Magnetic resonance imaging findings of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion in adults: a pilot study

• Published in: Abdominal imaging Vol. 44; no. 1; pp. 209 - 217
• Main Authors: Dai, Chenchen, Sheng, Ruofan, Ding, Yuqin, Yang, Minglei, Hou, Jun, Zhou, Jianjun
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.01.2019; Springer Nature B.V
• Subjects: Adult; ADULTS; Aged; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics; CAPSULES; Carcinoma, Renal Cell - diagnostic imaging; Carcinoma, Renal Cell - genetics; CARCINOMAS; DIAGNOSIS; Endophytes; Female; Gastroenterology; Gene fusion; Gene Fusion - genetics; Health risk assessment; HEMORRHAGE; Hepatology; Humans; Imaging; Kidney - diagnostic imaging; Kidney cancer; Kidney Neoplasms - diagnostic imaging; Kidney Neoplasms - genetics; KIDNEYS; Lesions; MAGNETIC RESONANCE; Magnetic resonance imaging; Magnetic Resonance Imaging - methods; Male; Medical diagnosis; Medical imaging; Medical prognosis; Medicine; Medicine & Public Health; METASTASES; Metastasis; Middle Aged; Neuroimaging; NMR; NMR IMAGING; Nuclear magnetic resonance; PATIENTS; Pilot Projects; Radiology; RADIOLOGY AND NUCLEAR MEDICINE; Renal cell carcinoma; Renal cortex; Retrospective Studies; Subgroups; Translocation; Translocation, Genetic - genetics; Tumors; Young Adult; Adult; Prognosis; Diagnosis; Magnetic resonance imaging; Renal cell carcinoma
• ISSN: 2366-004X; 2366-0058; 2366-0058
• DOI: 10.1007/s00261-018-1703-0

Purpose The purpose of the study was to retrospectively analyze MRI findings of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2/TFE RCC) in adults. Methods Sixteen patients with Xp11.2/TFE RCC were reviewed retrospectively. The clinical characteristics and imaging features were assessed and then compared between metastatic and non-metastatic subgroups. Results The mean age at diagnosis was 47.4 (20–76) years. Seven (44 %) patients were men, and nine (56 %) patients were women. The lesions predominantly exhibited an endophytic distribution ( n  = 14, 88 %) with a capsule ( n  = 16, 100 %), accompanied by solid and cystic patterns ( n  = 12, 75%) and hemorrhage ( n  = 11, 69 %). The tumors prevalently appeared hyper- to isointense on T1WI ( n  = 14, 88 %), hypointense on T2WI ( n  = 13, 81 %), and hyperintense on DWI ( n  = 16, 100 %) with a lower ADC ( P  < 0.001) than that of the surrounding tissue. The tumors were less enhanced than the normal renal cortex in all phases with a prolonged enhancement pattern ( P  ≤ 0.001). In addition, six patients (38 %) developed recurrence or metastases. The RCCs with metastases showed an irregular shape ( P  = 0.013), an incomplete capsule ( P  = 0.018), heterogeneous solid-cystic patterns ( P  = 0.034), and hemorrhage ( P  = 0.037) than non-metastatic subgroups. Conclusions MRI provides valuable information for the diagnosis of adult Xp11.2/TFE RCCs. Features including irregular shape, incomplete capsule, mixed solid-cystic pattern, and hemorrhage may indicate the occurrence of recurrence or metastases.