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Pediatric Nephrology

, Volume 21, Issue 10, pp 1471–1475 | Cite as

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

  • Ali Mirza Onder
  • Uygar Teomete
  • Pedram Argani
  • Stuart Toledano
  • Gaston Zilleruelo
  • Maria M. RodriguezEmail author
Brief Report

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.

Keywords

Carcinoma Chromosome translocation Kidney Mesoblastic nephroma Pediatric PRCC-TFE3 gene fusion 

References

  1. 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 23:795–802CrossRefGoogle Scholar
  2. 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 65:1–6CrossRefGoogle Scholar
  3. 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 81:72–75CrossRefGoogle Scholar
  4. 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 26:1553–1566CrossRefGoogle Scholar
  5. 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 143:93–99CrossRefGoogle Scholar
  6. 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 399:1–9CrossRefGoogle Scholar
  7. 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 58:5046–5048PubMedGoogle Scholar
  8. 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 28:1117–1132CrossRefGoogle Scholar
  9. 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 21:530–535CrossRefGoogle Scholar
  10. 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 31:183–188CrossRefGoogle Scholar
  11. 11.
    Geller JI, Dome JS (2004) Local lymph node involvement does not predict poor outcome in pediatric renal cell carcinoma. Cancer 101:1575–1583CrossRefGoogle Scholar
  12. 12.
    Nelson JB, Oyasu R, Dalton DP (1994) The clinical and pathological manifestations of renal tumors in von Hippel-Lindau disease. J Urol 152:2221–2226CrossRefGoogle Scholar
  13. 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 83:2208–2216CrossRefGoogle Scholar
  14. 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 7:85–90CrossRefGoogle Scholar
  15. 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 196:199–204CrossRefGoogle Scholar
  16. 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 39:522–525CrossRefGoogle Scholar
  17. 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]:303ACrossRefGoogle Scholar
  18. 18.
    Argani P, Ladanyi M (2003) Recent advances in pediatric renal neoplasia. Adv Anat Pathol 10:243–260CrossRefGoogle Scholar
  19. 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 8:168–180CrossRefGoogle Scholar
  20. 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 136:749–753PubMedGoogle Scholar
  21. 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 100:976–985CrossRefGoogle Scholar
  22. 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 23:772–780CrossRefGoogle Scholar
  23. 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 166:1455–1458CrossRefGoogle Scholar
  24. 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 33:540–545CrossRefGoogle Scholar
  25. 25.
    Cherullo EE, Ross JH, Kay R, Novick AC (2001) Renal neoplasms in adult survivors of childhood Wilms tumor. J Urol 165:2013–2016CrossRefGoogle Scholar

Copyright information

© IPNA 2006

Authors and Affiliations

  • Ali Mirza Onder
    • 1
  • Uygar Teomete
    • 2
  • Pedram Argani
    • 3
  • Stuart Toledano
    • 4
  • Gaston Zilleruelo
    • 1
  • Maria M. Rodriguez
    • 5
    • 6
    Email author
  1. 1.Department of Pediatrics, Division of Pediatric Nephrology, Miller School of MedicineUniversity of MiamiMiamiUSA
  2. 2.Department of Radiology, Miller School of MedicineUniversity of MiamiMiamiUSA
  3. 3.Departments of Pathology and OncologyJohns Hopkins HospitalBaltimoreUSA
  4. 4.Department of Pediatrics, Division of Pediatric Hematology and Oncology, Miller School of MedicineUniversity of MiamiMiamiUSA
  5. 5.Department of Pathology, Miller School of MedicineUniversity of MiamiMiamiUSA
  6. 6.Department of PathologyHoltz Children’s HospitalMiamiUSA

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