Pediatric Radiology

, Volume 39, Issue 8, pp 817–822 | Cite as

Extrarenal rhabdoid tumours outside the central nervous system in infancy

  • Enrique F. Garcés-IñigoEmail author
  • Rebecca Leung
  • Neil J. Sebire
  • Kieran McHugh
Original Article



Malignant rhabdoid tumours (RT) are increasingly recognized in young children, probably as a consequence of advances in accurate histological diagnosis rather than a true increase in frequency. Although typically presenting as renal tumours in infancy, extrarenal tumours outside the central nervous system (CNS) in children less than 12 months of age are now well recognized, but previous literature on their imaging features is very limited.


To demonstrate the imaging features of extrarenal RTs outside the CNS.

Materials and methods

A retrospective database review was made from 1989 to 2007 of patients diagnosed with extrarenal RT in infancy, i.e. below 12 months of age.


There were nine patients (six boys and three girls). The age at presentation varied from 1 to 11 months (average 6 months). Tumours were located in the thorax/mediastinum (n=3), liver (n=3), neck (n=1), shoulder (n=1) and axilla (n=1). The imaging modalities used included US (n=8), CT (n=7) and MRI (n=6). Bone scan was positive in one patient, while metastases at the time of diagnosis occurred in four patients. On MRI the tumours tended to show nonspecific hypointensity on T1-W images and heterogeneous hyperintensity on T2-W images, with heterogeneous enhancement.


This is the largest radiological series of extrarenal RTs outside the CNS in infancy. In our series no imaging features were found specific to the diagnosis. A tendency towards large size and mediastinal/paravertebral location were noted. A hypodense solid component on CT and a heterogeneous hyperintensity on T2-W MR images suggest that this tumour should be considered in the routine differential diagnosis of soft-tissue tumours in infancy, in addition to rhabdomyosarcoma.


Tumour Soft tissue Rhabdoid Ultrasonography CT MRI Children 


  1. 1.
    Beckwith JB, Palmer NF (1978) Histopathology and prognosis of Wilms’ tumor. Results from the First National Wilms’ Tumor Study. Cancer 41:1937–1948PubMedCrossRefGoogle Scholar
  2. 2.
    Perlman EJ, Ali SZ, Robinson R et al (1998) Infantile extrarenal rhabdoid tumor. Pediatr Dev Pathol 1:149–152PubMedCrossRefGoogle Scholar
  3. 3.
    Winger DI, Buyuk A, Bohrer S et al (2006) Radiology-Pathology Conference: rhabdoid tumor of the kidney. Clin Imaging 30:132–136PubMedCrossRefGoogle Scholar
  4. 4.
    Gonzalez-Crussi F, Goldschmidt RA, Hsueh W et al (1982) Infantile sarcoma with intracytoplasmic filamentous inclusion: distinctive tumour of possible histiocytic origin. Cancer 49:2365–2375PubMedCrossRefGoogle Scholar
  5. 5.
    Jakate SM, Marsden HB, Ingram L (1988) Primary rhabdoid tumour of the brain. Virchows Arch A Pathol Anat Histopathol 412:393–397PubMedCrossRefGoogle Scholar
  6. 6.
    Oka H, Scheithauer BW (1999) Clinicopathological characteristics of atypical teratoid/rhabdoid tumor. Neurol Med Chir (Tokyo) 39:510–518CrossRefGoogle Scholar
  7. 7.
    Parwani AV, Stelow EB, Pambuccian SE et al (2005) Atypical teratoid/rhabdoid tumor of the brain. Cytopathologic characteristics and differential diagnosis. Cancer Cytopathol 105:65–70Google Scholar
  8. 8.
    Dang T, Vassilyadi M, Michaud J et al (2003) Atypical teratoid/rhabdoid tumors. Childs Nerv Syst 19:244–248PubMedGoogle Scholar
  9. 9.
    Parmar H, Hawkins C, Bouffet E et al (2006) Imaging findings in primary intracranial atypical teratoid/rhabdoid tumour. Pediatr Radiol 36:126–132PubMedCrossRefGoogle Scholar
  10. 10.
    Orbach D, Rey A, Oberlin O et al (2005) Soft tissue sarcoma or malignant mesenchymal tumors in the first year of life: experience of the International Society of Pediatric Oncology (SIOP) Malignant Mesenchymal Tumor Committee. J Clin Oncol 23:4363–4371PubMedCrossRefGoogle Scholar
  11. 11.
    Oda Y, Tsuneyoshi M (2006) Extrarenal rhabdoid tumors of soft tissue: clinicopathological and molecular genetic review and distinction from other soft-tissue sarcomas with rhabdoid features. Pathol Int 56:287–295PubMedCrossRefGoogle Scholar
  12. 12.
    Sigauke E, Rakheja D, Maddox DL et al (2006) 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 19:717–725PubMedCrossRefGoogle Scholar
  13. 13.
    Fanburg-Smith JC, Hengge M, Hengge UR et al (1998) Extrarenal rhabdoid tumors of soft tissue: a clinicopathologic and immunohistochemical study of 18 cases. Ann Diagn Pathol 6:351–362CrossRefGoogle Scholar
  14. 14.
    Hoot AC, Russo P, Judkins AR et al (2004) Immunohistochemical analysis of hsNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other paediatric soft tissue tumors. Am J Surg Pathol 28:1485–1491PubMedCrossRefGoogle Scholar
  15. 15.
    Modena P, Lualdi E, Facchinetti F et al (2005) SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Cancer Res 65:4012–4019PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Enrique F. Garcés-Iñigo
    • 1
    • 3
    Email author
  • Rebecca Leung
    • 1
  • Neil J. Sebire
    • 2
  • Kieran McHugh
    • 1
  1. 1.Department of RadiologyGreat Ormond Street Hospital for ChildrenLondonUK
  2. 2.Department of HistopathologyGreat Ormond Street Hospital for ChildrenLondonUK
  3. 3.Radiology DepartmentComplejo Hospitalario Universitario de AlbaceteHermanos FalcoSpain

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