Magnetic resonance imaging findings of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion in adults: a pilot study
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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.
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.
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.
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.
KeywordsRenal cell carcinoma Adult Magnetic resonance imaging Diagnosis Prognosis
World Health Organization
Renal cell carcinoma
- Xp11.2/TFE RCC
Xp11.2 Translocation/TFE3 gene fusion renal cell carcinoma
Positron emission tomography-computed tomography
Apparent diffusion coefficient
Fluorescence in situ hybridization
Region of interest
The authors state that this work has not received any funding.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
- 1.Lopez-Beltran A, Scarpelli M, Montironi R, Kirkali Z (2006) 2004 WHO classification of the renal tumors of the adults. Eur Urol 49:798–805Google Scholar
- 2.Winarti NW, Argani P, De Marzo AM, Hicks J, Mulyadi K (2008) Pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion. Int J Surg Pathol 16:66–72Google Scholar
- 3.Haudebourg J, Hoch B, Fabas T, et al. (2010) A novel case of t(X;1)(p11.2;p34) in a renal cell carcinoma with TFE3 rearrangement and favorable outcome in a 57-year-old patient. Cancer Genet Cytogenet 200:75–78Google Scholar
- 4.Kato H, Kanematsu M, Yokoi S, et al. (2011) Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: radiological findings mimicking papillary subtype. J Magn Reson Imaging 33:217–220Google Scholar
- 5.Liu C, Zhang W, Song H (2017) Nephron-sparing surgery in the treatment of pediatric renal cell carcinoma associated with Xp11.2 translocation/ TFE3 gene fusions. J Pediatr Surg 52:1492–1495Google Scholar
- 6.Sukov WR, Hodge JC, Lohse CM, et al. (2012) TFE3 rearrangements in adult renal cell carcinoma: clinical and pathologic features with outcome in a large series of consecutively treated patients. Am J Surg Pathol 36:663–670Google Scholar
- 7.Zhu QQ, Wang ZQ, Zhu WR, Chen WX, Wu JT (2013) The multislice CT findings of renal carcinoma associated with XP11.2 translocation/TFE gene fusion and collecting duct carcinoma. Acta Radiol 54:355–362Google Scholar
- 8.He J, Huan Y, Qiao Q, Zhang J, Zhang JS (2014) Renal carcinomas associated with Xp11.2 translocations: are CT findings suggestive of the diagnosis? Clin Radiol 69:45–51Google Scholar
- 9.He J, Gan W, Liu S, et al. (2015) Dynamic computed tomographic features of adult renal cell carcinoma associated with xp11.2 translocation/TFE3 gene fusions. J Comput Assist Tomogr 39:730–736Google Scholar
- 10.Woo S, Kim SY, Lee MS, et al. (2015) MDCT findings of renal cell carcinoma associated with Xp11.2 translocation and TFE3 gene fusion and papillary renal cell carcinoma. AJR Am J Roentgenol 204:542–549Google Scholar
- 11.Chen X, Zhu Q, Li B, et al. (2017) Renal cell carcinoma associated with Xp11.2 translocation/TFE gene fusion: imaging findings in 21 patients. Eur Radiol 27:543–552Google Scholar
- 12.Dang TT, Ziv E, Weinstein S, et al. (2012) Computed tomography and magnetic resonance imaging of adult renal cell carcinoma associated with Xp11.2 translocation. J Comput Assist Tomogr 36:669–674Google Scholar
- 13.Liu K, Xie P, Peng W, Zhou Z (2014) Renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions: Findings on MRI and computed tomography imaging. J Magn Reson Imaging 40:440–447Google Scholar
- 14.Argani P, Lal P, Hutchinson B, et al. (2003) Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. Am J Surg Pathol 27:750–761Google Scholar
- 15.Kim SH, Choi Y, Jeong HY, et al. (2011) Usefulness of a break-apart FISH assay in the diagnosis of Xp11.2 translocation renal cell carcinoma. Virchows Arch 459:299–306Google Scholar
- 16.Rao Q, Shen Q, Xia Q, et al. (2015) PSF/SFPQ Is a very common gene fusion partner in TFE3 rearrangement–associated perivascular epithelioid cell tumors (PEComas) and melanotic Xp11 translocation renal cancers. Am J Surg Pathol 39:1181–1196Google Scholar
- 17.Verma SK, Mitchell DG, Yang R, et al. (2010) Exophytic renal masses: angular interface with renal parenchyma for distinguishing benign from malignant lesions at MR imaging. Radiology 255:501–507Google Scholar
- 18.Gurel S, Narra V, Elsayes KM, et al. (2013) Subtypes of renal cell carcinoma: MRI and pathological features. Diagn Interv Radiol 19:304–311Google Scholar
- 19.Kim Y, Sung DJ, Sim KC, et al. (2017) Renal tumors with low signal intensities on T2-weighted MR image: radiologic-pathologic correlation. Abdom Radiol 42:2108–2118Google Scholar
- 20.Razek AA, Farouk A, Mousa A, Nabil N (2011) Role of diffusion-weighted magnetic resonance imaging in characterization of renal tumors. J Comput Assist Tomogr 35:332–336Google Scholar
- 21.Lassel EA, Rao R, Schwenke C, Schoenberg SO, Michaely HJ (2014) Diffusion-weighted imaging of focal renal lesions: a meta-analysis. Eur Radiol 24:241–249Google Scholar
- 23.Raman SP, Johnson PT, Allaf ME, Netto G, Fishman EK (2013) Chromophobe renal cell carcinoma: multiphase MDCT enhancement patterns and morphologic features. AJR Am J Roentgenol 201:1268–1276Google Scholar
- 24.Hakim SW, Schieda N, Hodgdon T, et al. (2016) Angiomyolipoma (AML) without visible fat: Ultrasound, CT and MR imaging features with pathological correlation. Eur Radiol 26:592–600Google Scholar
- 26.Young JR, Coy H, Kim HJ, et al. (2017) Performance of relative enhancement on multiphasic MRI for the differentiation of clear cell renal cell carcinoma (RCC) from papillary and chromophobe RCC subtypes and oncocytoma. AJR Am J Roentgenol 208:812–819Google Scholar
- 28.Egbert ND, Caoili EM, Cohan RH, et al. (2013) Differentiation of papillary renal cell carcinoma subtypes on CT and MRI. AJR Am J Roentgenol 201:347–355Google Scholar
- 29.Dodelzon K, Mussi TC, Babb JS, Taneja SS, Rosenkrantz AB (2012) Prediction of growth rate of solid renal masses: utility of MR imaging features–preliminary experience. Radiology 262:884–893Google Scholar
- 30.Haramis G, Mues AC, Rosales JC, et al. (2011) Natural history of renal cortical neoplasms during active surveillance with follow-up longer than 5 years. Urology 77:787–791Google Scholar