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The association between NAPSA (HGNC:13395) and lung adenocarcinoma (MONDO_0005061) is supported by multiple large-scale studies that demonstrate a robust correlation between NAPSA protein expression and key clinicopathological features of the disease. One pivotal study retrospectively reviewed 976 untreated primary lung adenocarcinoma cases (PMID:36524085) and showed that positive immunohistochemical staining for NAPSA significantly predicted the presence of EGFR mutations. This finding underscores the utility of NAPSA as a biomarker when conventional genetic testing is impractical.
In addition to the large cohort, an independent study of 29 pulmonary mucinous adenocarcinoma patients (PMID:29375717) further reinforced the diagnostic relevance of NAPSA. These observations were bolstered by multi-omic analyses in a separate investigation (PMID:39948103) that integrated programmed cell death and expression profiles, revealing a significant correlation between NAPSA expression and tumor progression. The convergent evidence from these studies provides strong support for the clinical association between NAPSA expression and lung adenocarcinoma pathology.
Although multiple studies report robust correlations, there is a notable gap in the literature regarding specific pathogenic sequence variants in NAPSA. None of the reports provided a detailed HGVS‐formatted variant, and therefore the genetic evidence based solely on variant-level data remains limited. As such, the genetic contribution to the disease mediated by point mutations or genomic structural alterations in NAPSA is less defined.
Conversely, functional evidence from immunohistochemical assays and multi-modal multi-omic analyses supports a contributory role for NAPSA in the pathogenesis of lung adenocarcinoma. Experimental findings consistently indicate that the protein expression of NAPSA correlates with key molecular subtypes, notably those defined by EGFR mutation status. This experimental concordance further substantiates the potential mechanistic role of NAPSA in modulating tumor behavior.
Overall, the clinical and functional data coalesce to build a coherent narrative supporting the use of NAPSA as a valuable biomarker for lung adenocarcinoma. The evidence indicates that high NAPSA expression is not only associated with disease presence but also with significant clinical parameters that can aid in diagnostic decision-making and therapeutic planning.
Key take‑home sentence: NAPSA expression serves as a robust biomarker for lung adenocarcinoma, offering significant clinical utility in diagnostic evaluation and potential therapeutic stratification when genetic testing is limited.
Gene–Disease AssociationStrongA robust association is demonstrated by a study of 976 LUAD cases (PMID:36524085) and replication in additional cohorts (PMID:29375717; PMID:39948103), validating the clinical relevance of NAPSA expression. Genetic EvidenceLimitedAlthough the correlation between NAPSA expression and lung adenocarcinoma is clear, no specific HGVS‐formatted pathogenic variants have been reported in the literature. Functional EvidenceModerateMultiple functional studies, including immunohistochemical and multi-omic assays, support a role for NAPSA in tumor progression and its correlation with EGFR mutation status (PMID:39948103). |