In the present manuscript, we provide a subsequent long-term follow-up report of the same patient, offering an extended 88-month postoperative course and additional radiologic and pathologic details not included in the earlier publication. This follow-up report highlights the long-term benign behavior of the tumor despite positive surgical margins and anaplastic lymphoma kinase (ALK)-negative immunohistochemistry, contributing meaningful information to the scarce literature on adult duodenal IMTs.
NEN tumors are highly vascularized and consistently positive for CD31. Despite reports that CD31/PACAM1 is important to cell adhesion and tumor phenotype, there was no identifiable measurable impact of high CD31 levels on NEN. Nor was there a prognostic clinical value for CD31 staining quantification.
13 days ago
Journal
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CD31 (Platelet and endothelial cell adhesion molecule 1) • PECAM1 (Platelet And Endothelial Cell Adhesion Molecule 1)
Management of FAP is complex, and patients require frequent and lifelong surveillance. This review will discuss the current understanding and clinical management of FAP as well as innovations and challenges in clinical practice.
Our report expands both the phenotypic and molecular spectrum of POLD1-associated PPAP by documenting the first duodenal adenocarcinomas in germline carriers and describing a novel variant. These findings emphasize the need for systematic upper gastrointestinal surveillance, support the systematic reporting of rare POLD1 variants to refine genotype-phenotype correlations, and underline the potential therapeutic relevance of identifying carriers in the context of immunotherapy.
These findings suggest that, for patients with multiple metastases, localized radiotherapy could be a feasible palliative option for pain relief and may provide short-term benefit. Larger studies are warranted to confirm this conclusion.
In conclusion, MGMT promoter methylation may be a prognostic biomarker in select solid tumors; however, its impact on OS varies by cancer type. Further studies with standardized methylation assessment methods are warranted to clarify its prognostic and predictive utility, especially on OS.
Tumor size and Ki-67 were associated with malignancy in this exploratory multivariable analysis, but these findings should be interpreted with caution due to limited follow-up and sample imbalance. Combined with CD117/DOG1 profiling, they enhance diagnostic accuracy and may inform diagnostic assessment; however, prognostic implications require outcome-based studies.
RNA sequencing demonstrated a novel TNFAIP3::GLI1 gene fusion in the liver lesion, which had higher mitotic activity but showed similar pure epithelioid morphology and immunophenotype as the original small bowel lesion. In addition to expanding the spectrum of GLI1-associated gene fusions, this case highlights the potential for misdiagnosis of epithelioid GLI1-altered mesenchymal tumors as adenocarcinoma (particularly given the variable immunoreactivity for cytokeratin), and the need for long-term follow up of these typically slowly growing neoplasms.
22 days ago
Journal
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GLI1 (GLI Family Zinc Finger 1) • TNFAIP3 (TNF Alpha Induced Protein 3)
Genetic colon-specific mouse model with loss of K8 and Apc adequately resembles human CRC. This study identifies anti-tumorigenic protective roles of colonocyte K8 in the colon.