ArticleDiscover oncology2025
GPC3: a novel mutated gene in pleuropulmonary blastoma.
Article in Discover oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Case Report: Congenital pulmonary airway malformation associated with a germline DICER1 splicing variant.Frontiers in pediatrics · 2026Article
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Authors and funding
14 authors.
Funding
Abstract
backgroundPleuropulmonary blastoma (PPB) is a rare pediatric sarcoma often associated with DICER1 mutations. However, additional genetic factors may influence disease progression and prognosis. This study identifies a novel mutation in the GPC3 gene and evaluates its potential as a prognostic biomarker in PPB.
methodsWhole-genome sequencing (WGS) was conducted on blood samples from a three-generation family with PPB. Candidate genes were prioritized based on autosomal recessive inheritance patterns and association with PPB. Immunohistochemistry was used to assess GPC3 expression in PPB tumor tissues, adjacent areas, and congenital pulmonary airway malformation (CPAM) samples. Kaplan-Meier survival analysis was performed, comparing survival outcomes in patients with varying levels of GPC3 expression.
resultsSeventeen candidate genes, including GPC3, were identified. A novel missense mutation in the GPC3 gene was confirmed, with significantly higher GPC3 expression observed in PPB tissues than in CPAM or adjacent non-tumor tissues. Survival analysis revealed that patients with high GPC3 expression (GPC3+++) exhibited a markedly lower two-year survival rate (30%) compared to moderate (GPC3++, 75%) and low (GPC3+, 90.9%) expression groups (p = 0.0035). The correlation between elevated GPC3 levels and poor prognosis suggests GPC3 as a potential biomarker for disease severity in PPB.
conclusionOur findings propose GPC3 as a novel mutation contributing to PPB susceptibility and progression. Elevated GPC3 expression correlates with poorer survival outcomes, indicating its potential as a prognostic marker and therapeutic target in PPB management.
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