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Kidney Cancer pp 179–192Cite as

Pediatric Renal Tumors: Diagnostic Updates

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Abstract

Pediatric renal tumors are rare, and share very little overlap with adult renal tumors. By far, the most common is Wilms tumor, a triphasic tumor with an average presentation of 2–5 years of age and a very good prognosis. Unfavorable histology in Wilms tumor is a marker of adverse prognosis, and is defined by diffuse anaplasia. Congenital mesoblastic nephroma is a spindle cell tumor found almost exclusively in infants. The cellular variant has a characteristic t(12;15) ETV6–NTRK3 rearrangement. Clear cell sarcoma of the kidney has variable histology, and has been recently described to often have BCL6 corepressor (BCOR) internal tandem duplication repeats. Rhabdoid tumor has characteristic rhabdoid morphology and loss of INI1 staining by immunohistochemistry, a surrogate marker for SMARCB1 inactivation. Renal carcinomas are very rare in the pediatric population, but may be seen. These include MiT-translocation associated renal cell carcinomas; positive immunohistochemistry for TFE3 is a surrogate for the characteristic translocations. Renal medullary carcinomas are very aggressive tumors found almost exclusively in patients with sickle cell trait; INI1 loss by immunohistochemistry is characteristic. Two pediatric renal tumors are related to alterations in DICER1: cystic nephroma and anaplastic sarcoma of kidney. Ossifying renal tumor of infancy is a very rare, benign kidney tumor seen almost exclusively in infants.

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References

  1. Malkan AD, Loh A, Bahrami A, Navid F, Coleman J, Green DM, et al. An approach to renal masses in pediatrics. Pediatrics. 2015;135(1):142–58.

    Article  PubMed  Google Scholar 

  2. Irtan S, Ehrlich PF, Pritchard-Jones K. Wilms tumor: “State-of-the-art” update, 2016. Semin Pediatr Surg. 2016;25(5):250–6.

    Article  PubMed  Google Scholar 

  3. Dome JS, Graf N, Geller JI, Fernandez CV, Mullen EA, Spreafico F, et al. Advances in wilms tumor treatment and biology: progress through international collaboration. J Clin Oncol. 2015;33(27):2999–3007.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Dome JS, Fernandez CV, Mullen EA, Kalapurakal JA, Geller JI, Huff V, et al. Children’s Oncology Group’s 2013 blueprint for research: renal tumors. Pediatr Blood Cancer. 2013;60(6):994–1000.

    Article  PubMed  Google Scholar 

  5. Faria P, Beckwith JB, Mishra K, Zuppan C, Weeks D, Breslow N, et al. Focal versus diffuse anaplasia in Wilms tumor – new definitions with prognostic significance: a report from the National Wilms Tumor Study Group. Am J Surg Pathol. 1996;20(8):909–20.

    Article  CAS  PubMed  Google Scholar 

  6. Picarsic J, Reyes-Múgica M. Phenotype and immunophenotype of the most common pediatric tumors. Appl Immunohistochem Mol Morphol. 2015;23(5):313–26.

    Article  CAS  PubMed  Google Scholar 

  7. Gadd S, Huff V, Walz AL, Ooms AHAG, Armstrong AE, Gerhard DS, et al. A Children’s Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. Nat Genet. 2017;49(10):1487–94.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Treger TD, Chowdhury T, Pritchard-Jones K, Behjati S. The genetic changes of Wilms tumour. Nat Rev Nephrol. 2019;15(4):240–51.

    Article  PubMed  Google Scholar 

  9. Knezevich SR, Garnett MJ, Pysher TJ, Beckwith JB, Grundy PE, Sorensen PHB. ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma. Cancer Res. 1998;58(22):5046–8.

    CAS  PubMed  Google Scholar 

  10. Rubin BP, Chen CJ, Morgan TW, Xiao S, Grier HE, Kozakewich HP, et al. Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma. Am J Pathol. 1998;153(5):1451–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Rudzinski ER, Lockwood CM, Stohr BA, Vargas SO, Sheridan R, Black JO, et al. Pan-Trk immunohistochemistry identifies NTRK rearrangements in pediatric mesenchymal tumors. Am J Surg Pathol. 2018;42(7):927–35.

    Article  PubMed  Google Scholar 

  12. Gooskens SLM, Furtwängler R, Vujanic GM, Dome JS, Graf N, van den Heuvel-Eibrink MM. Clear cell sarcoma of the kidney: a review. Eur J Cancer. 2012;48(14):2219–26.

    Article  CAS  PubMed  Google Scholar 

  13. Mirkovic J, Calicchio M, Fletcher CD, Perez-Atayde AR. Diffuse and strong cyclin D1 immunoreactivity in clear cell sarcoma of the kidney. Histopathology. 2015;67(3):306–12.

    Article  PubMed  Google Scholar 

  14. Ueno-Yokohata H, Okita H, Nakasato K, Akimoto S, Hata JI, Koshinaga T, et al. Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney. Nat Genet. 2015;47(8):861–3.

    Article  CAS  PubMed  Google Scholar 

  15. Kenny C, Bausenwein S, Lazaro A, Furtwängler R, Gooskens SLM, Van Den Heuvel Eibrink M, et al. Mutually exclusive BCOR internal tandem duplications and YWHAE-NUTM2 fusions in clear cell sarcoma of kidney: not the full story. J Pathol. 2016;238(5):617–20.

    Article  CAS  PubMed  Google Scholar 

  16. Kao Y-C, Sung Y-S, Zhang L, Huang S-C, Argani P, Chung CT, et al. Recurrent BCOR internatl tandem duplication and YWHAE-NUTM2B fusions in soft tissue undifferentiated round cell sarcoma of infancy – overlapping genetic features with clear cell sarcoma of kidney. Am J Surg Pathol. 2016;40(8):1009–20.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Roy A, Kumar V, Zorman B, Fang E, Haines K, Doddapaneni H, et al. Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun. 2015;6:8891.

    Article  CAS  PubMed  Google Scholar 

  18. O’Meara E, Stack D, Lee CH, Garvin AJ, Morris T, Argani P, et al. Characterization of the chromosomal translocation t(10;17)(q22;p13) in clear cell sarcoma of kidney. J Pathol. 2012;227(1):72–80.

    Article  PubMed  CAS  Google Scholar 

  19. Karlsson J, Valid A, Gisselsson D. BCOR internal tandem duplication and YWHAE-NUTM2B/E fusion are mutually exclusive events in clear cell sarcoma of the kidney. Genes Chromosomes Cancer. 2016;55:120–3.

    Article  CAS  PubMed  Google Scholar 

  20. Wong MK, Ng CCY, Kuick CH, Aw SJ, Rajasegaran V, Lim JQ, et al. Clear cell sarcomas of the kidney are characterised by BCOR gene abnormalities, including exon 15 internal tandem duplications and BCOR-CCNB3 gene fusion. Histopathology. 2018;72(2):320–9.

    Article  PubMed  Google Scholar 

  21. Argani P, Kao Y-C, Zhang L, Bacchi C, Matoso A, Alaggio R, et al. Primary renal sarcomas with BCOR-CCNB3 gene fusion. Am J Surg Pathol. 2017;41(12):1702–12.

    Article  PubMed  PubMed Central  Google Scholar 

  22. Beckwith JB, Palmer NF. Histopathology and prognosis of Wilms tumors: results from the First National Wilms’ Tumor Study. Cancer. 1978;41(5):1937–48.

    Article  CAS  PubMed  Google Scholar 

  23. Bourdeaut F, Lequin D, Brugières L, Reynaud S, Dufour C, Doz F, et al. Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res. 2011;17(1):31–8.

    Article  CAS  PubMed  Google Scholar 

  24. Sigauke E, Rakheja D, Maddox DL, Hladik CL, White CL, Timmons CF, et al. Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. Mod Pathol. 2006;19(5):717–25.

    Article  CAS  PubMed  Google Scholar 

  25. Sredni ST, Tomita T. Rhabdoid tumor predisposition syndrome. Pediatr Dev Pathol. 2015;18(1):49–58.

    Article  PubMed  Google Scholar 

  26. Geller JI, Ehrlich PF, Cost NG, Khanna G, Mullen EA, Gratias EJ, et al. Characterization of adolescent and pediatric renal cell carcinoma: a report from the Children’s Oncology Group study AREN03B2. Cancer. 2015;121(14):2457–64.

    Article  PubMed  Google Scholar 

  27. Cajaiba MM, Dyer LM, Geller JI, Jennings LJ, George D, Kirschmann D, et al. The classification of pediatric and young adult renal cell carcinomas registered on the children’s oncology group (COG) protocol AREN03B2 after focused genetic testing. Cancer. 2018;124(16):3381–9.

    Article  CAS  PubMed  Google Scholar 

  28. Perlman EJ. Pediatric renal cell carcinoma. Surg Pathol Clin. 2010;3(3):641–51.

    Article  PubMed  PubMed Central  Google Scholar 

  29. Davis CJ, Mostofi FK, Sesterhenn IA. Renal medullary carcinoma. The seventh sickle cell nephropathy. Am J Surg Pathol. 1995;19(1):1–11.

    Article  PubMed  Google Scholar 

  30. Cheng JX, Tretiakova M, Gong C, Mandal S, Krausz T, Taxy JB. Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior. Mod Pathol. 2008;21(6):647–52.

    Article  CAS  PubMed  Google Scholar 

  31. Liu Q, Galli S, Srinivasan R, Linehan WM, Tsokos M, Merino MJ. Renal medullary carcinoma: molecular, immunohistochemistry, and morphologic correlation. Am J Surg Pathol. 2013;37(3):368–74.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Carlo MI, Chaim J, Patil S, Kemel Y, Schram AM, Woo K, et al. Genomic characterization of renal medullary carcinoma and treatment outcomes. Clin Genitourin Cancer. 2017;15(6):e987–94.

    Article  PubMed  PubMed Central  Google Scholar 

  33. Debelenko LV, Raimondi SC, Daw N, Shivakumar BR, Huang D, Nelson M, et al. Renal cell carcinoma with novel VCL-ALK fusion: new representative of ALK-associated tumor spectrum. Mod Pathol. 2011;24(3):430–42.

    Article  CAS  PubMed  Google Scholar 

  34. Smith N, Deyrup AT, Fletcher JA, Bridge JA, Illei PB, Netto GJ, et al. VCL-ALK renal cell carcinoma in children with sickle-cell trait: the eighth sickle-cell nephropathy? Am J Surg Pathol. 2014;38(6):858–63.

    Article  PubMed  PubMed Central  Google Scholar 

  35. Mariño-Enríquez A, Ou W-B, Weldon CB, Fletcher JA, Pérez-Atayde AR. ALK rearrangement in sickle cell trait-associated renal medullary carcinoma. Genes Chromosom Cancer. 2011;50(3):146–53.

    Article  PubMed  CAS  Google Scholar 

  36. Cajaiba MM, Jennings LJ, Rohan SM, Perez-Atayde AR, Marino-Enriquez A, Fletcher JA, et al. ALK rearranged renal cell carcinomas in children. Genes Chromosom Cancer. 2016;55(5):442–51.

    Article  CAS  PubMed  Google Scholar 

  37. Doros LA, Rossi CT, Yang J, Field A, Williams GM, Messinger Y, et al. DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma. Mod Pathol. 2014;27(9):1267–80.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Cajaiba MM, Khanna G, Smith EA, Gellert L, Chi YY, Mullen EA, et al. Pediatric cystic nephromas: distinctive features and frequent DICER1 mutations. Hum Pathol. 2016;48:81–7.

    Article  CAS  PubMed  Google Scholar 

  39. Li Y, Pawel BR, Hill DA, Epstein JI, Argani P. Pediatric cystic nephroma is morphologically, immunohistochemically, and genetically distinct from adult cystic nephroma. Am J Surg Pathol. 2017;41(4):472–81.

    Article  PubMed  PubMed Central  Google Scholar 

  40. Wu MK, Cotter MB, Pears J, McDermott MB, Fabian MR, Foulkes WD, et al. Tumor progression in DICER1-mutated cystic nephroma – witnessing the genesis of anaplastic sarcoma of the kidney. Hum Pathol. 2016;53:114–20.

    Article  CAS  PubMed  Google Scholar 

  41. Vujanić GM, Kelsey A, Perlman EJ, Sandstedt B, Beckwith JB. Anaplastic sarcoma of the kidney: a clinicopathologic study of 20 cases of a new entity with polyphenotypic features. Am J Surg Pathol. 2007;31(10):1459–68.

    Article  PubMed  Google Scholar 

  42. Sebire NJ, Vujanic GM. Paediatric renal tumours: recent developments, new entities and pathological features. Histopathology. 2009;54(5):516–28.

    Article  PubMed  Google Scholar 

  43. Wu MK, Vujanic GM, Fahiminiya S, Watanabe N, Thorner PS, O’Sullivan MJ, et al. Anaplastic sarcomas of the kidney are characterized by DICER1 mutations. Mod Pathol. 2018;31(1):169–78.

    Article  CAS  PubMed  Google Scholar 

  44. Chatten J, Cromie WJ, Duckett JW. Ossifying tumor of infantile kidney: report of two cases. Cancer. 1980;45(3):609–12.

    Article  CAS  PubMed  Google Scholar 

  45. Hu J, Wu Y, Qi J, Zhang C, Lv F. Ossifying renal tumor of infancy (ORTI): a case report and review of the literature. J Pediatr Surg. 2013;48(2):e37–40.

    Article  PubMed  Google Scholar 

  46. Guan W, Yan Y, He W, Qiao M, Liu Y, Wang Y, et al. Ossifying renal tumor of infancy (ORIT): the clinicopathological and cytogenetic feature of two cases and literature review. Pathol Res Pract. 2016;212(11):1004–9.

    Article  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Texas Children’s Hospital/Baylor College of Medicine, Houston, TX, USA

    Maren Y. Fuller

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  1. Maren Y. Fuller
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Editors and Affiliations

  1. Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Weill Medical College of Cornell University, Houston, TX, USA

    Mukul K. Divatia

  2. Gulhane Military Medical Academy, School of Medicine, Department of Pathology, Ankara, Turkey

    Ayhan Ozcan

  3. Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

    Charles C. Guo

  4. Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Weill Medical College of Cornell University, Houston, TX, USA

    Jae Y. Ro

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Fuller, M.Y. (2020). Pediatric Renal Tumors: Diagnostic Updates. In: Divatia, M., Ozcan, A., Guo, C., Ro, J. (eds) Kidney Cancer. Springer, Cham. https://doi.org/10.1007/978-3-030-28333-9_9

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  • DOI: https://doi.org/10.1007/978-3-030-28333-9_9

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