Clinico‐radiological features and next generation sequencing of pulmonary epithelioid hemangioendothelioma: A case report and review of literature

Abstract

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.

A clinically feasible circulating tumor cell sorting system for monitoring the progression of advanced hepatocellular carcinoma

“…Therefore, it is necessary to detect corresponding mutated genes and then select the most effective therapeutic schedule. Compared with traditional detection methods, NGS has the advantage of offering a single-time high-throughput detection of the status and changes of multiple genes in vivo, enriching the rigid requirements for clinical diagnosis, treatment, and continuous monitoring of HCC prognosis [ 35 , 36 ]. Biopsy is the gold standard diagnostic method for solid tumors.…”

An extremely rare case of pulmonary epithelioid hemangioendothelioma

“…6 Another study has confirmed that the occurrence of this disease is related to chronic bartonella infection, which is related to the invasion and induction of Bartonella into red blood cells intradermal infection and at least three Bartonella species induce vascular endothelial factor mediated proliferation, cytoskeleton rearrangement, and inhibit endothelial cell apoptosis by upregulating mitosis and proinflammatory genes. 7 EHE tends to occur in middle-aged women, and the incidence rate is 2-4 times that of men. More than 40% of patients are younger than 30 years old.…”

Case Report: 18F-FDG PET/CT Demonstrating Malignant Spread of a Pulmonary Epithelioid Hemangioendothelioma

“…Nuclear expression of CAMTA and TFE can be detected as a result of WWTR1–CAMTA1 and YAP1–TFE3 fusions ( 5 , 6 ). Disease-related genetic changes that can be detected using next-generation sequencing may be useful in predicting treatment response ( 19 ). Although next-generation sequencing was performed in our patient, no significant mutations were identified.…”