Case report: Rare epithelioid hemangioendothelioma occurs in both main bronchus and lung

Abstract

Pulmonary epithelioid hemangioendothelioma (PEH) is a rare vascular tumor of endothelial origin with low- to intermediate-grade malignant potentials. Since there is no characteristic clinical or biological marker available for PEH, most cases require a surgical lung biopsy for diagnosis. To date, although some patients with PEH reported in the literature were diagnosed through bronchoscopic biopsy, most of the patients still underwent surgical lung biopsy for confirmation. In this case report, we present a rare case diagnosed as PEH through endobronchial biopsies due to the presence of an intraluminal mass that blocked the trachea and caused atelectasis in the right upper lobe. Moreover, since surgery was not appropriate for this patient with unresectable bilateral multiple nodules, we adopted genetic analysis using NGS to provide a guide for personalized treatment. Then, based on the NGS results, the patient was treated with anti-PD-1 mAb and sirolimus for 1 year and has been stable in a 1-year follow-up examination.

Keywords: POLE (P286R) mutation; bronchoscopic; case report; genetic analysis; pulmonary epithelioid hemangioendothelioma.

FIGURE 1

(A–D) Chest CT showing a large tumor in the hilum of the right lung, and multiple bilateral pulmonary nodules. (E–H) FDG- positron emission tomography/CT showing high accumulation of FDG in each lesion. FDG, fluorodeoxyglucose.

FIGURE 2

The tumor in the trachea obstructed the main right bronchial opening viewed in the bronchoscope (A). After vascular thrombosis therapy, the tumor reduced (B).

FIGURE 3

Immunohistochemical stains showed positive staining of the tumor cells for CD31, CD34, Fli-1, CK, Vimentin, FVIII, CD10, and Ki-67 (20%). Desmin, Actin, SMA, CD68, TTF-1, P53, S-100, and LCA were negative in the tumor cells.

FIGURE 4

(A) The patient’s chest CT examination conducted for the first time showed multiple nodules located in the bilateral lobe, the right main bronchus was obstructed which caused pulmonary atelectasis in the right upper lobe. (B) The chest CT examination after vascular intervention showed recruitment of the superior lobe of the right lung. (C) In contrast to the previous chest CT, the most recent chest CT showed a reduction in tumor size.