GNAS mutation

NGS informed surgical decision-making, cyst type differentiation, and evaluation of pancreatic duct dilation, leading to changes in management. Indeed, NGS emerges as a useful tool in select patients with pancreatic lesions by improving diagnostic precision and guiding patient care paths.

In the multivariate analysis for OS after CRS+IPCT, TP53-mut &lsqb;hazard ratio (HR) 3.23, P=0.004] and WHO grade (grade 2 HR 2.73, P=0.03 and grade 3 HR 5.67, P<0.001) were the only independent predictors of survival. Our results suggest that, in addition to tumor grade, TP53 status may help to provide a more patient-centered approach in guiding therapy in PMP.

Finally, we show that urachal cancer shares genomic and transcriptomic similarity with colorectal cancer compared to bladder cancer. This study provides new insights into the molecular profiles of urachal tumor samples and possibility of association with colorectal cancer that might guide future clinical trial design.

EGFR and PIK3CA amplifications, detectable via ctDNA but missed in tissue biopsies, indicated emerging resistance mechanisms. The SHIZUKU-HN study demonstrates the potential of ctDNA as a dynamic biomarker in HNSCC, offering early insights into treatment efficacy and informing personalized ICI therapy.

Assessment by the intact FGF23: total FGF23 ratio as well as gallium-DOTATATE scan suggested that the vertebral body lesion could represent FD. Other than understanding difference in underlying molecular processing of FGF23 in PMT and FD, testing for mutations, imaging studies as well as in situ hybridization helped solve the questions arising from this unique case of coexistence of PMT and FD.

NGS analysis of pancreatic cyst fluid demonstrates high specificity and may serve as an additional diagnostic tool to CEA. Combining cystic fluid CEA and NGS increases the accuracy in determining whether a lesion is mucinous and NGS showed a higher diagnostic accuracy in advanced lesions compared to CEA. While the absence of alarming NGS findings should not preclude surgical treatment, patients with alarming mutations should be considered for surgery.

GNAS mutations are prevalent among Chinese acromegaly patients, correlating with reduced pituitary tumor sizes and enhanced GH secretion functions. Our findings underscore the influence of gender on the clinical manifestations of GNAS mutations. Accordingly, we recommend that future clinical and foundational researches on acromegaly give heightened consideration to gender-specific differences.

Survival outcome was more closely associated with the grade of the peritoneal disease than with the grade of the primary neoplasm. Our findings support the developing concept that mutational analysis may provide prognostic information in patients with PMP.

CDK4/6 inhibition with palbociclib had clinical activity in PMC characterized by mutations in GNAS that was superior to that previously reported with cytotoxic chemotherapy. CDK4/6 inhibition is a novel therapeutic strategy worthy of further evaluation in this subgroup of gastrointestinal neoplasms.

This first reported case of primary jugular foramen fibrous dysplasia highlights the importance of considering this diagnosis when evaluating jugular fossa lesions. Understanding the anatomy of the infratemporal and jugular fossae, along with proficiency in microsurgical techniques, is essential for removing such tumors while preserving cranial nerve functions and the patient's quality of life. https://thejns.org/doi/10.3171/CASE24396.

Our findings indicate two key points: First, mutations within the MAPK pathway, particularly in KRAS, are evident across all tumors, along with a high frequency of GNAS mutations. Second, progression toward PMP or adenocarcinoma is associated with an accumulation of additional mutations within common oncogenic pathways.