Malignant Rhabdoid Tumor Clinical Presentation

Updated: Oct 09, 2018
  • Author: James I Geller, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Presentation

History

Children with malignant rhabdoid tumor (MRT) of the kidney present with signs and symptoms related to an intrarenal mass.

  • Pain is difficult to assess because the median age at presentation is about 11 months. However, fussiness is reported in most patients.
  • Gross hematuria is a presenting feature in approximately 60% of patients. By contrast, only 20% of patients with Wilms tumor have gross hematuria.
  • Fever is a presenting symptom in 50% of patients with a MRT of the kidney, compared with 25% of patients with a Wilms tumor.
  • As many as 20% of patients with a MRT of the kidney have synchronous or metachronous CNS lesions, including both metastases and second primary AT/RTs.

A detailed family cancer history should be obtained.

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Physical

The physical findings of patients with MRT depend on the site of origin of the tumor. [26, 27]

  • For MRT of the kidney, the physical examination is most remarkable for a large intra-abdominal mass.
  • Hypertension, defined as blood pressure greater than the 95th percentile, is observed in up to 70% of patients.
  • In contrast to a Wilms tumor, a MRT is not associated with the WAGR syndrome, which consists of a Wilms tumor, aniridia, genitourinary anomalies, and mental retardation, or with Beckwith-Wiedemann syndrome, which consists of organomegaly, large birth weight, macroglossia, and hemihypertrophy.
  • Evidence of focal neurologic signs or increased intracranial pressure should be evaluated in light of the prevalence of synchronous AT/RTs.
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Causes

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  • Although mutations or deletions of the SMARCB1 gene play a role in the development of MRT, the events that incite these genetic alterations are unknown.
  • Several cases of familial MRT are reported.
  • No environmental or infectious associations with MRT have been established.
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