case_images: PMC10546202_01
case_images: Ultrasound images of Xp11.2 translocation/TFE3 gene fusion associated with renal cell carcinoma (Xp11.2 RCC). (A) A highly heterogeneous hypoechoic mass in the right subrenal region with an irregular, lobulated morphology. The mass encroached on the renal sinus and protruded outward from the kidney. A class I blood flow signal was observed within and around the mass. (B) Multiple enlarged lymph nodes were detected adjacent to the right renal hilum, in proximity to the inferior vena cava, in the right adrenal region, and near the abdominal aorta.
case_images: fmed-10-1266630-g001.jpg
case_images: PMC10546202_01_fmed-10-1266630-g001.jpg
case_images: fig1
case_images: A class I blood flow signal was observed within and around the mass (Figure 1A). These lymph nodes were fused together and exhibited uneven echogenicity (Figure 1B).
case_images: Computed tomography (CT) images of Xp11.2 RCC. (A) The transverse image shows a right renal mass measuring approximately 5.2 cm x 7.1 cm x 8.8 cm with multiple calcifications. (B-D) The CT attenuation values of corticomedullary phase, nephrographic phase, and delayed phases were 83 HU, 82 HU, and 75 HU, respectively. The solid component of the mass displayed heterogeneous marked enhancement, with areas of hypodense necrosis observed within. Several fused lymph nodes were identified in the medial right kidney and retroperitoneum, showing the same density and enhancement pattern as the right intrarenal lesion.
case_images: fmed-10-1266630-g002.jpg
case_images: PMC10546202_01_fmed-10-1266630-g002.jpg
case_images: fig2
case_images: Additionally, several fused lymph nodes were identified in the medial right kidney and retroperitoneum, showing the same density and enhancement pattern as the right intrarenal lesion (Figure 2).
case_images: magnetic resonance urography (MRU) of Xp11.2 RCC. (A) T1WI transverse image shows a heterogeneous isosignal lesion. (B) T2WI transverse image shows a heterogeneous slightly low signal lesion. (C) DWI transverse image shows a slightly high signal lesion. (D-F) The degree of enhancement in the three phases of enhancement scan was lower than that in the renal parenchyma, and hemorrhage and necrosis were observed within the internal part of the lesion. Additionally, pseudocoated membrane was observed around the lesion.
case_images: fmed-10-1266630-g003.jpg
case_images: PMC10546202_01_fmed-10-1266630-g003.jpg
case_images: fig3
case_images: T1WI, slightly low signal in T2WI, and slightly high signal in DWI (Figures 3A-C). The degree of enhancement in the three phases of enhancement scan was lower than that in the renal parenchyma, and hemorrhage and necrosis were observed within the internal part of the lesion. Additionally, pseudocoated membrane was observed around the lesion (Figures 3D-F).
case_images: 18F-FDG PET/CT images of Xp11.2 RCC. (A) The anteroposterior 3-dimensional maximum intensity projection image (MIP) demonstrated increased metabolic activity in the right kidney (long arrows) and retroperitoneal lymph nodes (dashed arrows). (B,C) Transverse images and coronal images showed multiple irregular occupancies in the right kidney with unclear borders, showing a heterogeneous increase in FDG uptake, with SUVmax values ranging from 2.3 to 5.2. Multiple enlarged and fused lymph nodes were observed in the medial part of the right kidney and the retroperitoneum, exhibiting a heterogeneous increase in FDG uptake, with SUVmax values ranging from 4.1 to 8.7. (D) Transverse images showed a soft tissue density nodule of the right adrenal gland measuring approximately 1.2 cm x 2.0 cm (arrowheads), with increased FDG uptake (SUVmax = 4.4).
case_images: fmed-10-1266630-g004.jpg
case_images: PMC10546202_01_fmed-10-1266630-g004.jpg
case_images: fig4
case_images: Furthermore, the lesion exhibited poor demarcation from the right kidney, right renal artery, right ureter, inferior vena cava, abdominal aorta, and the head of the pancreas, with the right kidney being displaced laterally due to compression, resulting in dilated hydronephrosis of the right renal pelvis (Figures 4A-C). In the right adrenal gland, a soft tissue density nodule measuring approximately 1.2 cm x 2.0 cm was visible, showing increased 18F-FDG uptake with an SUVmax of 4.4 (Figure 4D), compared to SUVmax of 4.9 measured during delayed imaging.
case_images: Histopathological and immunohistochemical images of Xp11.2 RCC. (A,B) Hematoxylin-eosin (HE) staining (magnification x100 and 200) showed papillary structures composed of epithelioid clear cells, eosinophils, and gravel bodies. (C) Immunohistochemistry showed that the tumor cells were positive for TFE-3 (magnification x100).
case_images: fmed-10-1266630-g005.jpg
case_images: PMC10546202_01_fmed-10-1266630-g005.jpg
case_images: fig5
case_images: Postoperative pathologic microscopy revealed papillary structures composed of epithelioid clear cells, eosinophils, and gravel bodies (Figures 5A,B). TFE-3 (Figure 5C), HMB45, P504S, CD10, Vimentin, GATA-3, and AE1/AE3.