[An analysis of clinical and genetic feature in pulmonary artery sarcoma]

Objective: To retrospectively analyze the clinical, imaging, pathological and genetic features in patients with pulmonary artery sarcoma (PAS) in a single center, and to investigate the disease origin of PAS, as well as its relationship with other pulmonary vascular diseases. Methods: We retrospectively identified and analyzed clinical features of 13 cases with PAS those were admitted in the First Affiliated Hospital of Guangzhou Medical University between January 2015 and January 2021. Whole exome sequencing (WES) was performed to further analyze their genetic characteristics in 8 postoperative specimens. Results: The average age of PAS patients was 26-67 (43.2±11.6) years, and the median time from symptom to diagnosis was 8 months (IQR: 3, 11.5). The most common symptom of PAS was shortness of breath (84.6%), and the most common complication was pulmonary hypertension (69.2%).A total of 5 genes with specific mutations in PAS patients were identified by genomic analysis. Compared with genetic features of pulmonary embolism (PE), pulmonary arterial hypertension (PAH) and lung cancer (LC),we found genetic similarity between PAS and LC. Using KEEG database, we identified that most of the PAS-mutated genes belonged to cancer-enriched signaling pathways. Conclusions: PAS is a kind of malignant tumor located in the pulmonary vascular trunk, without a good prognosis and specific clinical manifstations. The occurrence of PAS may be associathed with mutations of MDM2, PIK3CA and TP53.