Multidimensional analysis of pulmonary blastoma: clinical, bibliometric and bioinformatic insights

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Abstract Objective Pulmonary blastoma (PB) is a rare primary lung tumor, accounting for less than 0.5% of all lung cancers. Its epidemiological and clinical characteristics remain unclear, and the molecular pathogenesis had not been fully elucidated, which poses challenges to standardized diagnosis and treatment. This study aimed to: (1) summarize the clinical significance of PB (including epidemiology, clinical manifestations, diagnosis, treatment, and follow-up) through a case report; (2) systematically delineate the global research trends of PB over the past 35 years using bibliometric methods; (3) explore its molecular mechanisms via bioinformatics to provide evidence for clinical practice and research directions. Methods First, a detailed analysis of one PB case was conducted, documenting the patient’s demographic data (age, gender), progression of clinical symptoms, imaging findings, pathological characteristics, diagnostic workflow, treatment regimen, and follow-up outcomes. Second, for the bibliometric analysis, 686 PB-related articles published between 1990 and 2025 were retrieved from the Web of Science Core Collection. VOSviewer (version 1.6.20) was used to analyze author/institution collaboration networks and keyword co-occurrence patterns, while CiteSpace (version 6.2.R1) was employed to identify research frontiers and citation burst topics. Finally, to explore molecular mechanisms, PB-related gene expression datasets were downloaded from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were screened using the limma package with Benjamini–Hochberg FDR correction (screening threshold: |log₂FC| > 2, FDR < 0.05) (FDR = Benjamini–Hochberg adjusted P-value). Subsequently, Gene Ontology (GO) functional annotation, Reactome enrichment analysis, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis were performed using the clusterProfiler package. Results Clinical Case Presentation: A 60-year-old male with a 40‑pack‑year smoking history presented with cough and chest pain. Contrast‑enhanced chest CT revealed a lobulated mass (15 × 9.8 cm) in the right upper lobe, with encasement of the right pulmonary artery and osteolytic rib destruction. Pathological examination confirmed biphasic pulmonary blastoma (BPB), positive for mutant P53 and with a Ki‑67 index of approximately 70%. The patient received chemoradiotherapy, which was discontinued due to myelosuppression, followed by sintilimab immunotherapy. Follow‑up CT demonstrated significant tumor shrinkage. Bibliometric Analysis: A total of 686 PB‑related articles (1990–2025) were retrieved and analyzed, revealing five distinct developmental phases. The United States (206 articles), China, and Japan (49 articles each) were the leading contributors, with Washington University being the most productive institution. Research focus shifted over time from clinical‑pathological features to molecular mechanisms and congenital associations, with “cystic adenomatoid malformation” and “pathology” emerging as core thematic hotspots. Notably, the keyword 'mutations' (burst strength 3.39, 2020–2025) has become a recent research hotspot, which is highly consistent with the clinical demand for molecular targeted therapy of PB in this study. Bioinformatic Investigation: Analysis of the GSE110205 dataset identified 6782 DEGs. Intersection with known PB‑associated genes yielded 34 overlapping genes. GO enrichment analysis highlighted BMP signaling involvement, while KEGG pathway analysis prioritized the PI3K‑Akt pathway. Reactome pathway enrichment further indicated significant associations with growth factor signal transduction and surfactant metabolism. Conclusion This study constructed an integrated "clinical case-bibliometrics-bioinformatics" framework for PB. Clinical findings clarified PB’s imaging, pathological, and therapeutic characteristics; bibliometrics mapped global research trends; bioinformatics identified BMP signaling and PI3K-Akt pathway as core drivers. These results optimize PB’s early diagnosis and provide theoretical support for personalized intervention.