Investigative Magnetic Resonance Imaging

Korean Society of Magnetic Resonance in Medicine (대한자기공명의과학회)
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Imaging Findings of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion in a 4-Year-Old Male: Case Report and Review of Literature

4세 남아에서 발견된 Xp11.2 염색체 재배열/TFE3 유전자 융합 연관 신세포 암의 영상 소견: 증례보고 및 문헌고찰

  • Kim, Hyun Gi (Department of Radiology and Research Institute of Radiological Science, Severance Children's Hospital, Yonsei University, College of Medicine) ;
  • Lee, Mi-Jung (Department of Radiology and Research Institute of Radiological Science, Severance Children's Hospital, Yonsei University, College of Medicine) ;
  • Lee, Sarah (Department of Pathology, Severance Hospital, Yonsei University, College of Medicine) ;
  • Kim, Myung-Joon (Department of Radiology and Research Institute of Radiological Science, Severance Children's Hospital, Yonsei University, College of Medicine) ;
  • Hong, Chang Hee (Department of Pediatric Urology, Severance Children's Hospital, Yonsei University, College of Medicine)
  • 김현지 (연세대학교 의과대학 세브란스병원 영상의학과) ;
  • 이미정 (연세대학교 의과대학 세브란스병원 영상의학과) ;
  • 이사라 (연세대학교 의과대학 세브란스병원 병리학과) ;
  • 김명준 (연세대학교 의과대학 세브란스병원 영상의학과) ;
  • 홍창희 (연세대학교 의과대학 세브란스병원 소아비뇨기과)
  • Received : 2012.02.14
  • Accepted : 2012.07.05
  • Published : 2013.04.30
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Abstract

We represent a pathologically proven case of a four-year-old male patient with renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion, which is rare but more frequent in children or young adults. Computed tomography showed about 2.5 cm size ill-defined mass in the right kidney. The mass was hyperechoic on ultrasound. Magnetic resonance imaging demonstrated a mass with capsular enhancement and diffusion restriction. We present a case of Xp11.2 renal cell carcinoma and provide review of the literature.

신세포암의 여러 종류 중 Xp11.2 염색체 재배열/TFE3 유전자 융합 연관 신세포암은 드물며 소아나 젊은 성인에서 더 흔한 것으로 알려져 있다. 이 증례보고는 병리학적으로 확인된 4세 남자 환자의 Xp11.2 염색체 재배열/TFE3 유전자 융합 연관 신세포암에 대한 것이다. 본 증례에서 종양은 컴퓨터 단층 촬영에서 우측 신장에 2.5 cm 크기의 경계가 불명확한 종괴로 보였으며, 초음파상 고에코 병변으로 보였다. 자기공명영상에서는 종괴 캡슐의 조영증강과 함께 종괴의 확산 제한이 보였다. 저자들은 이 드문 신세포암의 영상 소견에 대해 증례를 보고하고 문헌을 고찰하는 바이다.

Keywords

References

  1. Ross H, Argani P. Xp11 translocation renal cell carcinoma. Pathology 2010;42:369-373 https://doi.org/10.3109/00313021003767348
  2. Geller E, Smergel EM, Lowry PA. Renal neoplasms of childhood. Radiol Clin North Am 1997;35:1391-1413
  3. Dehner LP, Leestma JE, Price EB, Jr. Renal cell carcinoma in children: a clinicopathologic study of 15 cases and review of the literature. J Pediatr 1970;76:358-368 https://doi.org/10.1016/S0022-3476(70)80474-7
  4. Hartman DS, Davis CJ, Jr., Madewell JE, Friedman AC. Primary malignant renal tumors in the second decade of life: wilms tumor versus renal cell carcinoma. J Urol 1982;127:888- 891 https://doi.org/10.1016/S0022-5347(17)54116-6
  5. Bruder E, Passera O, Harms D, et al. Morphologic and molecular characterization of renal cell carcinoma in children and young adults. Am J Surg Pathol 2004;28:1117-1132 https://doi.org/10.1097/01.pas.0000131558.32412.40
  6. Argani P, Olgac S, Tickoo SK, et al. Xp11 translocation renal cell carcinoma in adults: expanded clinical, pathologic, and genetic spectrum. Am J Surg Pathol 2007;31:1149-1160 https://doi.org/10.1097/PAS.0b013e318031ffff
  7. Dal Cin P, Stas M, Sciot R, De Wever I, Van Damme B, Van den Berghe H. Translocation (X; 1) reveals metastasis 31 years after renal cell carcinoma. Cancer Genet Cytogenet 1998;101: 58-61 https://doi.org/10.1016/S0165-4608(97)00063-0
  8. Yamaguchi T, Kuroda N, Imamura Y, Hes O, Kawada T, Nakayama K. Imprint cytologic features in renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion in an adult: a case report. Acta Cytol 2009;53:693-697 https://doi.org/10.1159/000325412
  9. Kato H, Kanematsu M, Yokoi S, et al. Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: radiological findings mimicking papillary subtype. J Magn Reson Imaging 2011;33:217-220 https://doi.org/10.1002/jmri.22392
  10. Jayasinghe C, Siegler N, Leuschner I, Fleischhack G, Born M, Muller AM. Renal cell carcinoma with Xp11.2 translocation in a 7-year-old boy. Klin Padiatr 2010;222:187-189 https://doi.org/10.1055/s-0030-1252011
  11. Winarti NW, Argani P, De Marzo AM, Hicks J, Mulyadi K. Pediatric renal cell carcinoma associated with Xp11.2 translocation/ TFE3 gene fusion. Int J Surg Pathol 2008;16:66-72 https://doi.org/10.1177/1066896907304994
  12. Argani P, Lae M, Ballard ET, et al. Translocation carcinomas of the kidney after chemotherapy in childhood. J Clin Oncol 2006;24:1529-1534 https://doi.org/10.1200/JCO.2005.04.4693
  13. Wu A, Kunju LP, Cheng L, Shah RB. Renal cell carcinoma in children and young adults: analysis of clinicopathological, immunohistochemical and molecular characteristics with an emphasis on the spectrum of Xp11.2 translocation-associated and unusual clear cell subtypes. Histopathology 2008;53:533-544 https://doi.org/10.1111/j.1365-2559.2008.03151.x
  14. Qiu R, Bing G, Zhou XJ. Xp11.2 Translocation renal cell carcinomas have a poorer prognosis than non-Xp11.2 translocation carcinomas in children and young adults: a meta-analysis. Int J Surg Pathol 2010;18:458-464 https://doi.org/10.1177/1066896910375565