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PRCC-TFE3 Renal cell carcinoma in a boy with a history of contralateral mesoblastic nephroma

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Abstract

The genetics of renal tumors in children is widely recognized. However, most of the studies published to date emphasize the association between Wilms tumor and the WT-1 gene. Recently, a unique translocation between the X chromosome and chromosome 1 or t(X;1) has been described in several reports of renal cell carcinomas (RCCs) diagnosed in children and adolescents that results in PRCC-TFE3 gene fusion. We report here a 9-year old African-American boy with a history of a right congenital mesoblastic nephroma treated with nephrectomy and followed by annual checkups. After 9 years, he was diagnosed with a mass at the hilum of the left kidney during the work-up of new-onset hypertension. A limited biopsy revealed densely hyalinized connective tissue that was initially interpreted to be a hyalinized contralateral mesoblastic nephroma. The child received chemotherapy, but the mass continued to grow. He underwent a left nephrectomy, and the pathology was diagnostic for a clear cell RCC. Chromosomal analysis disclosed a t(X;1)(p11.2;q21) translocation, which is known to result in a PRCC-TFE3 gene fusion. The tumor showed nuclear labeling for TFE3 protein by immunohistochemistry, supporting the above diagnosis. He has been on hemodialysis, is tumor free, and has not been receiving chemotherapy for 24 months. This is the first report of a RCC as a second malignant neoplasm in a child treated for a congenital mesoblastic nephroma.

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References

  1. Renshaw AA, Granter SR, Fletcher JA, Kozakewich HP, Corless CL, Perez-Atayde AR (1999) Renal cell carcinomas in children and young adults: increased incidence of papillary architecture and unique subtypes. Am J Surg Pathol 23:795–802

    Article  CAS  Google Scholar 

  2. Meloni AM, Dobbs RM, Pontes JE, Sandberg AA (1993) Translocation (X:1) in papillary renal cell carcinoma: a new cytogenetic subtype. Cancer Genet Cytogenet 65:1–6

    Article  CAS  Google Scholar 

  3. Tonk V, Wilson KS, Timmons CF, Schneider NR, Tomlinson GE (1995) Renal cell carcinoma with translocation (X;1): further evidence for a cytogenetically defined subtype. Cancer Genet Cytogenet 81:72–75

    Article  CAS  Google Scholar 

  4. Argani P, Antonescu CR, Couturier J, Fournet JC, Sciot R, Debiec-Rychter M, Hutchinson B, Reuter VE, Boccon-Gibod L, Timmons C, Hafez N, Ladanyi M (2002) PRCC-TFE3 Renal Carcinomas. Morphologic, immunohistochemical, ultrstructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21). Am J Surg Pathol 26:1553–1566

    Article  Google Scholar 

  5. Perot C, Boccon-Gibod L, Bouvier R, Doz F, Fournet JC, Freneaux P, Vieillefond A, Couturier J (2003) Five new cases of juvenile renal cell carcinoma with translocations involving Xp11.2: a cytogenetic and morphologic study. Cancer Genet Cytogenet 143:93–99

    Article  CAS  Google Scholar 

  6. Marsden HB, Lawler W (1983) Primary renal tumors in the first year of life. A population-based review. Virchows Arch A Pathol Anat Histopathol 399:1–9

    Article  CAS  Google Scholar 

  7. Knezevich SR, Garnett MJ, Psycher TJ, Beckwith JB, Grundy PE, Soren PH (1998) ETV6-NTKR3 gene fusion and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma. Cancer Res 58:5046–5048

    CAS  PubMed  Google Scholar 

  8. Bruder E, Passera O, Harms D, Leuschner I, Ladanyi M, Afgani P, Eble JN, Struckman K, Schraml P, Moch H (2004) Morphologic and molecular characterization of renal cell carcinoma in children and young adults. Am J Surg Pathol 28:1117–1132

    Article  Google Scholar 

  9. Indolfi P, Terenziani M, Casale F, Carli M, Bisogno G, Schiavetti A, Mancini A, Rondelli R, Pession A, Jenker A, Pierani P, Tamaro P, Bernardi B, Ferrari A, Santora N, Giuliano M, Cecchetto G, Piva L, Surico G, Di Tullio T (2003) Renal cell carcinoma in children: A clinicopathologic study. J Clin Oncol 21:530–535

    Article  Google Scholar 

  10. Aronson DC, Medary I, Finlay JL, Herr HW, Exelby PR, La Quaglia MP (1996) Renal cell carcinoma in childhood and adolescence: a retrospective survey for prognostic factors in 22 cases. J Pediatr Surg 31:183–188

    Article  CAS  Google Scholar 

  11. Geller JI, Dome JS (2004) Local lymph node involvement does not predict poor outcome in pediatric renal cell carcinoma. Cancer 101:1575–1583

    Article  Google Scholar 

  12. Nelson JB, Oyasu R, Dalton DP (1994) The clinical and pathological manifestations of renal tumors in von Hippel-Lindau disease. J Urol 152:2221–2226

    Article  CAS  Google Scholar 

  13. Al Saleem T, Wessner LL, Scheithauer BW, Patterson K, Roach ES, Dreyer SJ, Fujikawa K, Bjornsson J, Bernstein J, Henske EP (1998) Malignant tumors of the kidney, brain, and soft tissue in children and young adults with the tuberous sclerosis complex. Cancer 83:2208–2216

    Article  Google Scholar 

  14. Gnarra JR, Tory K, Weng Y, Schmidt L, Wei MH, Li H, Latif F, Liu S, Chen F, Duh FM, Lubensky I, Duan DR, Florence C, Pozzatti R, Walther MM, Bander NH, Grossman HB, Brauch H, Pomer S, Brooks JD, Isaacs WB, Lerman MI, Zbar B, Linehan WM (1994) Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat Genet 7:85–90

    Article  CAS  Google Scholar 

  15. Bisceglia M, Carosi I, Vairo M, Zaffarano L, Bisceglia M, Creti G (2000) Congenital mesoblastic nephroma: Report of a case with review of the most significant literature. Pathol Res Pract 196:199–204

    Article  CAS  Google Scholar 

  16. Glick RD, Hicks MJ, Nuchtern JG, Wesson DE, Olutoye OO, Cass DL (2004) Renal tumors in infants less than 6 months of age. J Pediatr Surg 39:522–525

    Article  Google Scholar 

  17. Argani P, Lae M, Ballard ET, Rodriguez M, Hutchinson B, Reuter VE, Ladanyi M (2005) Xp11-translocation carcinomas of the kidney as chemotherapy-induced secondary malignancies. Mod Pathol 18[S1]:303A

    Article  Google Scholar 

  18. Argani P, Ladanyi M (2003) Recent advances in pediatric renal neoplasia. Adv Anat Pathol 10:243–260

    Article  Google Scholar 

  19. Altinock G, Kattar MM, Mohamed A, Poulik J, Grignon D, Rabah R (2005) Pediatric renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene gusions and clinicopathologic associations. Pediatr Dev Pathol 8:168–180

    Article  Google Scholar 

  20. Wigfall DR, Ware RE, Burchinal MR, Kinney TR, Foreman JW (2000) Prevalence and clinical correlates of glomerulopathy in children with sickle cell disease. J Pediatr 136:749–753

    CAS  PubMed  Google Scholar 

  21. Yang XJ, Sugimura J, Tretiakova MS, Furge K, Zagaja G, Sokoloff M, Pins M, Bergan R, Grignon DJ, Stadler WM, Vogelzang NJ, Teh BT (2004) Gene expression profiling of renal medullary carcinoma: potential clinical relevance. Cancer 100:976–985

    Article  Google Scholar 

  22. Medeiros LJ, Palmedo G, Krigman HR, Kovacs G, Beckwith JB (1999) Oncocytoid renal cell carcinoma after neuroblastoma: a report of four cases of a distinct clinicopathologic entity. Am J Surg Pathol 23:772–780

    Article  CAS  Google Scholar 

  23. Koyle MA, Hatch DA, Furness PD 3rd, Lovell MA, Odom LF, Kurzrock EA (2001) Long-term urological complications in survivors younger than 15 months of advanced stage abdominal neuroblastoma. J Urol 166:1455–1458

    Article  CAS  Google Scholar 

  24. Fleitz JM, Wootton-Gorges SL, Wyatt-Ashmead J, McGavran L, Koyle M, West DC, Kurzrock EA, Martin KW, Odom LF (2003) Renal cell carcinoma in long-term survivors of advanced stage neuroblastoma in early childhood. Pediatr Radiol 33:540–545

    Article  Google Scholar 

  25. Cherullo EE, Ross JH, Kay R, Novick AC (2001) Renal neoplasms in adult survivors of childhood Wilms tumor. J Urol 165:2013–2016

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, Division of Pediatric Nephrology, Miller School of Medicine, University of Miami, Miami, FL, USA

    Ali Mirza Onder & Gaston Zilleruelo

  2. Department of Radiology, Miller School of Medicine, University of Miami, Miami, FL, USA

    Uygar Teomete

  3. Departments of Pathology and Oncology, Johns Hopkins Hospital, Baltimore, MD, USA

    Pedram Argani

  4. Department of Pediatrics, Division of Pediatric Hematology and Oncology, Miller School of Medicine, University of Miami, Miami, FL, USA

    Stuart Toledano

  5. Department of Pathology, Miller School of Medicine, University of Miami, Miami, FL, USA

    Maria M. Rodriguez

  6. Department of Pathology, Holtz Children’s Hospital, 1611 NW 12 Avenue, Miami, FL, 33136, USA

    Maria M. Rodriguez

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  1. Ali Mirza Onder
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  2. Uygar Teomete
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  3. Pedram Argani
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  4. Stuart Toledano
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  5. Gaston Zilleruelo
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  6. Maria M. Rodriguez
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Correspondence to Maria M. Rodriguez.

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Onder, A.M., Teomete, U., Argani, P. et al. PRCC-TFE3 Renal cell carcinoma in a boy with a history of contralateral mesoblastic nephroma. Pediatr Nephrol 21, 1471–1475 (2006). https://doi.org/10.1007/s00467-006-0141-3

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  • DOI: https://doi.org/10.1007/s00467-006-0141-3

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