Korean Journal of Radiology

The Korean Society of Radiology (대한영상의학회)
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Multidetector CT Characteristics of Fumarate Hydratase-Deficient Renal Cell Carcinoma and Papillary Type II Renal Cell Carcinoma

  • Ling Yang (Department of Radiology, West China Hospital, Sichuan University) ;
  • Xue-Ming Li (Department of Radiology, West China Hospital, Sichuan University) ;
  • Ya-Jun Hu (Department of Radiology, West China Hospital, Sichuan University) ;
  • Meng-Ni Zhang (Department of Pathology, West China Hospital, Sichuan University) ;
  • Jin Yao (Department of Radiology, West China Hospital, Sichuan University) ;
  • Bin Song (Department of Radiology, West China Hospital, Sichuan University)
  • Received : 2021.01.02
  • Accepted : 2021.07.20
  • Published : 2021.12.01
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Abstract

Objective: To investigate the multidetector computed tomography (MDCT) features of fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) with germline or somatic mutations, and compare them with those of papillary type II RCC (pRCC type II). Materials and Methods: A total of 24 patients (mean ± standard deviation, 40.4 ± 14.7 years) with pathologically confirmed FH-deficient RCC (15 with germline and 9 with somatic mutations) and 54 patients (58.6 ± 12.6 years) with pRCC type II were enrolled. The MDCT features were retrospectively reviewed and compared between the two entities and mutation subgroups, and were correlated with the clinicopathological findings. Results: All the lesions were unilateral and single. Compared with pRCC type II, FH-deficient RCC was more prevalent among younger patients (40.4 ± 14.7 vs. 58.6 ± 12.6, p < 0.001) and tended to be larger (8.1 ± 4.1 vs. 5.4 ± 3.2, p = 0.002). Cystic solid patterns were more common in FH-deficient RCC (20/24 vs. 16/54, p < 0.001), with 16 of the 20 (80.0%) cystic solid tumors having showed typical polycystic and thin smooth walls and/or septa, with an eccentric solid component. Lymph node (16/24 vs. 16/54, p = 0.003) and distant (11/24 vs. 3/54, p < 0.001) metastases were more frequent in FH-deficient RCC. FH-deficient RCC and pRCC type II showed similar attenuation in the unenhanced phase. The attenuation in the corticomedullary phase (CMP) (76.3% ± 25.0% vs. 60.2 ± 23.6, p = 0.008) and nephrographic phase (NP) (87.7 ± 20.5, vs. 71.2 ± 23.9, p = 0.004), absolute enhancement in CMP (39.0 ± 24.8 vs. 27.1 ± 22.7, p = 0.001) and NP (50.5 ± 20.5 vs. 38.2 ± 21.9, p = 0.001), and relative enhancement ratio to the renal cortex in CMP (0.35 ± 0.26 vs. 0.24 ± 0.19, p = 0.001) and NP (0.43 ± 0.24 vs. 0.29 ± 0.19, p < 0.001) were significantly higher in FH-deficient RCC. No significant difference was found between the FH germline and somatic mutation subgroups in any of the parameters. Conclusion: The MDCT features of FH-deficient RCC were different from those of pRCC type II, whereas there was no statistical difference between the germline and somatic mutation subgroups. A kidney mass with a cystic solid pattern and metastatic tendency, especially in young patients, should be considered for FH-deficient RCC.

Keywords

Acknowledgement

The authors are grateful for the support of the tissue specimens and the image data from the cooperative units (Sichuan Provincial people's Hospital, China, Zigong fourth people's Hospital, Sichuan, China and Chinese PLA General Hospital [301 Hospital]).

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