PMC9403306_01
Conventional CT and 3D reconstruction demonstrated a tumor and enlarged lymph nodes. (A) Abdominal CT scan detected a solid mass (6 cm in diameter) at the right kidney (red circle) and multiple enlarged lymph nodes (yellow circle). (B) 3D reconstruction of the urinary system which includes lesions (tumor: yellow; enlarged lymph nodes: orange), kidneys, collective system, and blood vessels. (C) A well-circumscribed solid mass on the right and multiple enlarged hilar lymph nodes scavenged on the left. (D) Cut surface of a well-encapsulated tumor lesion showing gray-white or gray-yellow and a large area of necrosis, and the tumor was 6 x 5.5 x 5 cm3 in size.
fphar-13-927299-g001.jpg
PMC9403306_01_fphar-13-927299-g001.jpg
F1
Computed tomography (CT) showed an inhomogeneous mass, 6 cm in diameter, in the right kidney, and multiple lymph nodes enlargements were found adjacent to inferior vena cava and abdominal aorta (Figures 1A,B) and no evidence of distant organ metastasis. Intraoperatively, a well-circumscribed solid mass, 6 cm in diameter, was identified in the upper part of the right kidney and multiple hilar and inferior vena cava lymph nodes were scavenged (Figure 1C). The cut surface of the tumor was gray-white or gray-yellow with a large area of necrosis (Figure 1D).
Representative images of the postoperative pathological features of the analyzed tumors. (A) HE (hematoxylin and eosin) staining of tumor sample, 200x. (B) HE staining of metastatic hilar lymph nodes sample, 200x. (C) Tumor cells display TFE3 nuclear positive. (D) TFE3 break-apart probe assay identified split signals, 1,000x. (E) Ki67 expression. (F) PAX-8 expression. (G) CD10 expression. (H) CD117 expression. (I) CA9 expression; (J) HMB45 expression (Images E-J have a magnification at 200x).
fphar-13-927299-g002.jpg
PMC9403306_01_fphar-13-927299-g002.jpg
F2
Postoperative pathological examination revealed that the case was considered to be Xp11.2 translocation/TFE3 gene fusions associated with RCC, with a size of 6 x 5.5 x 5 cm3, and the right renal hilar lymph node was confirmed with metastases (Figures 2A,B). III according to AJCC Cancer Staging Manual, presenting WHO/ISUP Grade 3 of nuclear grade. Immunohistochemistry (IHC) results revealed positive for TFE3, almost the entire neoplastic cell nuclei stained positive for TFE3, with moderate (2+) to strong (3+) staining intensity (Figure 2C). FISH results showed a separated red and green signal in most nuclei of the tumor cells, which indicated the rearrangement of the TFE3 gene (Figure 2D). Immunohistochemical staining showed positive for Ki67 (15%), PAX-8, and CD10 (Figures 2E-G), and negative for CD117, CA9, and HMB45 (Figures 2H-J).
NGS-based identification of PTPRD mutation and PTPRD expression of the analyzed tumors. (A) NGS-based identification of the c.1544-1G>T mutation. (B) PTPRD expression in tumor sample (upper part) and tumor periphery (lower part), 200x.
fphar-13-927299-g003.jpg
PMC9403306_01_fphar-13-927299-g003.jpg
F3
Sequencing results are presented in Figure 3A. PTPRD expression was confirmed in the tumor sample (Figure 3B, upper part) compared to the tumor periphery (Figure 3B, lower part). Previous studies have reported that the inactivation of PTPRD can promote angiogenesis and metastasis and is associated with a high malignant phenotype.
A positron emission tomography-computed tomography (PET/CT) scan. (A) No suspicious primary lesion recurrence in the right kidney after surgery. (B) Neither lymph nodes enlargement adjacent to the aorta nor remote organ metastases.
fphar-13-927299-g004.jpg
PMC9403306_01_fphar-13-927299-g004.jpg
F4
PET-CT was performed on the 12th month postoperatively, which indicated neither lymph node enlargement adjacent to the aorta nor remote organ metastases (Figures 4A,B), indicating a clinical complete response.