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• Clinical Article •
Imaging features of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion in adults
ZHANG Jing-gang  WANG Peng  XING Wei  CHEN Jie  WU Jun-hong  LI Dong  WU An-min  ZHANG Da-chuan  YU Sheng-nan 

DOI:10.12015/issn.1674-8034.2018.12.007.


[Abstract] Objective: To summarize CT, MRI and PET-CT imaging features of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2/TFE3 RCC).Materials and Methods: The imaging features of 19 patients of Xp11.2/TFE3 RCC confirmed by pathology were analyzed retrospectively. CT scan was performed in 15 patients, MR scan in 4 cases and PET-CT scan in 2 cases. 12 cases were found occasionally during physical examination, 4 cases were found by hematuria and 3 cases by backache. 8 cases were men and 11 cases were female, aged 20—75 years. To analyze the location, size, shape, edge, density or signal, internal characteristics, enhancement or ingestion of the tumors, invasion or metastasis, TNM staging.Results: All cases were solitary tumors, 13 tumors located in the left kidney and 6 located in the right kidney. The maximum diameter of the lesions ranged from 1.7 cm to 11.7 cm. 15 cases were oval while the other 4 cases were irregularly. 68% of the cases had the pseudocapsule around the tumors. Most of the tumors showed heterogeneous density or signal, including hemorrhage (52.6%), cystic degeneration (31.6%), calcification (15.8%). After injection of contrast medium, 6 cases (35%) showed moderate to wild enhancement while 9 cases (65%) showed mild enhancement, 13 cases showed characteristic papillary enhancement pattern (76%). 2 cases showed low uptake in the PET-CT images. Perirenal lymph node metastasis appeared in 3 cases, renal vein thrombosis in 2 cases and distant metastases in 2 cases.Conclusions: Adult Xp11.2/TFE3 RCCs were more common in women. It was usually a heterogeneous mass with a pseudocapsule. Hypo-enhancement or low-uptake and papillary enhancement pattern were mostly found. Preoperative imaging provides some help for the diagnosis of Xp11.2 renal cell carcinoma.
[Keywords] Kidney neoplasms；Xp11.2 translocation；TFE3 gene fusion；X-ray, computed tomography；Magnetic resonance imaging

ZHANG Jing-gang Department of Radiology, the Third Affiliated Hospital of Soochow University, Changzhou 213003, China

WANG Peng Department of Radiology, Shanghai Changzheng Hospital, Shanghai 200003, China

XING Wei Department of Radiology, the Third Affiliated Hospital of Soochow University, Changzhou 213003, China

CHEN Jie Department of Radiology, the Third Affiliated Hospital of Soochow University, Changzhou 213003, China

WU Jun-hong Department of Radiology, Guigang People's Hospital, Guigang 537100, China

LI Dong Department of Radiology, Shanghai Changzheng Hospital, Shanghai 200003, China

WU An-min Department of Radiology, Shanghai Changzheng Hospital, Shanghai 200003, China

ZHANG Da-chuan Department of Pathology, the Third Affiliated Hospital of Soochow University, Changzhou 213003, China

YU Sheng-nan* Department of Radiology, the Third Affiliated Hospital of Soochow University, Changzhou 213003, China

*Correspondence to: Yu SN, E-mail: xzyysn8@126.com

Conflicts of interest   None.

ACKNOWLEDGMENTS  This work was part of National Natural Science Foundation of China No. 81771798
Received  2018-08-09
DOI: 10.12015/issn.1674-8034.2018.12.007
DOI:10.12015/issn.1674-8034.2018.12.007.

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