Encyclopedia of Pathology

Living Edition
| Editors: J.H.J.M. van Krieken

Rhabdoid Tumor

  • Anna Caliò
  • Diego Segala
  • Guido MartignoniEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-3-319-28845-1_3482-1


Rhabdoid tumor of the kidney is a highly invasive and highly lethal neoplasm of young children with genetic abnormalities of SMARCB1/INI1 tumor suppressor gene.

Clinical Features

  • Incidence

    It comprises 2% of pediatric renal neoplasms.

  • Age

    Ninety percent of the cases occurs in patients before 3 years of age.

  • Sex

    ts male-to-female ratio is 1.5:1.

  • Site

    There is no site predilection.

  • Treatment

    There is no standard treatment option for rhabdoid tumor of the kidney.

  • Outcome

    The patients frequently die within 1 year of diagnosis. Hematuria and abdominal mass are the most common presentations.


Tumors are typically large, hemorrhagic, and necrotic, with ill-defined borders (Weeks et al. 1989).


It is an infiltrative, necrotic hemorrhagic tumor composed of sheets of large discohesive polygonal cells with large vesicular nuclei showing prominent central nucleoli and hyaline pink cytoplasmic inclusions (Weeks et al. 1989).


Loss of INI1 protein by immunohistochemistry is a sensitive and specific marker of these neoplasms.

Molecular Features

The molecular hallmark is the biallelic inactivation of the SMARCB1 tumor suppressor gene, which resides on the long arm of chromosome 22. Inactivation of this gene is also seen in morphologically similar rhabdoid tumors which occur in the soft tissue and brain (atypical teratoid/rhabdoid tumor) (Eaton et al. 2011).

Differential Diagnosis

The differential diagnosis includes renal medullary carcinoma (sickle cell trait, older age), cellular mesoblastic nephroma (spindle cell), and clear cell sarcoma of the kidney (lack the prominent nucleoli).

References and Further Reading

  1. Eaton, K. W., Tooke, L. S., Wainwright, L. M., et al. (2011). Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatric Blood & Cancer, 56, 7–15.CrossRefGoogle Scholar
  2. Weeks, D. A., Beckwith, J. B., Mierau, G. W., & Luckey, D. W. (1989). Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms’ Tumor Study Pathology Center. The American Journal of Surgical Pathology, 13, 439–458.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Diagnostic and Public Health, Section of PathologyUniversity of VeronaVeronaItaly
  2. 2.Department of PathologyPederzoli HospitalPeschiera del GardaItaly