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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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Abstract

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.

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Abbreviations

WHO:

World Health Organization

RCC:

Renal cell carcinoma

Xp11.2/TFE RCC:

Xp11.2 Translocation/TFE3 gene fusion renal cell carcinoma

CT:

Computed tomography

PET-CT:

Positron emission tomography-computed tomography

DWI:

Diffusion-weighted imaging

ADC:

Apparent diffusion coefficient

IHC:

Immunohistochemistry

FISH:

Fluorescence in situ hybridization

ROI:

Region of interest

References:

  1. Lopez-Beltran A, Scarpelli M, Montironi R, Kirkali Z (2006) 2004 WHO classification of the renal tumors of the adults. Eur Urol 49:798–805

    Article  Google 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 16:66–72

    Article  Google 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 200:75–78

    Article  CAS  Google 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 33:217–220

    Article  Google 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 52:1492–1495

    Article  Google 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 36:663–670

    PubMed  Google 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 54:355–362

    Article  Google 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 69:45–51

    Article  CAS  Google 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 39:730–736

    Article  Google 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 204:542–549

    Article  Google 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 27:543–552

    Article  Google 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 36:669–674

    Article  Google 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 40:440–447

    Article  Google 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 27:750–761

    Article  Google 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 459:299–306

    Article  CAS  Google 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 39:1181–1196

    Article  Google 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 255:501–507

    Article  Google Scholar 

  18. Gurel S, Narra V, Elsayes KM, et al. (2013) Subtypes of renal cell carcinoma: MRI and pathological features. Diagn Interv Radiol 19:304–311

    PubMed  Google 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 42:2108–2118

    Article  Google 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 35:332–336

    Article  Google 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 24:241–249

    Article  CAS  Google Scholar 

  22. He J, Zhou K, Zhu B, et al. (2015) Dynamic contrast-enhanced CT characterization of Xp11.2 translocation/TFE3 gene fusions versus papillary renal cell carcinomas. Biomed Res . https://doi.org/10.1155/2015/298679

    Article  Google 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 201:1268–1276

    Article  Google 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 26:592–600

    Article  Google Scholar 

  25. Wang W, Ding J, Li Y, et al. (2014) Magnetic resonance imaging and computed tomography characteristics of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion. Plos ONE 9:e99990. https://doi.org/10.1371/journal.pone.0099990

    Article  CAS  PubMed  PubMed Central  Google 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 208:812–819

    Article  Google Scholar 

  27. Liu N, Wang Z, Gan W, et al. (2016) Renal cell carcinoma associated with xp11.2 Translocation/TFE3 gene fusions: clinical features, treatments and prognosis. PLoS ONE 11:e166897. https://doi.org/10.1371/journal.pone.0166897

    Article  CAS  Google 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 201:347–355

    Article  Google 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 262:884–893

    Article  Google 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 77:787–791

    Article  Google Scholar 

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Acknowledgments

The authors state that this work has not received any funding.

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Authors and Affiliations

  1. Department of Radiology, Zhongshan Hospital, Fudan University, No 180, Fenglin Road, Xuhui District, Shanghai, 200032, China

    Chenchen Dai, Ruofan Sheng, Yuqin Ding & Jianjun Zhou

  2. Shanghai Institute of Medical Imaging, No 180, Fenglin Road, Xuhui District, Shanghai, 200032, China

    Chenchen Dai, Ruofan Sheng, Yuqin Ding & Jianjun Zhou

  3. Department of Medical Imaging, Shanghai Medical College, Fudan University, No 220, Handan Road, Yangpu District, Shanghai, 200032, China

    Chenchen Dai, Ruofan Sheng, Yuqin Ding & Jianjun Zhou

  4. Siemems Healthineers, No 278 Zhouzhu Road, Pudong New District, Shanghai, 200032, China

    Minglei Yang

  5. Department of Pathology, Zhongshan Hospital, Fudan University, No 180, Fenglin Road, Xuhui District, Shanghai, 200032, China

    Jun Hou

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  1. Chenchen Dai
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Correspondence to Jianjun Zhou.

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Dai, C., Sheng, R., Ding, Y. et al. Magnetic resonance imaging findings of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion in adults: a pilot study. Abdom Radiol 44, 209–217 (2019). https://doi.org/10.1007/s00261-018-1703-0

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  • DOI: https://doi.org/10.1007/s00261-018-1703-0

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