome supports further investigation of immunotherapy in rare high-grade endometrial neuroendocrine carcinomas and underscores the importance of including these histologies in clinical trials.

This exploratory analysis suggested a higher uptake of risk-reducing surgery at the safety-net hospital than at the university medical center. Understanding factors contributing to this difference will be critical to supporting gynecologic cancer risk management in Lynch syndrome.

Immune analysis indicated an immune-hot phenotype, but nuclear PD-L1 positivity did not correlate with T-cell density. This study highlights the significance of PTEN loss and nuclear PD-L1 expression in basal subtype BCa, contributing to improved risk stratification and potential precision treatments in bladder cancer.

MLH1 promoter methylation, MMR deficiency, and CDX2 are rare events in PTC and do not appear to influence PFS. Although infrequent, the expression of CDX2 is not exclusive to any PTC subtype.

In reporting these neoplasms, we highlight that signet ring cells occasionally occur in primary endometrial carcinomas of endometrioid-type and, although numbers are small, there appears to be an association with MMR deficiency. These tumors have a propensity for high-stage at presentation.

The value of this report is, therefore, not mechanistic proof but recognition of a practical morphologic-immunophenotypic observation: When a gastric carcinoma shows a sharply demarcated shift from differentiated to undifferentiated/rhabdoid morphology, dMMR should be considered, and selective ARID1A loss in the undifferentiated component may be associated with dedifferentiation. These findings should be interpreted with caution as preliminary, hypothesis-generating observations that require validation in larger studies with more extensive molecular profiling.

These findings suggest that incorporating ancestry into screening, trials, and precision oncology may improve equity, though outcome-linked prospective studies and implementation research are warranted.

However, methodological heterogeneity and lack of standardization hinder definitive conclusions. Further studies, integrating MSI analyses are crucial to confirm their prognostic.

The pattern of mutation-defined POLE/MMR/TP53 group classifications varied in histological subtypes, FIGO stage and clinical outcomes in BRCA wild type EOC. BRCA wild type EOC patients with POLEmut or NSMP had favorable survival than those with MMRmut or TP53mut. The panel could be a potential marker for EOC patients.