Clinico-radiological Features and Next Generation Sequencing of Pulmonary Epithelioid Hemangioendothelioma: A Case Report and Review of Literature

Epithelioid hemangioendothelioma is a very rare, vascular, low-grade malignant tumor found in the lungs, liver, bone, and other soft tissues. Most patients with pulmonary epithelioid hemangioendothelioma (PEH) are asymptomatic but usually present with multiple bilateral nodular lesions in the lungs. Currently, surgical lung biopsy, histology, and immunohistochemical methods are essential for diagnosis. However, there is no standard therapy for the treatment for PEH. Our paper describes the clinico-radiologic features and genomics of PEH based on next-generation sequencing (NGS) in a 43-year-old male we encountered. The patient came to the hospital with right chest pain. After investigation, a lesion in the middle lobe of the right lung was found, together with smaller multiple lesions in both lungs. After resection of the lesion, histopathological analysis showed positive findings for PEH. The patient's blood and tumor tissue were sent for NGS analysis for further investigation. Results from the analysis revealed mutations of multiple genes. The information obtained from the genomic analysis of PEH using NGS may be significant for the planning and monitoring of treatment for this disease.