case_images: PMC7479808_01
case_images: Computed tomography at the first visit. A moderately enhanced mass occupies the left renal pelvis, accompanying hydronephrosis and multiple para-aortic lymphadenopathy (arrows).
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case_images: F1
case_images: Computed tomography (CT) scans identified a moderately enhanced mass occupying the left renal pelvis, in addition to hydronephrosis, multiple para-aortic lymphadenopathy, and left adrenal swelling (Figure 1).
case_images: Pathological findings of nephrectomy specimen. Macroscopic findings (A), microscopic findings (B), hematoxylin and eosin stain, x200), and immunohistochemistry of fumarate hydratase (C, x200).
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case_images: F2
case_images: Grossly, the tumor comprised multiple nodules spreading over the renal parenchyma and a solid pelvic mass (Figure 2A). Microscopically, the tumor consisted of carcinoma cells with abundant eosinophilic cytoplasm and large nuclei arranged in a papillary architecture, which was consistent with type 2 papillary RCC (Figure 2B). (Figure 2C).
case_images: Family pedigree. Ages shown are those at which subjects took genetic testing. An arrow indicates the present case. AMI, acute myocardial infarction; mut, germline mutation of the fumarate hydratase gene; WT, wild type.
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case_images: F3
case_images: The same FH mutation was also found in his daughter with a previous history of kidney cancer and his brother among five relatives examined (Figure 3).
case_images: FDG-PET before axitinib (A) and 8 months after nivolumab following 7-months of axitinib (B). Metabolic tumor volume (MTV) was defined as the tumor volume greater than 40% of standardized uptake value (SUV) max. Total lesion glycolysis (TLG) was calculated as MTVxSUVmean. MTV and TLG were calculated by using LIFEx package (www.lifexsoft.org). MTV/TLG are 215.3 cm3/1042.5 g (A) and 15.8 cm3/112.5 g (B). CT before axitinib (C), 6 months after axitinib (D), and 7 months after nivolumab (E).
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case_images: PMC7479808_01_JKCVHL-7-006-g004.jpg
case_images: F4
case_images: Metabolic tumor volume (MTV) and total lesion glycolysis (TLG) were 215.3 cm3 and 1042.5 g, respectively (Figure 4A). Axitinib was initiated following radiotherapy at 30 Gy in 10 fractions in combination with zoledronic acid to bone metastases, which achieved a partial response (Figure 4C, 4D). The patient had been in sustained partial response on nivolumab, with significant reductions in MTV and TLG of 15.8 cm3 and 112.5 g, respectively, at 8 months after the start of nivolumab (Figure 4B, 4E).