PMC10419204_01
(A) 12-lead electrocardiogram shows sinus rhythm, and no significant ST-T changes. (B) Transthoracic echocardiography shows the white arrow indicate the atrial septal defect, which shows a discontinuity in the continuity of the middle atrial septum and a shunt from left to right. (C) Abdomen contrast-enhanced CT shows the white arrow indicate a round retroperitoneal mass with soft tissue density (about 4.5x2.5cm in size) and marked heterogeneous enhancement. (D) 3D reconstruction of the retroperitoneal mass shows the yellow mass indicated by the white arrow is the retroperitoneal mass, the red is the artery, the blue is the vein, and the sky blue is the portal vein. The retroperitoneal mass is closely adjacent to the inferior vena cava, aorta, portal vein, right renal artery and left renal artery.
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The 12-lead electrocardiogram demonstrated sinus rhythm ( Figure 1A ). TTE revealed the presence of an atrial septal defect, a thickened ventricular septum measuring 13 mm, mild mitral and tricuspid regurgitation, reduced left ventricular systolic function, and an ejection fraction (EF) of 46% ( Figure 1B ). CT of the entire abdominal region showed a round retroperitoneal mass with soft tissue density, measuring approximately 4.5x2.5 cm, exhibiting notable heterogeneous enhancement. Considering these findings, the possibility of a neurogenic tumor was considered ( Figure 1C ). To better assess the mass's relationship with adjacent structures, a three-dimensional reconstruction of the retroperitoneal mass in the abdomen was performed, revealing its proximity to the inferior vena cava, aorta, portal vein, right renal artery, and left renal artery ( Figure 1D ).
Somatostatin receptor imaging (68Ga PET-CT). The yellow arrow indicated a retroperitoneal mass with abnormal increased expression of somatostatin receptor was consistent with the appearance of paraganglioma.
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Somatostatin receptor imaging (68Ga PET-CT) indicated abnormally increased expression of somatostatin receptor in the retroperitoneal mass, consistent with the appearance of paraganglioma, and no evidence of tumor metastasis elsewhere in the body ( Figure 2 ).
Histopathologic pictures of the retroperitoneal mass. Hematoxylin-eosin staining showed characteristic 'Zellballen' architecture of tumor cells.
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Postoperative pathological examination confirmed the diagnosis of paraganglioma ( Figure 3 ).
(A) EPAS1 wild type was predicted by AlphaFold2. The green color in the figure represents the tyrosine at position 834 of the EPAS1 wild type encoded protein. (B) EPAS1 mutant was predicted by tFold. The green color in the figure represents the cysteine at position 834 of the EPAS1 mutant encoded protein.
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WES, revealing consistent gene mutation sites with the patient. We predicted the protein structures of the EPAS1 wild type and mutant shown on the 3D model ( Figure 4 ).